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
DNAJC11	55735	broad.mit.edu	37	1	6698379	6698379	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:6698379C>T	uc001aof.2	-	12	1405	c.1299G>A	c.(1297-1299)CAG>CAA	p.Q433Q	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.Q381Q|DNAJC11_uc010nzu.1_Silent_p.Q343Q	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	433	Potential.				protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTTCTTCTGCAGCACAT	0.632		NA											23	20					0	0	0	0
PIK3CD	5293	broad.mit.edu	37	1	9777022	9777022	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:9777022C>G	uc001aqb.3	+	7	994	c.786C>G	c.(784-786)ATC>ATG	p.I262M	PIK3CD_uc010oaf.1_Missense_Mutation_p.I262M|PIK3CD_uc001aqe.3_Intron	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	262					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGTACATCTGCAGCTGCC	0.662		NA											25	19					0	0	0	0
CASZ1	54897	broad.mit.edu	37	1	10707968	10707968	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:10707968C>T	uc001aro.2	-	16	3707	c.3387G>A	c.(3385-3387)ATG>ATA	p.M1129I	CASZ1_uc001arp.1_Missense_Mutation_p.M1129I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1129	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGATCTGAGGCATCTGGGGTA	0.667		NA											32	15					0	0	0	0
ALPL	249	broad.mit.edu	37	1	21903031	21903031	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:21903031G>A	uc001bet.2	+	11	1463	c.1206G>A	c.(1204-1206)CTG>CTA	p.L402L	ALPL_uc010odn.1_Silent_p.L350L|ALPL_uc010odo.1_Silent_p.L347L|ALPL_uc010odp.1_Silent_p.L325L|ALPL_uc001beu.3_Silent_p.L402L	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	402					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCCCCATGCTGAGTGACACAG	0.607		NA											49	65					0	0	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22148095	22148095	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:22148095G>C	uc001bfg.1	+	4	983	c.796G>C	c.(796-798)GCT>CCT	p.A266P	LDLRAD2_uc001bfh.1_RNA	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	266	Cytoplasmic (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACAAGACGCAGCTTTGGAAGG	0.602		NA											39	64					0	0	0	0
WASF2	10163	broad.mit.edu	37	1	27755376	27755376	+	Missense_Mutation	SNP	C	C	T	rs151177492		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:27755376C>T	uc001bof.1	-	2	241	c.25G>A	c.(25-27)GAG>AAG	p.E9K	WASF2_uc010ofl.1_Missense_Mutation_p.E9K	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	9					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGCCTTGGCTCGATGTTCCTC	0.488		NA											30	26					0	0	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35921704	35921704	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:35921704G>A	uc001byx.2	-	10	1824	c.1566C>T	c.(1564-1566)CTC>CTT	p.L522L	KIAA0319L_uc001byw.2_5'Flank|KIAA0319L_uc010ohv.1_Silent_p.L164L	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	522	PKD 3.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTCCCAAAGAGGGTGATGG	0.547		NA											116	172					0	0	0	0
EIF2C4	192670	broad.mit.edu	37	1	36298161	36298161	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:36298161G>C	uc001bzj.1	+	11	1559	c.1369G>C	c.(1369-1371)GAT>CAT	p.D457H		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	457					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTAGGGAAGATTTACTAAA	0.393		NA											26	64					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39852945	39852945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39852945G>A	uc010oiu.1	+	22	9882	c.9751G>A	c.(9751-9753)GAT>AAT	p.D3251N	MACF1_uc010ois.1_Missense_Mutation_p.D2749N|MACF1_uc001cda.1_Missense_Mutation_p.D2636N|MACF1_uc001cdc.1_Missense_Mutation_p.D1815N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4816	Spectrin 4.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGTTGGATGATAAACAAAG	0.448		NA											106	161					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39907972	39907972	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39907972G>A	uc010oiu.1	+	41	14388	c.14257G>A	c.(14257-14259)GAG>AAG	p.E4753K	MACF1_uc010ois.1_Missense_Mutation_p.E4251K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACCTGGGTGAGAAAATTGC	0.448		NA											17	36					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43903370	43903370	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:43903370C>T	uc001cjk.1	+	30	4160	c.3698C>T	c.(3697-3699)TCG>TTG	p.S1233L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2132						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGAAGCCTCGGCATGTATC	0.592		NA											21	27					0	0	0	0
KIAA0494	9813	broad.mit.edu	37	1	47182007	47182007	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:47182007G>C	uc001cqk.3	-	2	1271	c.294C>G	c.(292-294)CTC>CTG	p.L98L	KIAA0494_uc010omh.1_Silent_p.L98L|KIAA0494_uc001cql.1_Silent_p.L98L	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	98							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GATCCTCCTTGAGAGCAACCT	0.378		NA											13	31					0	0	0	0
NRD1	4898	broad.mit.edu	37	1	52256649	52256649	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:52256649C>T	uc001ctc.3	-	30	3500	c.3178G>A	c.(3178-3180)GAT>AAT	p.D1060N	NRD1_uc009vzb.2_Missense_Mutation_p.D755N|NRD1_uc001ctd.3_Missense_Mutation_p.D992N|NRD1_uc001cte.2_Missense_Mutation_p.D928N	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	991					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						ATCTTCTTATCAACAACTTCA	0.398		NA											18	23					0	0	0	0
MAGOH	4116	broad.mit.edu	37	1	53692756	53692756	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:53692756G>A	uc001cvf.1	-	5	490	c.402C>T	c.(400-402)TTC>TTT	p.F134F	MAGOH_uc010ont.1_Silent_p.F97F	NM_002370	NP_002361	P61326	MGN_HUMAN	mago-nashi homolog	134				KCLVF->ECLVA: Complete loss of nonsense- mediated decay activity.	mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding				0						CAATAAGACTGAAGACCAAAC	0.373		NA											6	14					0	0	0	0
C1orf87	127795	broad.mit.edu	37	1	60538268	60538268	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:60538268C>G	uc001czs.1	-	2	140	c.48G>C	c.(46-48)GAG>GAC	p.E16D		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	16							calcium ion binding			ovary(1)|breast(1)	2						TCACCATGATCTCAGGCATTG	0.393		NA											31	67					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66058502	66058502	+	Silent	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:66058502A>C	uc001dci.2	+	6	859	c.657A>C	c.(655-657)GGA>GGC	p.G219G	LEPR_uc001dcg.2_Silent_p.G219G|LEPR_uc001dch.2_Silent_p.G219G|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.G219G|LEPR_uc001dck.2_Silent_p.G219G	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	219	Extracellular (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATCTGGTGGAGTAATTTTCC	0.378		NA											13	31					0	0	0	0
USP33	23032	broad.mit.edu	37	1	78204976	78204976	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:78204976G>C	uc001dht.2	-	6	765	c.418C>G	c.(418-420)CAC>GAC	p.H140D	USP33_uc001dhu.2_Missense_Mutation_p.H109D|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.H140D	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	140					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TGTATTTGGTGAGGTTGTCTT	0.373		NA											45	91					0	0	0	0
COL24A1	255631	broad.mit.edu	37	1	86252129	86252129	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:86252129G>T	uc001dlj.2	-	48	4009	c.3967C>A	c.(3967-3969)CCA>ACA	p.P1323T	COL24A1_uc001dli.2_Missense_Mutation_p.P459T|COL24A1_uc010osd.1_Missense_Mutation_p.P623T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1323	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTCTTCCTGGGCCGCCTCTG	0.463		NA											47	67					6.08e-21	6.73e-21	1	0
GBP2	2634	broad.mit.edu	37	1	89579735	89579735	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:89579735G>C	uc001dmz.1	-	7	1384	c.1113C>G	c.(1111-1113)TTC>TTG	p.F371L	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	371					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACATCCTTGAAAGAGTTCT	0.488		NA											54	79					0	0	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179681	90179681	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:90179681G>C	uc001dnl.3	+	3	1794	c.1552G>C	c.(1552-1554)GAG>CAG	p.E518Q		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	518	LRR 6.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATCTGGAAGAGCTGTACCT	0.468		NA											22	37					0	0	0	0
CCDC18	343099	broad.mit.edu	37	1	93649049	93649049	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:93649049C>G	uc001dpq.2	+	2	653	c.485C>G	c.(484-486)TCC>TGC	p.S162C	TMED5_uc001dpn.2_5'Flank|TMED5_uc001dpo.2_5'Flank|TMED5_uc001dpp.2_5'Flank	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	44										ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAAGAGTTATCCAGGTAAGTA	0.343		NA											23	28					0	0	0	0
S1PR1	1901	broad.mit.edu	37	1	101704696	101704696	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:101704696C>T	uc001dud.2	+	2	670	c.156C>T	c.(154-156)TTC>TTT	p.F52F	S1PR1_uc009weg.2_Silent_p.F52F	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52	Helical; Name=1; (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						CGGTGGTGTTCATTCTCATCT	0.438		NA									OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	85					0	0	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294644	110294644	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:110294644C>T	uc001dyr.1	-	15	1552	c.1407G>A	c.(1405-1407)CTG>CTA	p.L469L	EPS8L3_uc001dys.1_Silent_p.L439L|EPS8L3_uc001dyq.1_Silent_p.L470L|EPS8L3_uc009wfm.1_Silent_p.L406L|EPS8L3_uc009wfn.1_Silent_p.L414L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	469	SH3.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGACCACAGTCAGTTCCCGTG	0.592		NA											42	93					0	0	0	0
KCNA2	3737	broad.mit.edu	37	1	111146834	111146834	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:111146834C>T	uc001dzu.2	-	2	1067	c.571G>A	c.(571-573)GAG>AAG	p.E191K	KCNA2_uc009wfv.1_Missense_Mutation_p.E191K|KCNA2_uc009wfw.2_Missense_Mutation_p.E191K	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	191						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TCTTCATTCTCATCCCGGAAG	0.493		NA											31	54					0	0	0	0
DDX20	11218	broad.mit.edu	37	1	112309284	112309284	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:112309284G>A	uc001ebs.2	+	11	2595	c.2238G>A	c.(2236-2238)TTG>TTA	p.L746L	DDX20_uc010owf.1_Silent_p.L508L|DDX20_uc001ebt.2_Silent_p.L354L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	746					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCAGATTGCAGACTGAAG	0.473		NA											21	46					0	0	0	0
MAGI3	260425	broad.mit.edu	37	1	114226508	114226508	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:114226508G>C	uc001edk.2	+	21	4499	c.4318G>C	c.(4318-4320)GAG>CAG	p.E1440Q	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1465					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		CAAAAACAAAGAGACTGGAAG	0.433		NA											4	14					0	0	0	0
PEX11B	8799	broad.mit.edu	37	1	145522727	145522727	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:145522727C>A	uc001eny.1	+	4	606	c.588C>A	c.(586-588)CTC>CTA	p.L196L	NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Silent_p.L182L|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTCCTGCTCCTGGCTCGAG	0.577		NA											34	192					2.27e-22	2.51e-22	1	0
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:147090735A>C	uc001epq.2	+	8	1514	c.774A>C	c.(772-774)CCA>CCC	p.P258P	BCL9_uc010ozr.1_Silent_p.P184P	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592		NA	T	IGH@|IGL@	B-ALL								11	146					0	0	0	0
GJA8	2703	broad.mit.edu	37	1	147381142	147381142	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:147381142G>A	uc001epu.1	+	2	1123	c.1060G>A	c.(1060-1062)GAG>AAG	p.E354K		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	354	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GGAGGAAGCAGAGAGGCTGAC	0.632		NA											5	20					0	0	0	0
FCGR1A	2209	broad.mit.edu	37	1	149762936	149762936	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149762936G>C	uc001esp.3	+	6	1038	c.988G>C	c.(988-990)GAT>CAT	p.D330H	HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor	330	Cytoplasmic (Potential).|Interaction with EPB41L2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATCTCTTTGGATTCTGGTCA	0.383		NA											28	142					0	0	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858839	149858839	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149858839G>T	uc001etd.2	+	1	315	c.315G>T	c.(313-315)CAG>CAT	p.Q105H	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCATCGCCCAGGGCGGCGTTT	0.522		NA											41	163					1.69e-10	1.81e-10	1	0
SV2A	9900	broad.mit.edu	37	1	149878401	149878401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149878401G>C	uc001etg.2	-	11	2177	c.1686C>G	c.(1684-1686)TTC>TTG	p.F562L	SV2A_uc009wlk.2_Missense_Mutation_p.F14L|SV2A_uc001eth.2_Missense_Mutation_p.F562L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	562	Extracellular (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACTTGTACTCGAACAGGTCTG	0.537		NA											16	46					0	0	0	0
SNX27	81609	broad.mit.edu	37	1	151630748	151630748	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:151630748C>G	uc001eyn.1	+	3	597	c.581C>G	c.(580-582)TCT>TGT	p.S194C	SNX27_uc001eyo.2_Missense_Mutation_p.S101C|SNX27_uc001eyp.2_Missense_Mutation_p.S8C	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	194	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCTGTGTTCTAAGCGGTAC	0.408		NA											61	252					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152282183	152282183	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152282183C>T	uc001ezu.1	-	3	5215	c.5179G>A	c.(5179-5181)GAA>AAA	p.E1727K		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1727	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)			TCTGACTCTTCTGAGTGTCCC	0.597		NA							Ichthyosis				151	465					0	0	0	0
LCE2C	353140	broad.mit.edu	37	1	152648745	152648745	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152648745G>T	uc001fah.2	+	2	309	c.254G>T	c.(253-255)CGG>CTG	p.R85L		NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGGCGCCGGCACCAGAGC	0.677		NA											5	112					0.00116845	0.00120075	1	0
CRTC2	200186	broad.mit.edu	37	1	153925047	153925047	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:153925047C>G	uc010ped.1	-	8	772	c.702G>C	c.(700-702)AAG>AAC	p.K234N	CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	234					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCCTCCTACCTTCTTAGCAT	0.522		NA											9	521					0	0	0	0
SSR2	6746	broad.mit.edu	37	1	155984754	155984754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:155984754C>A	uc001fmx.2	-	4	441	c.361G>T	c.(361-363)GTG>TTG	p.V121L	SSR2_uc001fmv.2_5'Flank|SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Intron|SSR2_uc010pgw.1_Missense_Mutation_p.V140L	NM_003145	NP_003136	P43308	SSRB_HUMAN	signal sequence receptor, beta precursor	121	Lumenal (Potential).				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAACTCACCACAACGGGCCCA	0.423		NA											8	39					1.07e-07	1.13e-07	1	0
COPA	1314	broad.mit.edu	37	1	160309718	160309718	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:160309718C>G	uc009wti.2	-	3	603	c.209G>C	c.(208-210)GGA>GCA	p.G70A	COPA_uc001fvv.3_Missense_Mutation_p.G70A|COPA_uc009wtj.1_Intron	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	70	WD 2.				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)			ATAGTCATCTCCTCCAGAGAC	0.458		NA											63	219					0	0	0	0
NDUFS2	4720	broad.mit.edu	37	1	161172237	161172237	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:161172237G>C	uc001fyv.2	+	2	510	c.62G>C	c.(61-63)GGG>GCG	p.G21A	NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.G21A|NDUFS2_uc010pkj.1_5'UTR|NDUFS2_uc001fyx.2_Missense_Mutation_p.G21A|NDUFS2_uc001fyy.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	21					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CTGCGGCCTGGGGCTGGAGTC	0.652		NA											3	31					0	0	0	0
DDR2	4921	broad.mit.edu	37	1	162745470	162745470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:162745470A>G	uc001gcf.2	+	16	2350	c.1885A>G	c.(1885-1887)ATG>GTG	p.M629V	DDR2_uc001gcg.2_Missense_Mutation_p.M629V	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	629	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATAAAGATCATGTCTCGGCT	0.413		NA											12	173					0	0	0	0
DCAF6	55827	broad.mit.edu	37	1	168014240	168014240	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:168014240C>T	uc001gew.2	+	14	2044	c.1802C>T	c.(1801-1803)TCA>TTA	p.S601L	DCAF6_uc001gev.2_Missense_Mutation_p.S621L|DCAF6_uc001gex.2_Missense_Mutation_p.S678L|DCAF6_uc010plk.1_Missense_Mutation_p.S647L|DCAF6_uc001gey.2_Missense_Mutation_p.S474L|DCAF6_uc001gez.2_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	601					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAATCTGCTTCATCTGAAAAA	0.433		NA											43	161					0	0	0	0
BAT2L2	23215	broad.mit.edu	37	1	171530231	171530231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:171530231C>G	uc010pmg.1	+	20	6366	c.6100C>G	c.(6100-6102)CCT>GCT	p.P2034A	BAT2L2_uc010pmh.1_Missense_Mutation_p.P1011A|BAT2L2_uc010pmi.1_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2034							protein C-terminus binding				0						TGGATCAGCTCCTTCATCAGA	0.363		NA											95	269					0	0	0	0
BAT2L2	23215	broad.mit.edu	37	1	171560972	171560972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:171560972G>T	uc010pmg.1	+	34	8706	c.8440G>T	c.(8440-8442)GAA>TAA	p.E2814*	BAT2L2_uc010pmh.1_Nonsense_Mutation_p.E1726*|BAT2L2_uc010pmi.1_Nonsense_Mutation_p.E730*|BAT2L2_uc010pmj.1_Nonsense_Mutation_p.E346*	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							protein C-terminus binding				0						CAAAACCGAAGAAACAAAATC	0.478		NA											38	155					6.53e-18	7.18e-18	1	0
SLC9A11	284525	broad.mit.edu	37	1	173545823	173545823	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:173545823C>T	uc001giz.2	-	8	1302	c.879G>A	c.(877-879)CCG>CCA	p.P293P	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	293					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.P293P(1)		ovary(2)	2						GTTCGATCTTCGGTTTAAAAG	0.403		NA											12	34					0	0	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174363181	174363181	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:174363181G>C	uc001gjx.2	+	13	1803	c.1608G>C	c.(1606-1608)AAG>AAC	p.K536N	RABGAP1L_uc009wwq.1_Missense_Mutation_p.K548N|RABGAP1L_uc001gjw.2_Missense_Mutation_p.K499N|RABGAP1L_uc001gjy.2_Missense_Mutation_p.K204N|RABGAP1L_uc001gjz.2_Missense_Mutation_p.K183N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	536					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						CTCTGGTGAAGAGTGGTGTCC	0.473		NA											45	123					0	0	0	0
TNR	7143	broad.mit.edu	37	1	175360470	175360470	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:175360470C>G	uc001gkp.1	-	5	1542	c.1461G>C	c.(1459-1461)CTG>CTC	p.L487L	TNR_uc009wwu.1_Silent_p.L487L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	487	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CCTGTTCTTTCAGAGCCACCA	0.557		NA											31	67					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176983947	176983947	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:176983947G>A	uc001glc.2	-	8	1715	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	ASTN1_uc001glb.1_Silent_p.N501N|ASTN1_uc001gld.1_Silent_p.N501N|ASTN1_uc009wwx.1_Silent_p.N501N|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	509					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TCCCCCATTCGTTCCGAATGC	0.493		NA											179	419					0	0	0	0
RASAL2	9462	broad.mit.edu	37	1	178389654	178389654	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:178389654C>G	uc001glr.2	+	3	254	c.129C>G	c.(127-129)TTC>TTG	p.F43L	RASAL2_uc009wxb.2_Missense_Mutation_p.F191L|RASAL2_uc001glq.2_Missense_Mutation_p.F191L	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	43	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						AGGGATTCTTCAGCAAGCGCC	0.468		NA											12	51					0	0	0	0
CEP350	9857	broad.mit.edu	37	1	179972362	179972362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:179972362G>C	uc001gnt.2	+	7	1455	c.1072G>C	c.(1072-1074)GAG>CAG	p.E358Q	CEP350_uc009wxl.2_Missense_Mutation_p.E357Q|CEP350_uc001gnu.2_Missense_Mutation_p.E192Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	358						centrosome|nucleus|spindle				ovary(4)	4						AGTGTGGCAGGAGGCTGAGTT	0.378		NA											14	45					0	0	0	0
LHX4	89884	broad.mit.edu	37	1	180199673	180199673	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180199673G>A	uc001goe.1	+	1	232	c.9G>A	c.(7-9)CAG>CAA	p.Q3Q		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGATGATGCAGAGTGCGACTG	0.522		NA											13	46					0	0	0	0
XPR1	9213	broad.mit.edu	37	1	180843068	180843068	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180843068G>C	uc001goi.2	+	13	1990	c.1798G>C	c.(1798-1800)GAG>CAG	p.E600Q	XPR1_uc009wxn.2_Missense_Mutation_p.E535Q	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	600	EXS.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TGCCCCACTTGAGGTTTTCCG	0.363		NA											22	40					0	0	0	0
CACNA1E	777	broad.mit.edu	37	1	181689972	181689972	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:181689972C>G	uc001gow.2	+	15	2102	c.1937C>G	c.(1936-1938)GCC>GGC	p.A646G	CACNA1E_uc009wxs.2_Missense_Mutation_p.A553G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	646	Extracellular (Potential).|II.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTCCCTGCAGCCATCATGACT	0.433		NA											6	32					0	0	0	0
RNASEL	6041	broad.mit.edu	37	1	182555377	182555377	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:182555377C>G	uc001gpj.1	-	1	732	c.565G>C	c.(565-567)GAT>CAT	p.D189H	RNASEL_uc009wxz.1_Missense_Mutation_p.D189H|RNASEL_uc001gpk.2_Missense_Mutation_p.D189H|RNASEL_uc009wya.1_Missense_Mutation_p.D189H	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	189	ANK 5.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						CCCATCTCATCAAGGAGAATC	0.502		NA							Hereditary_Prostate_Cancer				32	93					0	0	0	0
LAMC2	3918	broad.mit.edu	37	1	183196670	183196670	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183196670G>A	uc001gqa.2	+	10	1620	c.1306G>A	c.(1306-1308)GAG>AAG	p.E436K	LAMC2_uc001gpz.3_Missense_Mutation_p.E436K|LAMC2_uc010poa.1_Missense_Mutation_p.E136K	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	436	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TTCAGGGGATGAGAATCCTGA	0.522		NA											55	262					0	0	0	0
GLT25D2	23127	broad.mit.edu	37	1	183938448	183938448	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183938448T>C	uc001gqr.2	-	5	1159	c.787A>G	c.(787-789)ACC>GCC	p.T263A	GLT25D2_uc010poj.1_Missense_Mutation_p.T263A|GLT25D2_uc001gqs.2_Missense_Mutation_p.T143A	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	263					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						TCATCAAAGGTCCAGGTGTAG	0.527		NA											27	94					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197070880	197070880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:197070880G>A	uc001gtu.2	-	18	7758	c.7501C>T	c.(7501-7503)CAG>TAG	p.Q2501*	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Nonsense_Mutation_p.Q349*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2501					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTCCAAGTCTGAAATGTAATA	0.348		NA											44	123					0	0	0	0
NR5A2	2494	broad.mit.edu	37	1	200143123	200143123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:200143123G>C	uc001gvb.2	+	8	1617	c.1411G>C	c.(1411-1413)GAA>CAA	p.E471Q	NR5A2_uc001gvc.2_Missense_Mutation_p.E425Q|NR5A2_uc009wzh.2_Missense_Mutation_p.E431Q|NR5A2_uc010pph.1_Missense_Mutation_p.E399Q	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	471					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					CCAGCTGGTAGAAGGTGTCCA	0.393		NA											3	15					0	0	0	0
LGR6	59352	broad.mit.edu	37	1	202288024	202288024	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:202288024G>A	uc001gxu.2	+	18	2593	c.2593G>A	c.(2593-2595)GAT>AAT	p.D865N	LGR6_uc001gxv.2_Missense_Mutation_p.D813N|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D726N	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	865	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GAGCTCCTGTGATTCTACCCA	0.652		NA											33	97					0	0	0	0
MYOG	4656	broad.mit.edu	37	1	203054939	203054939	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203054939C>T	uc001gzd.2	-	1	439	c.151G>A	c.(151-153)GAG>AAG	p.E51K		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	51					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						CCCTTGTCCTCAAGGGGCCCT	0.672		NA											40	77					0	0	0	0
FMOD	2331	broad.mit.edu	37	1	203316468	203316468	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316468C>G	uc001gzr.2	-	2	1067	c.931G>C	c.(931-933)GTC>CTC	p.V311L	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	311	LRR 9.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTGGTGTTGACTGGGGGGATC	0.527		NA											41	133					0	0	0	0
FMOD	2331	broad.mit.edu	37	1	203316478	203316478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316478C>G	uc001gzr.2	-	2	1057	c.921G>C	c.(919-921)AAG>AAC	p.K307N	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	307	LRR 9.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGGGGGATCTTCTGCAGCT	0.542		NA											43	132					0	0	0	0
CNTN2	6900	broad.mit.edu	37	1	205027723	205027723	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205027723G>A	uc001hbr.2	+	5	688	c.419G>A	c.(418-420)CGA>CAA	p.R140Q	CNTN2_uc001hbq.1_Missense_Mutation_p.R31Q|CNTN2_uc009xbi.2_Missense_Mutation_p.R31Q|CNTN2_uc001hbs.2_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	140	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGGAGGAGCGAGACCCAGTG	0.622		NA											28	18					0	0	0	0
CDK18	5129	broad.mit.edu	37	1	205495256	205495256	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205495256G>C	uc001hcr.2	+	6	829	c.610G>C	c.(610-612)GAG>CAG	p.E204Q	CDK18_uc010pri.1_Missense_Mutation_p.R194T|CDK18_uc001hcp.2_Missense_Mutation_p.E174Q|CDK18_uc001hcq.2_Missense_Mutation_p.E174Q|CDK18_uc010prj.1_Missense_Mutation_p.E85Q|CDK18_uc001hcs.2_Missense_Mutation_p.E85Q|CDK18_uc009xbm.1_Missense_Mutation_p.E85Q	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	172	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						GGCCCTGAAAGAGATCCGGCT	0.647		NA											10	28					0	0	0	0
IL10	3586	broad.mit.edu	37	1	206942023	206942023	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:206942023G>A	uc001hen.1	-	5	554	c.495C>T	c.(493-495)ATC>ATT	p.I165I		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	165					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTATGTAGTTGATGAAGATGT	0.408		NA											33	31					0	0	0	0
CD46	4179	broad.mit.edu	37	1	207925591	207925591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:207925591C>T	uc001hgc.2	+	1	190	c.34C>T	c.(34-36)CCT>TCT	p.P12S	CD46_uc001hgd.2_Missense_Mutation_p.P12S|CD46_uc001hge.2_Missense_Mutation_p.P12S|CD46_uc001hgf.2_Missense_Mutation_p.P12S|CD46_uc001hgg.2_Missense_Mutation_p.P12S|CD46_uc001hgh.2_Missense_Mutation_p.P12S|CD46_uc001hgi.2_Missense_Mutation_p.P12S|CD46_uc001hgj.2_Missense_Mutation_p.P12S|CD46_uc001hgk.2_Missense_Mutation_p.P12S|CD46_uc001hgl.2_Missense_Mutation_p.P12S|CD46_uc001hgm.2_Missense_Mutation_p.P12S|CD46_uc001hgn.2_Missense_Mutation_p.P12S|CD46_uc001hgo.2_Missense_Mutation_p.P12S|CD46_uc001hgp.2_Missense_Mutation_p.P12S	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	12					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						GTGTCCCTTTCCTTCCTGGCG	0.667		NA											106	311					0	0	0	0
INTS7	25896	broad.mit.edu	37	1	212161241	212161241	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212161241G>T	uc001hiw.1	-	8	1089	c.984C>A	c.(982-984)TTC>TTA	p.F328L	INTS7_uc009xdb.1_Missense_Mutation_p.F328L|INTS7_uc001hix.1_Missense_Mutation_p.F204L|INTS7_uc001hiy.1_Missense_Mutation_p.F328L|INTS7_uc010pta.1_Missense_Mutation_p.F279L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	328					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAACTATACTGAAGTAATGTT	0.388		NA											18	62					2.35e-11	2.54e-11	1	0
NSL1	25936	broad.mit.edu	37	1	212964964	212964964	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212964964C>T	uc001hjn.2	-	1	176	c.142G>A	c.(142-144)GAA>AAA	p.E48K	NSL1_uc001hjm.2_Missense_Mutation_p.E48K|NSL1_uc010pti.1_Missense_Mutation_p.E48K|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	NSL1, MIND kinetochore complex component isoform	48					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TGTAGCATTTCGGTCACAGCC	0.652		NA											41	140					0	0	0	0
MARK1	4139	broad.mit.edu	37	1	220809219	220809219	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:220809219C>G	uc001hmn.3	+	13	1918	c.1321C>G	c.(1321-1323)CAG>GAG	p.Q441E	MARK1_uc009xdw.2_Missense_Mutation_p.Q441E|MARK1_uc010pun.1_Missense_Mutation_p.Q441E|MARK1_uc001hmm.3_Missense_Mutation_p.Q419E	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	441					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		CAAAAGACCTCAGGCTAACAG	0.408		NA											30	76					0	0	0	0
MIA3	375056	broad.mit.edu	37	1	222802603	222802603	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:222802603G>A	uc001hnl.2	+	4	2050	c.2041G>A	c.(2041-2043)GAA>AAA	p.E681K	MIA3_uc009xea.1_Missense_Mutation_p.E517K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	681	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CTCTGAGGGAGAAGCCAAAGA	0.498		NA											33	112					0	0	0	0
SUSD4	55061	broad.mit.edu	37	1	223438081	223438081	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:223438081C>T	uc001hnx.2	-	4	1249	c.615G>A	c.(613-615)GTG>GTA	p.V205V	SUSD4_uc001hny.3_Silent_p.V205V|SUSD4_uc010puw.1_Silent_p.V45V|SUSD4_uc001hnz.2_Silent_p.V205V|SUSD4_uc010pux.1_Silent_p.V134V	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	205	Sushi 3.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		GATAGGAGATCACAGTCCCCA	0.512		NA											46	117					0	0	0	0
TARBP1	6894	broad.mit.edu	37	1	234546228	234546228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:234546228G>C	uc001hwd.2	-	23	3755	c.3755C>G	c.(3754-3756)TCA>TGA	p.S1252*		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1252					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCTAAATGTGATAAAACTGC	0.259		NA											10	92					0	0	0	0
ERO1LB	56605	broad.mit.edu	37	1	236399689	236399689	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:236399689G>T	uc001hxt.2	-	7	771	c.515C>A	c.(514-516)TCT>TAT	p.S172Y	ERO1LB_uc010pxt.1_3'UTR	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	172					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGCAGCTGGAGATCTCTCATC	0.403		NA											61	144					7.92e-34	8.84e-34	1	0
OR2W5	441932	broad.mit.edu	37	1	247655066	247655066	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247655066C>T	uc001icz.1	+	1	637	c.637C>T	c.(637-639)CCT>TCT	p.P213S		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCCGCTCTCCCTCATCCTCA	0.562		NA											10	150					0	0	0	0
OR2G2	81470	broad.mit.edu	37	1	247751981	247751981	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247751981C>T	uc010pyy.1	+	1	320	c.320C>T	c.(319-321)TCC>TTC	p.S107F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTACAACTCCCATGCCCTG	0.537		NA											58	161					0	0	0	0
ZMYND11	10771	broad.mit.edu	37	10	294371	294371	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:294371G>A	uc010pzt.1	+	13	1751	c.1323G>A	c.(1321-1323)AAG>AAA	p.K441K	ZMYND11_uc001ifk.2_Silent_p.K440K|ZMYND11_uc010pzu.1_Silent_p.K441K|ZMYND11_uc010pzv.1_Silent_p.K386K|ZMYND11_uc010pzw.1_Silent_p.K356K|ZMYND11_uc001ifm.2_Silent_p.K387K|ZMYND11_uc010pzx.1_Silent_p.K441K|ZMYND11_uc001ifn.2_Silent_p.K387K|ZMYND11_uc009xhg.2_Silent_p.K424K|ZMYND11_uc009xhh.2_Silent_p.K315K|ZMYND11_uc010pzy.1_Silent_p.K293K	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	401					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCAGACAAAGAAGTTAAGTG	0.488		NA											48	66					0	0	0	0
GDI2	2665	broad.mit.edu	37	10	5807996	5807996	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:5807996C>G	uc001iil.3	-	11	1602	c.1311G>C	c.(1309-1311)AAG>AAC	p.K437N	GDI2_uc001iim.3_Missense_Mutation_p.K392N|GDI2_uc009xid.2_Missense_Mutation_p.K441N	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	437					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						TGTCATTCTTCTTGCGCTTCA	0.338		NA											56	103					0	0	0	0
PFKFB3	5209	broad.mit.edu	37	10	6263358	6263358	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:6263358G>C	uc001ije.2	+	9	1230	c.846G>C	c.(844-846)CTG>CTC	p.L282L	PFKFB3_uc001ijd.2_Silent_p.L262L|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.L296L|PFKFB3_uc001ijf.2_Silent_p.L282L|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	282	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CCAGTGCTCTGAGCAAGTTCG	0.647		NA											14	14					0	0	0	0
DHTKD1	55526	broad.mit.edu	37	10	12155015	12155015	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:12155015C>T	uc001ild.3	+	13	2370	c.2271C>T	c.(2269-2271)TTC>TTT	p.F757F		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	757					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCGGAACTTCAGAAAACCAC	0.478		NA											39	84					0	0	0	0
ABI1	10006	broad.mit.edu	37	10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27048155G>A	uc001isx.2	-	9	1081	c.914C>T	c.(913-915)TCA>TTA	p.S305L	ABI1_uc001ite.2_Missense_Mutation_p.S272L|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S278L|ABI1_uc001ita.2_Missense_Mutation_p.S278L|ABI1_uc001isz.2_Missense_Mutation_p.S273L|ABI1_uc001itb.2_Missense_Mutation_p.S322L|ABI1_uc001itc.2_Missense_Mutation_p.S277L|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S277L|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S144L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	305	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						ACCAGGAGCTGAGCCCGGGGC	0.498		NA											28	56					0	0	0	0
ANKRD26	22852	broad.mit.edu	37	10	27326148	27326148	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27326148C>G	uc001ith.2	-	23	2833	c.2661G>C	c.(2659-2661)GAG>GAC	p.E887D	ANKRD26_uc001itg.2_Missense_Mutation_p.E574D|ANKRD26_uc009xku.1_Missense_Mutation_p.E888D	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	887						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CCATTTCAATCTCCTTTTGTT	0.328		NA											34	84					0	0	0	0
RET	5979	broad.mit.edu	37	10	43619153	43619153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:43619153A>G	uc001jal.2	+	17	3026	c.2836A>G	c.(2836-2838)ACC>GCC	p.T946A	RET_uc001jak.1_Missense_Mutation_p.T946A|RET_uc010qez.1_Missense_Mutation_p.T692A	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	946	Protein kinase.|Cytoplasmic (Potential).		T -> M (in MEN2B and MTC; familial form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGAGATCGTGACCCTAGGGGG	0.612		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				73	104					0	0	0	0
STOX1	219736	broad.mit.edu	37	10	70645407	70645407	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:70645407G>A	uc001jos.2	+	3	1942	c.1855G>A	c.(1855-1857)GAA>AAA	p.E619K	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.E509K	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	619						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						GGTAATTCCTGAAGTCTTGAG	0.443		NA											27	80					0	0	0	0
COL13A1	1305	broad.mit.edu	37	10	71690269	71690269	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:71690269G>C	uc001jpr.1	+	28	2147	c.1611G>C	c.(1609-1611)GAG>GAC	p.E537D	COL13A1_uc001jqj.1_Missense_Mutation_p.E537D|COL13A1_uc001jps.1_Missense_Mutation_p.E508D|COL13A1_uc001jpt.1_Missense_Mutation_p.E496D|COL13A1_uc001jpu.1_Missense_Mutation_p.E518D|COL13A1_uc001jpv.1_Missense_Mutation_p.E537D|COL13A1_uc001jpx.1_Missense_Mutation_p.E515D|COL13A1_uc001jpw.1_Missense_Mutation_p.E484D|COL13A1_uc001jpy.1_Missense_Mutation_p.E475D|COL13A1_uc001jpz.1_Missense_Mutation_p.E480D|COL13A1_uc001jqa.1_Missense_Mutation_p.E477D|COL13A1_uc001jqc.1_Missense_Mutation_p.E537D|COL13A1_uc001jqb.1_Missense_Mutation_p.E486D|COL13A1_uc001jql.2_Missense_Mutation_p.E537D|COL13A1_uc001jqd.1_Missense_Mutation_p.E525D|COL13A1_uc001jqe.1_Missense_Mutation_p.E520D|COL13A1_uc001jqf.1_Missense_Mutation_p.E518D|COL13A1_uc001jqg.1_Missense_Mutation_p.E515D|COL13A1_uc001jqh.1_Missense_Mutation_p.E537D|COL13A1_uc001jqi.1_Missense_Mutation_p.E537D|COL13A1_uc010qjf.1_Missense_Mutation_p.E327D	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	537	Extracellular (Potential).|Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	GCCCAGGAGAGAAGGGGGAAA	0.627		NA											13	23					0	0	0	0
PPP3CB	5532	broad.mit.edu	37	10	75230956	75230956	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75230956G>A	uc001jue.2	-	6	816	c.681C>T	c.(679-681)TTC>TTT	p.F227F	PPP3CB_uc001juf.2_Silent_p.F227F|PPP3CB_uc001jug.2_Silent_p.F227F|PPP3CB_uc001jui.2_Silent_p.F245F|PPP3CB_uc001juh.2_Silent_p.F141F	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	227	Catalytic.									skin(1)	1	Prostate(51;0.0119)					GTGGCTCTTTGAATCTATCTA	0.343		NA											22	53					0	0	0	0
SEC24C	9632	broad.mit.edu	37	10	75525644	75525644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75525644G>T	uc001juw.2	+	11	1632	c.1453G>T	c.(1453-1455)GAA>TAA	p.E485*	SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Nonsense_Mutation_p.E343*|SEC24C_uc001jux.2_Nonsense_Mutation_p.E485*|SEC24C_uc010qko.1_Nonsense_Mutation_p.E366*|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	485					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					GGGCTCTTATGAATTCTTGGC	0.507		NA											73	129					3.55e-40	3.96e-40	1	0
AP3M1	26985	broad.mit.edu	37	10	75897965	75897965	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75897965C>T	uc001jwf.2	-	2	603	c.173G>A	c.(172-174)AGT>AAT	p.S58N	AP3M1_uc001jwg.2_Missense_Mutation_p.S58N|AP3M1_uc001jwh.2_Missense_Mutation_p.S58N|AP3M1_uc010qla.1_Missense_Mutation_p.S58N	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	58					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					CCGGTAGATACTGATGAGGTA	0.428		NA											30	48					0	0	0	0
CPEB3	22849	broad.mit.edu	37	10	93902855	93902855	+	Missense_Mutation	SNP	G	G	A	rs141047227		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:93902855G>A	uc001khw.1	-	6	1557	c.1384C>T	c.(1384-1386)CGC>TGC	p.R462C	CPEB3_uc001khu.1_Missense_Mutation_p.R471C|CPEB3_uc001khv.1_Missense_Mutation_p.R448C|CPEB3_uc010qnn.1_Missense_Mutation_p.R448C	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	462	RRM 1.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				CCAAACCTGCGAAAGCTGGCA	0.388		NA											27	46					0	0	0	0
RRP12	23223	broad.mit.edu	37	10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	rs116818150	by1000genomes	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:99120333C>T	uc001knf.2	-	31	3749	c.3610G>A	c.(3610-3612)GAG>AAG	p.E1204K	RRP12_uc001kne.2_Missense_Mutation_p.E219K|RRP12_uc009xvl.2_Missense_Mutation_p.E321K|RRP12_uc009xvm.2_Missense_Mutation_p.E922K|RRP12_uc010qou.1_Missense_Mutation_p.E1143K|RRP12_uc009xvn.2_Missense_Mutation_p.E1104K	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1204						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557		NA											35	55					0	0	0	0
TAF5	6877	broad.mit.edu	37	10	105139422	105139422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:105139422G>T	uc001kwv.2	+	4	1194	c.1171G>T	c.(1171-1173)GAA>TAA	p.E391*	TAF5_uc010qqq.1_Nonsense_Mutation_p.E391*	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	391					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGACGAGGATGAAGAGGGAGA	0.323		NA											11	23					3.27e-08	3.48e-08	1	0
INPP5F	22876	broad.mit.edu	37	10	121541174	121541174	+	Missense_Mutation	SNP	G	G	C	rs150684982		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:121541174G>C	uc001leo.2	+	3	372	c.206G>C	c.(205-207)CGG>CCG	p.R69P	INPP5F_uc001len.3_Missense_Mutation_p.R69P	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	69							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTCTAATTCGGCAGAAAGCA	0.423		NA											15	41					0	0	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930719	133930719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:133930719G>A	uc001lkx.3	+	2	274	c.274G>A	c.(274-276)GAG>AAG	p.E92K		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCTGTGCGTGAGACGCTGCT	0.597		NA											14	36					0	0	0	0
TALDO1	6888	broad.mit.edu	37	11	747535	747535	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:747535C>G	uc001lqz.2	+	1	104	c.54C>G	c.(52-54)CTC>CTG	p.L18L	TALDO1_uc010qwl.1_Silent_p.L18L|TALDO1_uc001lra.2_Silent_p.L18L	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	18					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGACCAGCTCAAGCAGTTCA	0.602		NA											5	9					0	0	0	0
ZNF214	7761	broad.mit.edu	37	11	7022289	7022289	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:7022289G>C	uc001mfa.2	-	3	928	c.625C>G	c.(625-627)CTA>GTA	p.L209V	ZNF214_uc010ray.1_Missense_Mutation_p.L209V|ZNF214_uc009yfh.1_Missense_Mutation_p.L209V	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCTCAGTAGGTCTTCTTGA	0.398		NA											40	19					0	0	0	0
USP47	55031	broad.mit.edu	37	11	11924275	11924275	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:11924275G>A	uc001mjq.1	+	7	1430	c.667G>A	c.(667-669)GAA>AAA	p.E223K	USP47_uc001mjr.2_Missense_Mutation_p.E135K|USP47_uc001mjs.2_Missense_Mutation_p.E203K	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	223					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		GGAATTTGAAGAATCTGAAGA	0.244		NA											22	11					0	0	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956206	18956206	+	Silent	SNP	C	C	T	rs147529961	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:18956206C>T	uc001mpg.2	-	1	344	c.126G>A	c.(124-126)CTG>CTA	p.L42L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	42	Helical; Name=1; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						CGTTTCCTGTCAGCCCGACAA	0.562		NA											54	108					0	0	0	0
NELL1	4745	broad.mit.edu	37	11	21581825	21581825	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:21581825C>T	uc001mqe.2	+	17	2030	c.1877C>T	c.(1876-1878)TCT>TTT	p.S626F	NELL1_uc001mqf.2_Missense_Mutation_p.S579F|NELL1_uc009yid.2_Missense_Mutation_p.S654F|NELL1_uc010rdo.1_Missense_Mutation_p.S569F|NELL1_uc010rdp.1_Missense_Mutation_p.S339F|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	626	EGF-like 6; calcium-binding (Potential).			S -> C (in Ref. 7; AAB06946).	cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						CTCTGCCCCTCTGGGCCCTCC	0.537		NA											29	24					0	0	0	0
QSER1	79832	broad.mit.edu	37	11	32953947	32953947	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:32953947G>C	uc001mty.2	+	4	1023	c.756G>C	c.(754-756)AAG>AAC	p.K252N	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	252	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TACAACAGAAGACCTCCCAGG	0.438		NA											30	46					0	0	0	0
HIPK3	10114	broad.mit.edu	37	11	33308711	33308711	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:33308711G>A	uc001mul.1	+	2	1021	c.751G>A	c.(751-753)GAA>AAA	p.E251K	HIPK3_uc001mum.1_Missense_Mutation_p.E251K|HIPK3_uc009yjv.1_Missense_Mutation_p.E251K	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	251	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						GCTCAGTACTGAAAATGCTGA	0.363		NA											24	30					0	0	0	0
OR5D14	219436	broad.mit.edu	37	11	55563457	55563457	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55563457C>T	uc010rim.1	+	1	426	c.426C>T	c.(424-426)CTC>CTT	p.L142L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CACAGAGGCTCTGTGCCCTGC	0.517		NA											32	50					0	0	0	0
OR8I2	120586	broad.mit.edu	37	11	55860932	55860932	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55860932G>A	uc010rix.1	+	1	149	c.149G>A	c.(148-150)AGA>AAA	p.R50K		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					ACGTTAATCAGAATGGATTCT	0.373		NA											95	155					0	0	0	0
LRRC55	219527	broad.mit.edu	37	11	56950027	56950027	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:56950027C>T	uc001njl.1	+	1	807	c.660C>T	c.(658-660)CTC>CTT	p.L220L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	190	LRR 5.					integral to membrane					0						TGGCCTTCCTCAGCCTGGAGG	0.652		NA											34	49					0	0	0	0
C11orf31	280636	broad.mit.edu	37	11	57509396	57509396	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:57509396G>C	uc010rjx.1	+	3	584	c.238G>C	c.(238-240)GAG>CAG	p.E80Q	CTNND1_uc001nlf.1_Intron	NM_170746	NP_734467	Q8IZQ5	SELH_HUMAN	selenoprotein H	80					cell redox homeostasis		selenium binding				0						GGGCAGCTTCGAGGTGACGCT	0.677		NA											5	6					0	0	0	0
OR5B17	219965	broad.mit.edu	37	11	58126450	58126450	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58126450G>A	uc010rke.1	-	1	93	c.93C>T	c.(91-93)CTC>CTT	p.L31L		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGTAGATGAGGGTAAACA	0.443		NA											60	89					0	0	0	0
FAM111A	63901	broad.mit.edu	37	11	58920182	58920182	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58920182G>T	uc010rkp.1	+	5	1268	c.1041G>T	c.(1039-1041)GTG>GTT	p.V347V	FAM111A_uc010rkq.1_Silent_p.V347V|FAM111A_uc010rkr.1_Silent_p.V347V|FAM111A_uc001nno.2_Silent_p.V347V|FAM111A_uc001nnp.2_Silent_p.V347V|FAM111A_uc001nnq.2_Silent_p.V347V	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	347					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				TTAAAGTAGTGAAACTTCTTG	0.348		NA											34	53					4.34e-12	4.7e-12	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205277	61205277	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61205277G>A	uc001nrt.2	+	2	239	c.217G>A	c.(217-219)GAG>AAG	p.E73K		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor	73					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			ovary(2)	2						CCTGCTCTATGAGAGCAGAAA	0.373		NA							Familial_Paragangliomas				38	77					0	0	0	0
C11orf9	745	broad.mit.edu	37	11	61543821	61543821	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61543821G>A	uc001nsc.1	+	10	1512	c.1416G>A	c.(1414-1416)ACG>ACA	p.T472T	C11orf9_uc001nse.1_Silent_p.T463T|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	472	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						AGCAGGTCACGAAGGTGACTG	0.657		NA									OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0	0	0	0
MTA2	9219	broad.mit.edu	37	11	62365499	62365499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365499C>A	uc001ntq.1	-	6	868	c.487G>T	c.(487-489)GAG>TAG	p.E163*	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	163	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TGCTTACCCTCTACTAGGCGA	0.313		NA											58	155					7.06e-25	7.85e-25	1	0
MTA2	9219	broad.mit.edu	37	11	62365820	62365820	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365820C>G	uc001ntq.1	-	5	732	c.351G>C	c.(349-351)TTG>TTC	p.L117F	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	117	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGTACTGGCTCAAGATATCTG	0.517		NA											181	348					0	0	0	0
STX5	6811	broad.mit.edu	37	11	62575026	62575026	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62575026G>T	uc001nvh.2	-	11	1137	c.983C>A	c.(982-984)TCT>TAT	p.S328Y	NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmi.1_Missense_Mutation_p.S232Y|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.S274Y|STX5_uc010rmj.1_3'UTR|STX5_uc001nvj.2_Missense_Mutation_p.S143Y	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	328	Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2						GGAGGTGACAGACTGGAAGTA	0.532		NA											14	24					7.93e-07	8.34e-07	1	0
RTN3	10313	broad.mit.edu	37	11	63487851	63487851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:63487851C>A	uc001nxq.2	+	3	2064	c.1877C>A	c.(1876-1878)TCA>TAA	p.S626*	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Nonsense_Mutation_p.S607*|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Nonsense_Mutation_p.S514*|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	626					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						ACAGAATTCTCATTAAATGTG	0.388		NA											40	62					5.59e-11	6.02e-11	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64603995	64603995	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64603995C>G	uc001obs.3	-	12	1392	c.1392G>C	c.(1390-1392)CTG>CTC	p.L464L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	464	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CCTTGTCCCTCAGCATCTCTG	0.602		NA									OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	38					0	0	0	0
ATG2A	23130	broad.mit.edu	37	11	64662529	64662529	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64662529C>G	uc001obx.2	-	41	5848	c.5733G>C	c.(5731-5733)CTG>CTC	p.L1911L	uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Silent_p.L676L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1911							protein binding			ovary(1)|central_nervous_system(1)	2						TGCCCCCGAGCAGGCTGGACG	0.706		NA											23	47					0	0	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177168	67177168	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177168C>G	uc001ola.2	+	10	1313	c.1284C>G	c.(1282-1284)ATC>ATG	p.I428M	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	428	Interaction with calcineurin.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCCCCCATCGAGGGGCCCC	0.682		NA											11	25					0	0	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177203	67177203	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177203C>G	uc001ola.2	+	10	1348	c.1319C>G	c.(1318-1320)TCC>TGC	p.S440C	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	440	Interaction with calcineurin.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCACCTCCTTCCTGGAC	0.657		NA											19	22					0	0	0	0
GAL	51083	broad.mit.edu	37	11	68456340	68456340	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68456340G>C	uc001oob.2	+	5	465	c.247G>C	c.(247-249)GAA>CAA	p.E83Q		NM_015973	NP_057057	P22466	GALA_HUMAN	galanin preproprotein	83					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity				0	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCCATACCTGAAAACAATAT	0.418		NA											5	28					0	0	0	0
CPT1A	1374	broad.mit.edu	37	11	68542817	68542817	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68542817G>A	uc001oog.3	-	13	1712	c.1542C>T	c.(1540-1542)TAC>TAT	p.Y514Y	CPT1A_uc001oof.3_Silent_p.Y514Y|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	514	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCTGGTGGGGTACGGAATGT	0.502		NA											44	75					0	0	0	0
FADD	8772	broad.mit.edu	37	11	70049837	70049837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:70049837C>T	uc001opm.2	+	1	569	c.272C>T	c.(271-273)GCG>GTG	p.A91V		NM_003824	NP_003815	Q13158	FADD_HUMAN	Fas-associated via death domain	91					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			ovary(1)|lung(1)|pancreas(1)	3	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			gccggggccgcgcctggggaa	0.507		NA											3	12					0	0	0	0
PHOX2A	401	broad.mit.edu	37	11	71952253	71952253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:71952253C>T	uc001osh.3	-	2	470	c.298G>A	c.(298-300)GCG>ACG	p.A100T		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	100	Homeobox.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTGAGCTGCGCGCTGGTGAAC	0.637		NA											15	23					0	0	0	0
RELT	84957	broad.mit.edu	37	11	73101849	73101849	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:73101849C>G	uc001otv.2	+	4	335	c.170C>G	c.(169-171)TCA>TGA	p.S57*	RELT_uc001otw.2_Nonsense_Mutation_p.S57*|RELT_uc009yto.1_5'UTR|RELT_uc001otx.2_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	57	TNFR-Cys.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GGCACCTTCTCAGCTGCATGG	0.647		NA											22	58					0	0	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935271	113935271	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:113935271G>A	uc001pop.2	+	2	1513	c.1249G>A	c.(1249-1251)GAG>AAG	p.E417K	ZBTB16_uc001poo.1_Missense_Mutation_p.E417K|ZBTB16_uc001poq.2_Missense_Mutation_p.E417K	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	417	C2H2-type 1.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGATAACGAGGCTGTGGA	0.632		NA											21	10					0	0	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121062	114121062	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:114121062G>C	uc001pop.2	+	7	2071	c.1807G>C	c.(1807-1809)GAG>CAG	p.E603Q	ZBTB16_uc001poq.2_Missense_Mutation_p.E603Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	603	C2H2-type 8.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAAGCCCTTTGAGTGTAAGCT	0.622		NA											21	23					0	0	0	0
OR8D1	283159	broad.mit.edu	37	11	124180474	124180474	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:124180474G>A	uc010sag.1	-	1	189	c.189C>T	c.(187-189)CTC>CTT	p.L63L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAAGCTGCTGAGGAAATAGT	0.463		NA											26	24					0	0	0	0
PUS3	83480	broad.mit.edu	37	11	125765351	125765351	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:125765351G>C	uc001qcy.2	-	3	810	c.712C>G	c.(712-714)CAG>GAG	p.Q238E	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	238						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		ATAGTCCTCTGAAAATTAATC	0.443		NA											34	18					0	0	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241000	134241000	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:134241000C>A	uc001qhp.2	+	13	1502	c.1314C>A	c.(1312-1314)ACC>ACA	p.T438T	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	438					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCAGCATCACCTCGTCTGGCA	0.527		NA											43	81					2.62e-09	2.8e-09	1	0
CACNA1C	775	broad.mit.edu	37	12	2774867	2774867	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:2774867G>A	uc009zdu.1	+	38	4976	c.4663G>A	c.(4663-4665)GAA>AAA	p.E1555K	CACNA1C_uc009zdv.1_Missense_Mutation_p.E1504K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1494K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1529K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1555K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1527K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1524K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1535K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1232K|CACNA1C_uc010sea.1_Missense_Mutation_p.E198K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1555	Cytoplasmic (Potential).|By similarity.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTATGACCCTGAAGCCAAGTA	0.517		NA											10	18					0	0	0	0
CD27	939	broad.mit.edu	37	12	6554306	6554306	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:6554306G>A	uc001qod.2	+	1	256	c.45G>A	c.(43-45)CTG>CTA	p.L15L	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	15					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity				0						TGGGGACCCTGGTGGGGCTCT	0.642		NA											9	15					0	0	0	0
DUSP16	80824	broad.mit.edu	37	12	12630651	12630651	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:12630651C>G	uc001rao.1	-	7	1746	c.1114G>C	c.(1114-1116)GAG>CAG	p.E372Q	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.E224Q	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	372					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGGCTGTCCTCTAACAGCGAC	0.517		NA											23	35					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019074	14019074	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:14019074G>C	uc001rbt.2	-	2	248	c.69C>G	c.(67-69)GGC>GGG	p.G23G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	23					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGCTCTGCTGCCTGACACGG	0.582		NA											23	34					0	0	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18439791	18439791	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:18439791G>C	uc001rdt.2	+	3	805	c.689G>C	c.(688-690)TGT>TCT	p.C230S	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.C230S|PIK3C2G_uc010sic.1_Missense_Mutation_p.C8S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	230					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				TCAATAGGTTGTTCCATTCAG	0.299		NA											3	8					0	0	0	0
RECQL	5965	broad.mit.edu	37	12	21629873	21629873	+	Silent	SNP	G	G	C	rs138413466		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:21629873G>C	uc001rex.2	-	9	1269	c.921C>G	c.(919-921)CTC>CTG	p.L307L	RECQL_uc001rey.2_Silent_p.L307L	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	307	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TCCCATTAATGAGCTTTACAA	0.318		NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					3	23					0	0	0	0
C12orf71	728858	broad.mit.edu	37	12	27235188	27235188	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27235188G>C	uc001rhq.2	-	1	268	c.229C>G	c.(229-231)CAG>GAG	p.Q77E		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	77											0						GGTTCATCCTGAATTTGGTCT	0.507		NA											17	30					0	0	0	0
MRPS35	60488	broad.mit.edu	37	12	27869326	27869326	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27869326C>G	uc001rih.2	+	3	304	c.256C>G	c.(256-258)CGA>GGA	p.R86G	MRPS35_uc001rii.2_Missense_Mutation_p.R86G	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35 precursor	86					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)					TCTTCCTGTTCGAATGGGTTA	0.433		NA											25	27					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40696615	40696615	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:40696615C>G	uc001rmg.3	+	26	3642	c.3521C>G	c.(3520-3522)TCT>TGT	p.S1174C	LRRK2_uc001rmh.1_Missense_Mutation_p.S796C|LRRK2_uc009zjw.2_Missense_Mutation_p.S12C|LRRK2_uc001rmi.2_Missense_Mutation_p.S7C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1174	LRR 8.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCCTCCTTCTATGACAATC	0.269		NA											46	121					0	0	0	0
C12orf54	121273	broad.mit.edu	37	12	48888677	48888677	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48888677G>A	uc001rrr.2	+	7	396	c.339G>A	c.(337-339)CTG>CTA	p.L113L	C12orf54_uc009zky.1_RNA	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	hypothetical protein LOC121273	113											0						TCCACAACCTGAAGACACAGC	0.498		NA											45	84					0	0	0	0
OR8S1	341568	broad.mit.edu	37	12	48919697	48919697	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919697G>A	uc010slu.1	+	1	283	c.283G>A	c.(283-285)GAG>AAG	p.E95K		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CATTTCAGTAGAGGGCTGCCT	0.527		NA											21	53					0	0	0	0
OR8S1	341568	broad.mit.edu	37	12	48919765	48919765	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919765G>T	uc010slu.1	+	1	351	c.351G>T	c.(349-351)GGG>GGT	p.G117G		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTCTCTCAGGGATGGCCTATG	0.537		NA											38	67					6.53e-18	7.18e-18	1	0
SCN8A	6334	broad.mit.edu	37	12	52156422	52156422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:52156422G>C	uc001ryw.2	+	15	2684	c.2506G>C	c.(2506-2508)GAC>CAC	p.D836H	SCN8A_uc010snl.1_Missense_Mutation_p.D701H|SCN8A_uc001ryy.2_Missense_Mutation_p.D701H	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	836	II.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGTCTAGCAGACGTGGAGGG	0.408		NA											47	86					0	0	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879964	53879964	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:53879964C>T	uc001sdm.1	-	5	696	c.598G>A	c.(598-600)GAG>AAG	p.E200K	MAP3K12_uc001sdn.1_Missense_Mutation_p.E233K	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	200	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						CGCAGTACCTCATACAGCTGG	0.597		NA											23	34					0	0	0	0
HOXC13	3229	broad.mit.edu	37	12	54338956	54338956	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:54338956G>C	uc001sei.2	+	2	1024	c.909G>C	c.(907-909)CAG>CAC	p.Q303H	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	303	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTGAGCGCCAGGTAACCATCT	0.577		NA	T	NUP98	AML								26	39					0	0	0	0
STAT2	6773	broad.mit.edu	37	12	56742395	56742395	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:56742395G>T	uc001slc.2	-	19	1720	c.1642C>A	c.(1642-1644)CCT>ACT	p.P548T	STAT2_uc001slb.2_Missense_Mutation_p.P90T|STAT2_uc001sld.2_Missense_Mutation_p.P544T	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	548					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						AACTTGCCAGGAGGGCTCTCT	0.527		NA											35	52					2.42e-17	2.65e-17	1	0
LRP1	4035	broad.mit.edu	37	12	57573152	57573152	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57573152C>T	uc001snd.2	+	29	5245	c.4779C>T	c.(4777-4779)ATC>ATT	p.I1593I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1593	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGATGGAGATCCGAGGTGTGG	0.567		NA											13	19					0	0	0	0
SHMT2	6472	broad.mit.edu	37	12	57626334	57626334	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57626334C>G	uc001snf.1	+	6	703	c.693C>G	c.(691-693)CTC>CTG	p.L231L	SHMT2_uc001sng.1_Silent_p.L127L|SHMT2_uc001snh.1_Silent_p.L70L|SHMT2_uc009zpk.1_Silent_p.L221L|SHMT2_uc001sni.1_Silent_p.L210L|SHMT2_uc010srg.1_Silent_p.L240L|SHMT2_uc001snj.1_Silent_p.L135L|SHMT2_uc010srh.1_Silent_p.L210L|SHMT2_uc001snk.1_Silent_p.L135L|SHMT2_uc010sri.1_Silent_p.L210L|SHMT2_uc001snl.2_Silent_p.L135L|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	231						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ATGCTCGCCTCATTGACTACG	0.632		NA											46	90					0	0	0	0
INHBE	83729	broad.mit.edu	37	12	57850383	57850383	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57850383G>A	uc001snw.2	+	2	1029	c.805G>A	c.(805-807)GAG>AAG	p.E269K		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	269					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						ACTGCAGCCCGAGGGGTACCA	0.612		NA									OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	48					0	0	0	0
METTL1	4234	broad.mit.edu	37	12	58163393	58163393	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:58163393G>C	uc010ssd.1	-	4	576	c.528C>G	c.(526-528)ATC>ATG	p.I176M	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Missense_Mutation_p.Q115E|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	methyltransferase-like protein 1 isoform a	176						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding				0	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GGGTGGGACTGATGATTCGCC	0.542		NA											45	95					0	0	0	0
E2F7	144455	broad.mit.edu	37	12	77419538	77419538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:77419538C>T	uc001sym.3	-	12	2601	c.2365G>A	c.(2365-2367)GGA>AGA	p.G789R	E2F7_uc009zse.2_Intron	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	789					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GCTATTGATCCAAGGCCAGGC	0.537		NA											20	32					0	0	0	0
C12orf50	160419	broad.mit.edu	37	12	88381726	88381726	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:88381726G>A	uc001tam.1	-	9	886	c.718C>T	c.(718-720)CAT>TAT	p.H240Y	C12orf50_uc001tan.2_Intron	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	240										skin(2)|ovary(1)	3						TGCTTTGGATGAGGACTGTCC	0.333		NA											24	37					0	0	0	0
FGD6	55785	broad.mit.edu	37	12	95603900	95603900	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603900T>A	uc001tdp.3	-	2	1384	c.1160A>T	c.(1159-1161)AAT>ATT	p.N387I	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	387					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						GGATTCCATATTCAATTCACT	0.333		NA											30	68					0	0	0	0
FGD6	55785	broad.mit.edu	37	12	95603902	95603902	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603902C>T	uc001tdp.3	-	2	1382	c.1158G>A	c.(1156-1158)TTG>TTA	p.L386L	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	386					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						ATTCCATATTCAATTCACTTT	0.333		NA											29	68					0	0	0	0
ARL1	400	broad.mit.edu	37	12	101794928	101794928	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:101794928G>C	uc001tib.2	-	4	397	c.248C>G	c.(247-249)TCA>TGA	p.S83*	ARL1_uc010svn.1_Nonsense_Mutation_p.S37*|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Nonsense_Mutation_p.S83*	NM_001177	NP_001168	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	83					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)	1		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATCTGTGTTTGAATAGTAACA	0.368		NA											28	77					0	0	0	0
CORO1C	23603	broad.mit.edu	37	12	109051145	109051145	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109051145C>T	uc001tnj.2	-	6	781	c.685G>A	c.(685-687)GAT>AAT	p.D229N	CORO1C_uc009zva.2_Missense_Mutation_p.D282N|CORO1C_uc010sxf.1_Missense_Mutation_p.D192N	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	229					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						ACATTGCCATCGGCCAGGAAG	0.547		NA											37	54					0	0	0	0
ACACB	32	broad.mit.edu	37	12	109675123	109675123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109675123G>C	uc001tob.2	+	34	4719	c.4600G>C	c.(4600-4602)GAA>CAA	p.E1534Q	ACACB_uc001toc.2_Missense_Mutation_p.E1534Q|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E200Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1534					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGAAGGTGTGGAAGTGACGGA	0.532		NA											27	42					0	0	0	0
UBE3B	89910	broad.mit.edu	37	12	109945505	109945505	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109945505G>A	uc001top.2	+	15	2190	c.1587G>A	c.(1585-1587)CTG>CTA	p.L529L	UBE3B_uc001toq.2_Silent_p.L529L|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L529L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	529					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TGGCCATGCTGATGCTGTTCT	0.498		NA											56	82					0	0	0	0
TRPV4	59341	broad.mit.edu	37	12	110246198	110246198	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:110246198G>C	uc001tpj.1	-	2	557	c.462C>G	c.(460-462)CTC>CTG	p.L154L	TRPV4_uc001tpg.1_Silent_p.L120L|TRPV4_uc001tph.1_Silent_p.L154L|TRPV4_uc001tpi.1_Silent_p.L154L|TRPV4_uc001tpk.1_Silent_p.L154L|TRPV4_uc001tpl.1_Silent_p.L154L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	154	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CGATGTCAAAGAGGATAGGCC	0.607		NA											17	56					0	0	0	0
DDX54	79039	broad.mit.edu	37	12	113612896	113612896	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:113612896C>A	uc001tup.2	-	8	847	c.819G>T	c.(817-819)CAG>CAT	p.Q273H	DDX54_uc001tuq.3_Missense_Mutation_p.Q273H	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	273	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						ACAGCACCGTCTGGTGGCCCC	0.468		NA									OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	53					1.22e-17	1.34e-17	1	0
WSB2	55884	broad.mit.edu	37	12	118474261	118474261	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:118474261G>C	uc001twr.2	-	6	813	c.715C>G	c.(715-717)CAA>GAA	p.Q239E	WSB2_uc010sza.1_Missense_Mutation_p.Q14E|WSB2_uc010szb.1_Missense_Mutation_p.Q29E|WSB2_uc009zws.1_Missense_Mutation_p.Q239E	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	239	WD 4.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACTGCTTTGATGGCCCTCT	0.507		NA											56	87					0	0	0	0
CCDC64	92558	broad.mit.edu	37	12	120518755	120518755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:120518755C>T	uc001txl.1	+	7	1398	c.1373C>T	c.(1372-1374)TCT>TTT	p.S458F	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.S129F|CCDC64_uc010szf.1_Missense_Mutation_p.S155F	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	458	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGTCACTTCTGAGGACAAG	0.498		NA											21	34					0	0	0	0
GPR109B	8843	broad.mit.edu	37	12	123200745	123200745	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:123200745G>C	uc001ucy.3	-	1	695	c.540C>G	c.(538-540)TTC>TTG	p.F180L	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	180	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GGCAGATGCTGAAGCTGATGC	0.522		NA											25	53					0	0	0	0
GPR133	283383	broad.mit.edu	37	12	131569129	131569129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:131569129G>C	uc001uit.3	+	15	2151	c.1592G>C	c.(1591-1593)AGA>ACA	p.R531T	GPR133_uc010tbm.1_Missense_Mutation_p.R563T|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R50T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	531	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCGCTCACGAGAGGAAACCTC	0.622		NA											20	32					0	0	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24243009	24243009	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:24243009G>A	uc001uov.1	+	9	1082	c.1018G>A	c.(1018-1020)GAA>AAA	p.E340K	TNFRSF19_uc001uot.2_Missense_Mutation_p.E340K|TNFRSF19_uc010tcu.1_Missense_Mutation_p.E208K|TNFRSF19_uc001uow.2_Missense_Mutation_p.E340K	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	340	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTCAATCCAGAACTTGAAAG	0.448		NA											46	40					0	0	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149790	45149790	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149790G>C	uc001uzn.3	-	1	912	c.421C>G	c.(421-423)CTG>GTG	p.L141V	TSC22D1_uc001uzo.1_Missense_Mutation_p.L141V	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	141					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATTCATCCAGATCATCATAG	0.488		NA											26	21					0	0	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149798	45149798	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149798T>C	uc001uzn.3	-	1	904	c.413A>G	c.(412-414)TAT>TGT	p.Y138C	TSC22D1_uc001uzo.1_Missense_Mutation_p.Y138C	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	138					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAGATCATCATAGCTCTCAGT	0.473		NA											25	23					0	0	0	0
RAP2A	5911	broad.mit.edu	37	13	98086796	98086796	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:98086796G>C	uc001vnd.2	+	1	322	c.72G>C	c.(70-72)GTG>GTC	p.V24V		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	24					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TGCAGTTCGTGACCGGCACCT	0.542		NA											34	19					0	0	0	0
MYH7	4625	broad.mit.edu	37	14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:23901905C>T	uc001wjx.2	-	5	551	c.445G>A	c.(445-447)GAG>AAG	p.E149K		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGGGGCCTCGCTCCTCTTC	0.597		NA											47	30					0	0	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886199	24886199	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:24886199C>T	uc001wpf.3	+	9	5562	c.5244C>T	c.(5242-5244)TTC>TTT	p.F1748F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1748	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						ACCTGGCCTTCAGGGCCTCCT	0.612		NA											12	9					0	0	0	0
POLE2	5427	broad.mit.edu	37	14	50117106	50117106	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:50117106G>C	uc001wwu.2	-	17	1388	c.1374C>G	c.(1372-1374)GTC>GTG	p.V458V	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.V172V|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.V173V	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	458					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACACTGGGCAGACATAAAGAG	0.398		NA											44	20					0	0	0	0
DLGAP5	9787	broad.mit.edu	37	14	55625316	55625316	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:55625316C>G	uc001xbs.2	-	14	2014	c.1797G>C	c.(1795-1797)GTG>GTC	p.V599V	DLGAP5_uc001xbt.2_Silent_p.V599V	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	599					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						CCTTTGGTATCACAGAAACTG	0.363		NA											30	23					0	0	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048118	58048118	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:58048118C>A	uc001xdb.1	-	4	729	c.729G>T	c.(727-729)CTG>CTT	p.L243L	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.L84L	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						GTTTCAGCGTCAGACCATCTT	0.403		NA											3	9					0.004672	0.00476727	1	0
ACTN1	87	broad.mit.edu	37	14	69352204	69352204	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:69352204C>G	uc001xkl.2	-	12	1633	c.1323G>C	c.(1321-1323)GAG>GAC	p.E441D	ACTN1_uc001xkk.2_Missense_Mutation_p.E37D|ACTN1_uc010ttb.1_Missense_Mutation_p.E376D|ACTN1_uc001xkm.2_Missense_Mutation_p.E441D|ACTN1_uc001xkn.2_Missense_Mutation_p.E441D|ACTN1_uc010ttc.1_Missense_Mutation_p.E26D|ACTN1_uc001xko.1_Missense_Mutation_p.E376D|ACTN1_uc010ttd.1_Missense_Mutation_p.E420D	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	441	Spectrin 2.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGTCACTCTCGAAGGCCT	0.617		NA											16	11					0	0	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70839806	70839806	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70839806C>T	uc001xmc.3	-	4	467	c.340G>A	c.(340-342)GAC>AAC	p.D114N	SYNJ2BP_uc010arc.2_RNA	NM_018373	NP_060843	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	114	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane					0				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CCACTTGGGTCCCCTTCACCT	0.463		NA											38	21					0	0	0	0
ADAM21	8747	broad.mit.edu	37	14	70925890	70925890	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70925890C>G	uc001xmd.2	+	1	1674	c.1674C>G	c.(1672-1674)GTC>GTG	p.V558V		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	558	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTCTGATGTCTTTTGTGGGA	0.398		NA											34	20					0	0	0	0
SPTLC2	9517	broad.mit.edu	37	14	77984395	77984395	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:77984395C>G	uc001xub.2	-	11	1743	c.1555G>C	c.(1555-1557)GAA>CAA	p.E519Q		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	519						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAAGTATTTCTTTGGTATGA	0.393		NA											48	15					0	0	0	0
TRIP11	9321	broad.mit.edu	37	14	92488172	92488172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:92488172C>G	uc001xzy.2	-	4	1104	c.316G>C	c.(316-318)GAA>CAA	p.E106Q		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	106	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TGGCTGATTTCTACCTATATA	0.358		NA	T	PDGFRB	AML								20	15					0	0	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756786	94756786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:94756786C>A	uc001yct.2	-	2	611	c.145G>T	c.(145-147)GAG>TAG	p.E49*	SERPINA10_uc001ycu.3_Nonsense_Mutation_p.E49*	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	49					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCATCTTCCTCTTCCTCCTTG	0.617		NA											6	5					0.00116845	0.00120075	1	0
ATG2B	55102	broad.mit.edu	37	14	96783494	96783494	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:96783494G>A	uc001yfi.2	-	20	3563	c.3198C>T	c.(3196-3198)TTC>TTT	p.F1066F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1066										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACATCTGTGAACACTGCTA	0.323		NA											34	33					0	0	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206422	104206422	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:104206422G>A	uc001yof.1	-	12	2614	c.2331C>T	c.(2329-2331)CCC>CCT	p.P777P	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P644P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	777	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTGGGGCTGTGGGCTGGGCAG	0.602		NA											51	32					0	0	0	0
NDN	4692	broad.mit.edu	37	15	23932341	23932341	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:23932341C>G	uc001ywk.2	-	1	110	c.24G>C	c.(22-24)CTG>CTC	p.L8L		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	8					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAGGGTCGCTCAGATCCTTAC	0.657		NA							Prader-Willi_syndrome				9	26					0	0	0	0
UBE3A	7337	broad.mit.edu	37	15	25599757	25599757	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:25599757C>T	uc001zaq.2	-	8	2207	c.2207G>A	c.(2206-2208)GGT>GAT	p.G736D	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.G713D|UBE3A_uc001zas.2_Missense_Mutation_p.G733D|UBE3A_uc001zat.2_Missense_Mutation_p.G713D	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	736					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CATATGAAAACCTCTCCGAAA	0.353		NA											34	64					0	0	0	0
GABRA5	2558	broad.mit.edu	37	15	27188522	27188522	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:27188522G>C	uc001zbd.1	+	11	1377	c.1038G>C	c.(1036-1038)AAG>AAC	p.K346N	GABRA5_uc001zbe.1_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	346	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTTACCAAGAGAGGCTGGG	0.522		NA											3	5					0	0	0	0
C15orf55	256646	broad.mit.edu	37	15	34646777	34646777	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:34646777C>G	uc001zif.2	+	5	1277	c.1122C>G	c.(1120-1122)ATC>ATG	p.I374M	C15orf55_uc010ucc.1_Missense_Mutation_p.I402M|C15orf55_uc010ucd.1_Missense_Mutation_p.I392M	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	374						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ATGTTGACATCATGGAATGGC	0.587		NA	T	BRD3|BRD4	lethal midline carcinoma								40	57					0	0	0	0
PLCB2	5330	broad.mit.edu	37	15	40591134	40591134	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:40591134C>G	uc001zld.2	-	9	1016	c.715G>C	c.(715-717)GAG>CAG	p.E239Q	PLCB2_uc010bbo.2_Missense_Mutation_p.E239Q|PLCB2_uc010ucm.1_Missense_Mutation_p.E239Q	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	239					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTCAGGTGCTCCTTCGTCATG	0.577		NA											26	69					0	0	0	0
CDAN1	146059	broad.mit.edu	37	15	43020963	43020963	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:43020963G>C	uc001zql.2	-	20	2808	c.2691C>G	c.(2689-2691)CTC>CTG	p.L897L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.L223L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	897						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCTGCTCTTGGAGAAGTGACT	0.607		NA											16	23					0	0	0	0
SPG11	80208	broad.mit.edu	37	15	44955770	44955770	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:44955770G>C	uc001ztx.2	-	1	107	c.76C>G	c.(76-78)CTA>GTA	p.L26V	SPG11_uc010ueh.1_Missense_Mutation_p.L26V|SPG11_uc010uei.1_Missense_Mutation_p.L26V|SPG11_uc001zua.1_Missense_Mutation_p.L26V	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	26	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCATCGGTAGAACCCGCCCC	0.721		NA											5	3					0	0	0	0
LEO1	123169	broad.mit.edu	37	15	52242003	52242003	+	Splice_Site	SNP	A	A	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:52242003A>T	uc002abo.2	-	10	1814	c.1798_splice	c.e10+1	p.E600_splice	LEO1_uc010bfd.2_Splice_Site_p.E540_splice	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		TACACGACTCACCTCGAATGC	0.453		NA											53	128					0	0	0	0
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:59373350C>T	uc002afv.2	+	8	2443	c.2164C>T	c.(2164-2166)CAG>TAG	p.Q722*	RNF111_uc002afs.2_Nonsense_Mutation_p.Q722*|RNF111_uc002aft.2_Nonsense_Mutation_p.Q722*|RNF111_uc002afu.2_Nonsense_Mutation_p.Q721*|RNF111_uc002afw.2_Nonsense_Mutation_p.Q722*|RNF111_uc002afx.2_Nonsense_Mutation_p.Q248*	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502		NA											48	91					0	0	0	0
RORA	6095	broad.mit.edu	37	15	60795042	60795042	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:60795042C>T	uc002agv.2	-	9	1355	c.1199G>A	c.(1198-1200)AGA>AAA	p.R400K	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R312K|RORA_uc002agw.2_Missense_Mutation_p.R392K|RORA_uc002agx.2_Missense_Mutation_p.R367K	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	400	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						ACGGCACATTCTGATAAACAC	0.458		NA											104	172					0	0	0	0
MYO9A	4649	broad.mit.edu	37	15	72154892	72154892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:72154892C>T	uc002atl.3	-	33	6513	c.6040G>A	c.(6040-6042)GAA>AAA	p.E2014K	MYO9A_uc002atk.2_Missense_Mutation_p.E809K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2014	Tail.|Phorbol-ester/DAG-type 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						GAACAGTATTCACAGTATGTA	0.358		NA											31	41					0	0	0	0
IREB2	3658	broad.mit.edu	37	15	78783062	78783062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:78783062C>G	uc002bdr.2	+	18	2445	c.2283C>G	c.(2281-2283)ATC>ATG	p.I761M	IREB2_uc010unb.1_Missense_Mutation_p.I511M	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	761							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAGGAAGTATCGCTAGGAATA	0.398		NA											85	151					0	0	0	0
IL16	3603	broad.mit.edu	37	15	81592437	81592437	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:81592437C>T	uc002bgh.3	+	14	3146	c.2770C>T	c.(2770-2772)CCC>TCC	p.P924S	IL16_uc010blq.1_Missense_Mutation_p.P878S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P966S|IL16_uc002bgg.2_Missense_Mutation_p.P924S|IL16_uc002bgi.1_Missense_Mutation_p.P314S|IL16_uc002bgj.2_Missense_Mutation_p.P418S|IL16_uc002bgk.2_Missense_Mutation_p.P223S|IL16_uc002bgl.1_Missense_Mutation_p.P223S|IL16_uc010unq.1_Missense_Mutation_p.P223S	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	924					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TGAGTCCCCTCCCCCAGGGCG	0.652		NA											36	42					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85399943	85399943	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:85399943G>A	uc002ble.2	+	6	2747	c.2580G>A	c.(2578-2580)CAG>CAA	p.Q860Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	860					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGCACAGAAGGGCATGA	0.542		NA											15	32					0	0	0	0
PDIA2	64714	broad.mit.edu	37	16	336596	336596	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:336596G>C	uc002cgn.1	+	14	2391	c.1283G>C	c.(1282-1284)TGG>TCG	p.W428S	PDIA2_uc010bqt.1_Missense_Mutation_p.W273S|PDIA2_uc002cgo.1_Missense_Mutation_p.W428S	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	428	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCTGCCTGGGAGGCATTG	0.627		NA											17	36					0	0	0	0
FBXL16	146330	broad.mit.edu	37	16	745766	745766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:745766G>T	uc002cjc.2	-	4	994	c.791C>A	c.(790-792)TCG>TAG	p.S264*	FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Nonsense_Mutation_p.S52*	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	264	LRR 1.										0		Hepatocellular(780;0.0218)				CAGCAGCTGCGAGATGGCCGC	0.692		NA											7	20					0.000673444	0.000693706	1	0
RPL3L	6123	broad.mit.edu	37	16	1996986	1996986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:1996986G>A	uc002cnh.2	-	6	849	c.802C>T	c.(802-804)CGG>TGG	p.R268W		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	268					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						TGCCCGGCCCGAGCAATGGAG	0.672		NA											31	69					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2153846	2153846	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2153846C>G	uc002cos.1	-	23	8421	c.8212G>C	c.(8212-8214)GAG>CAG	p.E2738Q	PKD1_uc002cot.1_Missense_Mutation_p.E2738Q|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2738	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GCTCCCAGCTCTGAGGGCTGT	0.567		NA											4	10					0	0	0	0
DCI	1632	broad.mit.edu	37	16	2296965	2296965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2296965C>G	uc002cpr.2	-	3	225	c.189G>C	c.(187-189)AAG>AAC	p.K63N	DCI_uc002cps.2_Missense_Mutation_p.K63N	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	63					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						CTGGGGGGTTCTTGAATTTCA	0.517		NA											12	25					0	0	0	0
ABCA3	21	broad.mit.edu	37	16	2334310	2334310	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2334310C>T	uc002cpy.1	-	25	4544	c.3832G>A	c.(3832-3834)GAG>AAG	p.E1278K	ABCA3_uc010bsk.1_Missense_Mutation_p.E1220K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1278					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCGGCGACCTCGGAGGAGGTG	0.622		NA											22	34					0	0	0	0
PRSS27	83886	broad.mit.edu	37	16	2764177	2764177	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2764177G>C	uc002crf.2	-	4	788	c.397C>G	c.(397-399)CCA>GCA	p.P133A	PRSS27_uc002cre.2_Missense_Mutation_p.P97A|PRSS27_uc002crg.2_Missense_Mutation_p.P31A|PRSS27_uc010bst.1_Missense_Mutation_p.P31A	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						AAGGGCACTGGTGCCTCCAGC	0.647		NA											23	26					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3779048	3779048	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:3779048C>T	uc002cvv.2	-	31	6204	c.6000G>A	c.(5998-6000)CTG>CTA	p.L2000L	CREBBP_uc002cvw.2_Silent_p.L1962L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2000					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCACATTCAGGCTCACGG	0.692		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				7	4					0	0	0	0
LITAF	9516	broad.mit.edu	37	16	11643571	11643571	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11643571G>C	uc002daz.2	-	4	641	c.408C>G	c.(406-408)TTC>TTG	p.F136L	LITAF_uc002dba.2_3'UTR|LITAF_uc002dbb.2_Missense_Mutation_p.F136L|LITAF_uc002dbc.2_Missense_Mutation_p.F136L|LITAF_uc002dbd.2_Missense_Mutation_p.F136L	NM_004862	NP_004853	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF-alpha factor	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			liver(1)	1						CATCCACGCAGAAGGGGATGA	0.582		NA											11	13					0	0	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773491	11773491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11773491C>T	uc010buu.1	-	13	2580	c.2518G>A	c.(2518-2520)GAA>AAA	p.E840K	TXNDC11_uc002dbg.1_Missense_Mutation_p.E813K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	840	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CTGCTTATTTCTGCTCTCAGT	0.597		NA											20	39					0	0	0	0
MYH11	4629	broad.mit.edu	37	16	15917115	15917115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:15917115G>A	uc002ddy.2	-	3	606	c.499C>T	c.(499-501)CAA>TAA	p.Q167*	MYH11_uc002ddv.2_Nonsense_Mutation_p.Q167*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q167*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q167*|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Nonsense_Mutation_p.Q167*	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	167	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CACTCACCTTGAAGCATGCTC	0.592		NA	T	CBFB	AML								25	51					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20952835	20952835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:20952835G>C	uc010vbe.1	-	59	11542	c.11542C>G	c.(11542-11544)CTC>GTC	p.L3848V	DNAH3_uc010vbd.1_Missense_Mutation_p.L1283V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3848					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGCTTGGAGAGAATGTCTTGT	0.478		NA											56	151					0	0	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950913	24950913	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:24950913C>G	uc002dnb.2	-	17	1589	c.1496G>C	c.(1495-1497)GGT>GCT	p.G499A	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Missense_Mutation_p.G23A|ARHGAP17_uc002dna.2_Missense_Mutation_p.G226A|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	499					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		AAGCTTCACACCAAAGCTACA	0.537		NA											15	9					0	0	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006744	30006744	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:30006744G>T	uc002dve.2	-	2	567	c.106C>A	c.(106-108)CAC>AAC	p.H36N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.H36N	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	36					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						CGGCCCGAGTGAGCTAAGTAC	0.662		NA											19	52					8.28e-16	9.06e-16	1	0
N4BP1	9683	broad.mit.edu	37	16	48595137	48595137	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595137C>T	uc002efp.2	-	2	1654	c.1417G>A	c.(1417-1419)GAA>AAA	p.E473K		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	473					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				CCCCAGACTTCATGTTTCTGT	0.383		NA											30	58					0	0	0	0
N4BP1	9683	broad.mit.edu	37	16	48595296	48595296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595296C>A	uc002efp.2	-	2	1495	c.1258G>T	c.(1258-1260)GAG>TAG	p.E420*		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	420					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GTTGTAAGCTCATTTGTGCTG	0.363		NA											27	40					7.42e-09	7.89e-09	1	0
ADCY7	113	broad.mit.edu	37	16	50325658	50325658	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:50325658C>T	uc002egd.1	+	3	655	c.387C>T	c.(385-387)TTC>TTT	p.F129F	ADCY7_uc002egb.1_Silent_p.F129F|ADCY7_uc002egc.1_Silent_p.F129F	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	129	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGCCCTTCTTCCTGTTCATTG	0.657		NA											4	19					0	0	0	0
SALL1	6299	broad.mit.edu	37	16	51174620	51174620	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:51174620G>C	uc010vgs.1	-	2	1544	c.1513C>G	c.(1513-1515)CAT>GAT	p.H505D	SALL1_uc010vgr.1_Missense_Mutation_p.H408D|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	505					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCTGGATATGAGGGTATTTC	0.512		NA											41	74					0	0	0	0
BBS2	583	broad.mit.edu	37	16	56536599	56536599	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:56536599G>A	uc002ejd.2	-	8	1160	c.926C>T	c.(925-927)TCA>TTA	p.S309L	BBS2_uc010ccg.2_Missense_Mutation_p.S309L	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	309					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						CCCATCCACTGAGCAGCAGAT	0.408		NA							Bardet-Biedl_syndrome				43	86					0	0	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238671	57238671	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57238671G>A	uc002elb.2	+	2	379	c.101G>A	c.(100-102)GGA>GAA	p.G34E	RSPRY1_uc002elc.2_Missense_Mutation_p.G34E|RSPRY1_uc002eld.2_Missense_Mutation_p.G34E|RSPRY1_uc002ele.1_Missense_Mutation_p.G34E	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	34						extracellular region	zinc ion binding			ovary(1)	1						CTAGGGACTGGAGGTGCCGCT	0.532		NA											88	131					0	0	0	0
CNGB1	1258	broad.mit.edu	37	16	57954370	57954370	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57954370G>C	uc002emt.2	-	19	1787	c.1722C>G	c.(1720-1722)CTC>CTG	p.L574L	CNGB1_uc010cdh.2_Silent_p.L568L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	574	IQ-like.|Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GCTCCTTGAAGAGCTTCACCA	0.592		NA											40	40					0	0	0	0
CCDC113	29070	broad.mit.edu	37	16	58301439	58301439	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:58301439G>T	uc002ene.2	+	7	919	c.840G>T	c.(838-840)CTG>CTT	p.L280L	CCDC113_uc010vid.1_Silent_p.L226L	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	280	Potential.					protein complex					0						AGATCTTGCTGAGAAAAGAGC	0.383		NA											32	53					1.56e-22	1.74e-22	1	0
CMTM2	146225	broad.mit.edu	37	16	66620961	66620961	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:66620961G>C	uc002ept.2	+	3	666	c.506G>C	c.(505-507)AGA>ACA	p.R169T	CMTM2_uc010cdu.2_Missense_Mutation_p.R116T	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	169	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTTGCTGTGAGAAGTCGGCGA	0.517		NA											37	85					0	0	0	0
CES8	283848	broad.mit.edu	37	16	67042973	67042973	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67042973C>G	uc002eqv.2	+	12	1447	c.1404C>G	c.(1402-1404)CTC>CTG	p.L468L	CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.L440L|CES8_uc002eqx.2_Silent_p.L344L|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.L440L|CES8_uc002eqz.2_RNA	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	538						extracellular region	carboxylesterase activity				0						GCATGAAGCTCAAGGAGAAGA	0.493		NA											64	132					0	0	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861873	67861873	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67861873C>G	uc002euj.2	+	16	2348	c.1954C>G	c.(1954-1956)CGA>GGA	p.R652G	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R706G|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R637G|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R385G	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	652					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGTGGGACCTCGAGAGCCAGA	0.537		NA											36	74					0	0	0	0
LCAT	3931	broad.mit.edu	37	16	67974294	67974294	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67974294G>C	uc002euy.1	-	6	847	c.836C>G	c.(835-837)TCT>TGT	p.S279C		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	279					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGCCATGCGAGAGGGAAACAT	0.552		NA											34	76					0	0	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985730	67985730	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67985730G>C	uc002euz.2	-	8	1269	c.1128C>G	c.(1126-1128)CTC>CTG	p.L376L	SLC12A4_uc010ceu.2_Silent_p.L370L|SLC12A4_uc010vkh.1_Silent_p.L345L|SLC12A4_uc010vki.1_Silent_p.L376L|SLC12A4_uc010vkj.1_Silent_p.L378L|SLC12A4_uc002eva.2_Silent_p.L376L|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	376	Helical; (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACCCACCCTGGAGCACACCAG	0.632		NA											8	14					0	0	0	0
NFATC3	4775	broad.mit.edu	37	16	68217146	68217146	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:68217146C>G	uc002evo.1	+	8	2185	c.1975C>G	c.(1975-1977)CAC>GAC	p.H659D	NFATC3_uc010vkl.1_Missense_Mutation_p.H180D|NFATC3_uc010vkm.1_Missense_Mutation_p.H180D|NFATC3_uc010vkn.1_Missense_Mutation_p.H180D|NFATC3_uc010vko.1_Missense_Mutation_p.H180D|NFATC3_uc010vkp.1_Missense_Mutation_p.H180D|NFATC3_uc010vkq.1_Missense_Mutation_p.H180D|NFATC3_uc002evl.2_Missense_Mutation_p.H180D|NFATC3_uc002evk.2_Missense_Mutation_p.H659D|NFATC3_uc002evm.1_Missense_Mutation_p.H659D|NFATC3_uc002evn.1_Missense_Mutation_p.H659D|NFATC3_uc010vkr.1_Missense_Mutation_p.H180D|NFATC3_uc010vks.1_Missense_Mutation_p.H180D|NFATC3_uc010vkt.1_Missense_Mutation_p.H180D|NFATC3_uc010vku.1_Missense_Mutation_p.H180D|NFATC3_uc010vkv.1_Missense_Mutation_p.H180D|NFATC3_uc010vkw.1_Missense_Mutation_p.H180D|NFATC3_uc010vkx.1_Missense_Mutation_p.H180D|NFATC3_uc010vky.1_Missense_Mutation_p.H180D|NFATC3_uc010vkz.1_Missense_Mutation_p.H180D|NFATC3_uc010vla.1_Missense_Mutation_p.H180D|NFATC3_uc010vlb.1_Missense_Mutation_p.H180D|NFATC3_uc010vlc.1_Missense_Mutation_p.H180D	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	659					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCCTTAGGCTCACATTGTCCT	0.418		NA											44	95					0	0	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444203	84444203	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:84444203C>T	uc002fhx.2	+	5	536	c.447C>T	c.(445-447)TTC>TTT	p.F149F	ATP2C2_uc010chj.2_Silent_p.F149F|ATP2C2_uc002fhy.2_Silent_p.F166F|ATP2C2_uc002fhz.2_Missense_Mutation_p.S19L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	149	Helical; Name=2; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CTGTCGCCTTCATCCAGGTGA	0.582		NA											46	38					0	0	0	0
FBXO31	79791	broad.mit.edu	37	16	87369778	87369778	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:87369778G>C	uc002fjw.2	-	6	869	c.825C>G	c.(823-825)ATC>ATG	p.I275M	FBXO31_uc010vot.1_Missense_Mutation_p.I103M|FBXO31_uc002fjv.2_Missense_Mutation_p.I167M	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	275					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GACTGGTGTAGATGAACTTCA	0.617		NA											12	17					0	0	0	0
CBFA2T3	863	broad.mit.edu	37	16	88947816	88947816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:88947816C>T	uc002fmm.1	-	9	1471	c.1285G>A	c.(1285-1287)GAG>AAG	p.E429K	CBFA2T3_uc002fml.1_Missense_Mutation_p.E343K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E368K|CBFA2T3_uc002fmk.1_5'Flank	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	429	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGAGCTCCTCGCGGTCGGCC	0.587		NA	T	RUNX1	AML								6	3					0	0	0	0
VPS53	55275	broad.mit.edu	37	17	463774	463775	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:463774_463775GA>AT	uc002frn.2	-	15	1742_1743	c.1595_1596TC>AT	c.(1594-1596)CTC>CAT	p.L532H	VPS53_uc002frk.2_Missense_Mutation_p.L51H|VPS53_uc010cjo.1_Missense_Mutation_p.L532H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.L503H|VPS53_uc002fro.2_Missense_Mutation_p.L334H|VPS53_uc010cjp.1_Missense_Mutation_p.L255H	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	532					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTTCCTTGAGGAGGCTGCTGAT	0.495		NA											3	35					0	0	0	0
GLOD4	51031	broad.mit.edu	37	17	685477	685477	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685477G>A	uc002frv.2	-	1	95	c.19C>T	c.(19-21)CTG>TTG	p.L7L	GLOD4_uc002fru.2_Silent_p.L7L|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	7						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGAAGTGCAGAGCTCTGCGA	0.667		NA											8	8					0	0	0	0
RNMTL1	55178	broad.mit.edu	37	17	685930	685930	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685930G>T	uc002frw.2	+	1	418	c.312G>T	c.(310-312)CTG>CTT	p.L104L	GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	104					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACAGGAGGCTGAGGTGATGTG	0.572		NA											6	6					0.00116845	0.00120075	1	0
MED11	400569	broad.mit.edu	37	17	4636382	4636382	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:4636382C>G	uc002fyp.2	+	3	316	c.254C>G	c.(253-255)TCT>TGT	p.S85C		NM_001001683	NP_001001683	Q9P086	MED11_HUMAN	mediator complex subunit 11	85					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding				0						TCCAGCTACTCTTCGAGGAAG	0.552		NA											35	19					0	0	0	0
EIF4A1	1973	broad.mit.edu	37	17	7481674	7481674	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:7481674G>C	uc002gho.1	+	19	2416	c.1091G>C	c.(1090-1092)GGA>GCA	p.G364A	EIF4A1_uc002ghr.1_Missense_Mutation_p.W343C|EIF4A1_uc002ghq.1_Missense_Mutation_p.W337C|EIF4A1_uc002ghp.1_Missense_Mutation_p.G364A|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	364	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						GGTCGAGGTGGACGGTTTGGC	0.507		NA											4	102					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8379172	8379172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8379172C>G	uc002gll.2	-	41	5977	c.5881G>C	c.(5881-5883)GAA>CAA	p.E1961Q	MYH10_uc002glm.2_Missense_Mutation_p.E1992Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1970Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1961	Potential.				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						GTCTTACTTTCTGTGTCATCG	0.582		NA											88	61					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8393817	8393817	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8393817C>G	uc002gll.2	-	33	4728	c.4632G>C	c.(4630-4632)ATG>ATC	p.M1544I	MYH10_uc002glm.2_Missense_Mutation_p.M1575I|MYH10_uc010cnx.2_Missense_Mutation_p.M1553I	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1544	Potential.				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						GCTGGGTCCTCATTTCCTCCA	0.557		NA											36	32					0	0	0	0
FLOT2	2319	broad.mit.edu	37	17	27208935	27208935	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:27208935C>G	uc002hdc.2	-	8	934	c.811G>C	c.(811-813)GAG>CAG	p.E271Q		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	271					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCCTGTGCCTCCACGGCAATC	0.612		NA											21	43					0	0	0	0
EFCAB5	374786	broad.mit.edu	37	17	28361326	28361326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:28361326G>T	uc002het.2	+	8	1315	c.1123G>T	c.(1123-1125)GAA>TAA	p.E375*	EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E118*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.E319*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.E32*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.E254*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.E254*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	375							calcium ion binding			ovary(1)|skin(1)	2						CTCTGCAGATGAATTTCGGGA	0.413		NA											12	38					3.07e-06	3.22e-06	1	0
ATAD5	79915	broad.mit.edu	37	17	29185216	29185216	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:29185216G>C	uc002hfs.1	+	9	3177	c.2831G>C	c.(2830-2832)AGA>ACA	p.R944T	ATAD5_uc002hft.1_Missense_Mutation_p.R841T	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	944					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAGTAAGAAATCTTTTG	0.303		NA											24	34					0	0	0	0
CACNB1	782	broad.mit.edu	37	17	37340341	37340341	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:37340341G>C	uc002hrm.1	-	10	994	c.841C>G	c.(841-843)CTC>GTC	p.L281V	CACNB1_uc002hrl.1_Missense_Mutation_p.L53V|CACNB1_uc002hrn.2_Missense_Mutation_p.L281V|CACNB1_uc002hro.2_Missense_Mutation_p.L326V	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	281					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGGTTGTTGAGAACTGAGCGC	0.582		NA											22	36					0	0	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38347604	38347604	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:38347604G>A	uc010cwu.1	+	9	1244	c.754G>A	c.(754-756)GGC>AGC	p.G252S	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.G188S	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	458	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CGGGGAGCGCGGCCGCCGGGA	0.711		NA											9	9					0	0	0	0
KRT38	8687	broad.mit.edu	37	17	39595601	39595601	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39595601C>T	uc002hwq.1	-	3	1009	c.586G>A	c.(586-588)GAG>AAG	p.E196K		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	196	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				AGGGAGCGCTCACTCTCCAGC	0.622		NA											22	46					0	0	0	0
KRT17	3872	broad.mit.edu	37	17	39780615	39780615	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39780615G>A	uc002hxh.2	-	1	268	c.147C>T	c.(145-147)GGC>GGT	p.G49G	JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Silent_p.G49G	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	49	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CGAGGGTGCTGCCCAGGCCGC	0.701		NA							Steatocystoma_Multiplex				12	18					0	0	0	0
FAM134C	162427	broad.mit.edu	37	17	40733894	40733894	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40733894G>C	uc002ial.2	-	9	1441	c.1338C>G	c.(1336-1338)GAC>GAG	p.D446E	FAM134C_uc010wgq.1_Missense_Mutation_p.D246E|FAM134C_uc002iam.1_Missense_Mutation_p.D246E|FAM134C_uc010cyk.1_Missense_Mutation_p.D349E	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	446						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GAAGTTCAAAGTCATCCCCCT	0.587		NA											22	32					0	0	0	0
FAM134C	162427	broad.mit.edu	37	17	40734073	40734073	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40734073G>A	uc002ial.2	-	9	1262	c.1159C>T	c.(1159-1161)CTT>TTT	p.L387F	FAM134C_uc010wgq.1_Missense_Mutation_p.L187F|FAM134C_uc002iam.1_Missense_Mutation_p.L187F|FAM134C_uc010cyk.1_Missense_Mutation_p.L290F	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	387						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CCTACAGGAAGAGCACCAAGC	0.657		NA											35	55					0	0	0	0
NAGS	162417	broad.mit.edu	37	17	42084746	42084746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42084746C>G	uc002ies.2	+	5	1152	c.1152C>G	c.(1150-1152)GAC>GAG	p.D384E	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.D384E|NAGS_uc002iet.2_Missense_Mutation_p.D8E	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	384	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity				0		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCAGCCTGGACAAGCTGGACC	0.662		NA									OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	32					0	0	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338013	42338013	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42338013G>C	uc002igf.3	-	5	488	c.339C>G	c.(337-339)GTC>GTG	p.V113V	SLC4A1_uc002igg.3_Silent_p.V113V	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	113	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGGTGAAGACTCTACGCA	0.642		NA											23	28					0	0	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246753	43246753	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:43246753C>A	uc002iih.1	+	4	677	c.438C>A	c.(436-438)TTC>TTA	p.F146L	HEXIM2_uc010daf.1_Missense_Mutation_p.F168L|HEXIM2_uc002iii.1_Missense_Mutation_p.F146L|HEXIM2_uc002iij.1_Missense_Mutation_p.F146L|uc002iik.1_RNA	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	146					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding				0						CCACCCAGTTCCTGATGAATG	0.632		NA											18	29					2.39e-15	2.61e-15	1	0
KIAA1267	284058	broad.mit.edu	37	17	44248690	44248690	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:44248690G>C	uc002ikb.2	-	1	905	c.820C>G	c.(820-822)CTT>GTT	p.L274V	KIAA1267_uc002ikc.2_Missense_Mutation_p.L274V|KIAA1267_uc002ikd.2_Missense_Mutation_p.L274V|KIAA1267_uc010dav.2_Missense_Mutation_p.L274V	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	274						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GCACTGAAAAGAATGGAAGAC	0.483		NA											20	76					0	0	0	0
TTLL6	284076	broad.mit.edu	37	17	46862508	46862508	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:46862508C>G	uc010wlo.1	-	14	1852	c.1817G>C	c.(1816-1818)AGA>ACA	p.R606T	TTLL6_uc002iob.2_Missense_Mutation_p.R299T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.R359T|TTLL6_uc002iod.2_Missense_Mutation_p.R453T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	558						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						CCTTTCACCTCTGACACTCAA	0.527		NA											37	63					0	0	0	0
SNF8	11267	broad.mit.edu	37	17	47022055	47022055	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:47022055C>G	uc002ioj.2	-	1	100	c.42G>C	c.(40-42)AAG>AAC	p.K14N	SNF8_uc002iok.2_Missense_Mutation_p.K14N	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	14					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding				0						CTGCAAGTTTCTTCTTGGCGA	0.522		NA											86	128					0	0	0	0
SPAG9	9043	broad.mit.edu	37	17	49054546	49054546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:49054546G>C	uc002itc.2	-	27	3655	c.3446C>G	c.(3445-3447)ACA>AGA	p.T1149R	SPAG9_uc002itb.2_Missense_Mutation_p.T1135R|SPAG9_uc002itd.2_Missense_Mutation_p.T1139R|SPAG9_uc002ita.2_Missense_Mutation_p.T992R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1149					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATAAGAGCTGTAATTCTCAC	0.388		NA											55	82					0	0	0	0
TEX2	55852	broad.mit.edu	37	17	62290455	62290455	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:62290455C>T	uc002jec.2	-	2	1296	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K	TEX2_uc002jed.2_Missense_Mutation_p.E375K|TEX2_uc002jee.2_Missense_Mutation_p.E375K	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	375					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTGTGGGCTCACCAGTGGAC	0.483		NA											41	109					0	0	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66524033	66524033	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:66524033C>G	uc002jhg.2	+	8	941	c.761C>G	c.(760-762)TCT>TGT	p.S254C	PRKAR1A_uc002jhh.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhi.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhj.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhk.2_Missense_Mutation_p.S130C|PRKAR1A_uc002jhl.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhm.2_Missense_Mutation_p.S254C	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	254	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					AGTAAAGTCTCTATTTTAGGT	0.353		NA	T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of				29	77					0	0	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281968	71281968	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71281968G>A	uc002jjn.2	-	2	819	c.672C>T	c.(670-672)ATC>ATT	p.I224I	CDC42EP4_uc002jjo.2_Silent_p.I224I|CDC42EP4_uc002jjp.1_Silent_p.I154I	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	224					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTGTCCATGATGCTGAGGA	0.657		NA											25	72					0	0	0	0
SDK2	54549	broad.mit.edu	37	17	71364591	71364591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71364591C>T	uc010dfm.2	-	37	5122	c.5122G>A	c.(5122-5124)GAT>AAT	p.D1708N	SDK2_uc002jjt.3_Missense_Mutation_p.D848N|SDK2_uc010dfn.2_Missense_Mutation_p.D1387N	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1708	Fibronectin type-III 11.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						CGAGGCCCATCCCCAGCGGCG	0.647		NA											3	21					0	0	0	0
SDK2	54549	broad.mit.edu	37	17	71415334	71415334	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71415334C>G	uc010dfm.2	-	16	2157	c.2157G>C	c.(2155-2157)CAG>CAC	p.Q719H	SDK2_uc010dfn.2_Missense_Mutation_p.Q398H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	719	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to membrane				ovary(2)	2						GAATTCCATTCTGGTGGCTCT	0.617		NA											7	17					0	0	0	0
NT5C	30833	broad.mit.edu	37	17	73127368	73127368	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73127368C>T	uc002jmx.2	-	2	258	c.183G>A	c.(181-183)GTG>GTA	p.V61V	NT5C_uc002jmy.2_RNA	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	5',3'-nucleotidase, cytosolic	61					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding				0	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			ACACACTGGCCACTTTATCCT	0.652		NA											7	21					0	0	0	0
LLGL2	3993	broad.mit.edu	37	17	73569168	73569168	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73569168G>A	uc002joh.2	+	20	2688	c.2534G>A	c.(2533-2535)CGG>CAG	p.R845Q	LLGL2_uc002joi.2_Missense_Mutation_p.R845Q|LLGL2_uc010dgg.1_Missense_Mutation_p.R845Q|LLGL2_uc002joj.2_Missense_Mutation_p.R834Q|LLGL2_uc010wsd.1_Missense_Mutation_p.R472Q	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	845	WD 13.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAGTGCGGCGGGTCAGCGTG	0.647		NA											30	19					0	0	0	0
ITGB4	3691	broad.mit.edu	37	17	73736024	73736024	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73736024A>G	uc002jpg.2	+	20	2505	c.2318A>G	c.(2317-2319)CAC>CGC	p.H773R	ITGB4_uc002jph.2_Missense_Mutation_p.H773R|ITGB4_uc010dgo.2_Missense_Mutation_p.H773R|ITGB4_uc002jpi.3_Missense_Mutation_p.H773R|ITGB4_uc010dgp.1_Missense_Mutation_p.H773R|ITGB4_uc002jpj.2_Missense_Mutation_p.H773R	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	773	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCTGACCACTTGGACACG	0.612		NA											13	57					0	0	0	0
EVPL	2125	broad.mit.edu	37	17	74006418	74006418	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:74006418C>T	uc002jqi.2	-	22	3096	c.2868G>A	c.(2866-2868)GAG>GAA	p.E956E	EVPL_uc010wss.1_Silent_p.E978E|EVPL_uc010wst.1_Silent_p.E426E	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	956	Central fibrous rod domain.|Potential.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCACTTCCTTCTCCTCCAGCC	0.682		NA											16	55					0	0	0	0
CYTH1	9267	broad.mit.edu	37	17	76694965	76694965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:76694965C>G	uc002jvw.2	-	8	707	c.636G>C	c.(634-636)GAG>GAC	p.E212D	CYTH1_uc010wtw.1_Missense_Mutation_p.E153D|CYTH1_uc010wtx.1_Missense_Mutation_p.E153D	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	212					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CAATGAACCTCTCCACAGTGG	0.483		NA											122	344					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78348306	78348306	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:78348306G>A	uc002jyh.1	+	25	7433	c.7210G>A	c.(7210-7212)GGC>AGC	p.G2404S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G786S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGGTGTACGGCGATGAATA	0.562		NA											22	69					0	0	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954344	79954344	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:79954344G>C	uc002kcx.2	+	7	652	c.555G>C	c.(553-555)CTG>CTC	p.L185L	ASPSCR1_uc002kcw.1_Silent_p.L185L|ASPSCR1_uc002kcy.2_Silent_p.L185L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Silent_p.L108L|ASPSCR1_uc002kdb.1_Silent_p.L108L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	185							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGAAGCCTGGGCTCGTCAG	0.667		NA	T	TFE3	alveolar soft part sarcoma								8	36					0	0	0	0
SMCHD1	23347	broad.mit.edu	37	18	2700762	2700762	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2700762G>C	uc002klm.3	+	12	1682	c.1493G>C	c.(1492-1494)AGA>ACA	p.R498T	SMCHD1_uc002klk.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	498					chromosome organization		ATP binding				0						CCTAAGAAGAGAGGGCTTGCA	0.338		NA											24	31					0	0	0	0
SMCHD1	23347	broad.mit.edu	37	18	2724980	2724980	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2724980C>A	uc002klm.3	+	21	2876	c.2687C>A	c.(2686-2688)TCT>TAT	p.S896Y	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	896					chromosome organization		ATP binding				0						CCTGTAAACTCTTGTCAAGGC	0.323		NA											10	10					0.000673444	0.000693706	1	0
ABHD3	171586	broad.mit.edu	37	18	19237110	19237110	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:19237110G>A	uc002ktl.2	-	7	986	c.846C>T	c.(844-846)CAC>CAT	p.H282H	ABHD3_uc002ktm.2_Silent_p.H229H|ABHD3_uc002ktk.2_Silent_p.H87H|ABHD3_uc002ktn.2_Silent_p.H59H	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	282						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						ACATATGTCGGTGCCTGGAAC	0.299		NA											7	16					0	0	0	0
TTC39C	125488	broad.mit.edu	37	18	21705475	21705475	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:21705475C>G	uc002kuw.2	+	10	1833	c.1381C>G	c.(1381-1383)CCA>GCA	p.P461A	TTC39C_uc002kuu.2_Missense_Mutation_p.P400A	NM_001135993	NP_001129465	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C isoform 1	461							binding			ovary(1)	1						GAAAGCTCTTCCAAACTGTTC	0.463		NA											25	40					0	0	0	0
ASXL3	80816	broad.mit.edu	37	18	31314318	31314318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:31314318G>T	uc010dmg.1	+	10	1076	c.1021G>T	c.(1021-1023)GAG>TAG	p.E341*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.E48*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GCAAGAAATTGAGAAGGAAAA	0.323		NA											8	21					9.7e-10	1.04e-09	1	0
ONECUT2	9480	broad.mit.edu	37	18	55103474	55103474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:55103474C>T	uc002lgo.2	+	1	558	c.526C>T	c.(526-528)CCG>TCG	p.P176S		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	176	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		gcaccaccatccgcaccacca	0.478		NA											6	5					0	0	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895656	59895656	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:59895656G>A	uc002lil.2	+	8	1488	c.1273G>A	c.(1273-1275)GTA>ATA	p.V425I	KIAA1468_uc002lik.1_Missense_Mutation_p.V425I|KIAA1468_uc010xel.1_Missense_Mutation_p.V425I|KIAA1468_uc002lim.2_Missense_Mutation_p.V69I	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	425							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GCATCCAGATGTAAATAGTTC	0.428		NA											26	50					0	0	0	0
PHLPP1	23239	broad.mit.edu	37	18	60642700	60642700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642700G>C	uc002lis.2	+	17	2468	c.2290G>C	c.(2290-2292)GAT>CAT	p.D764H		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1276	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						TGACCCTGTGGATCCAGGAGG	0.522		NA											64	97					0	0	0	0
PHLPP1	23239	broad.mit.edu	37	18	60642822	60642822	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642822G>A	uc002lis.2	+	17	2590	c.2412G>A	c.(2410-2412)CTG>CTA	p.L804L		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1316	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						AAGAAGAGCTGAAGAGGATTA	0.443		NA											51	87					0	0	0	0
VPS4B	9525	broad.mit.edu	37	18	61064456	61064456	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:61064456C>T	uc002lix.2	-	9	1163	c.903G>A	c.(901-903)CCG>CCA	p.P301P	VPS4B_uc010dpx.2_Silent_p.P301P|VPS4B_uc010dpy.2_Silent_p.P183P|VPS4B_uc010dpz.1_Silent_p.P183P	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	301					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						CATGGGGTTCCGGCAAGGGAA	0.393		NA											6	58					0	0	0	0
ZNF407	55628	broad.mit.edu	37	18	72344264	72344264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:72344264G>A	uc002llw.2	+	1	1346	c.1289G>A	c.(1288-1290)CGA>CAA	p.R430Q	ZNF407_uc010xfc.1_Missense_Mutation_p.R430Q|ZNF407_uc010dqu.1_Missense_Mutation_p.R430Q|ZNF407_uc002llu.2_Missense_Mutation_p.R429Q	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTTCGTCGACGAAGCAGCACT	0.428		NA											44	52					0	0	0	0
POLRMT	5442	broad.mit.edu	37	19	619625	619625	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:619625C>A	uc002lpf.1	-	13	3083	c.3027G>T	c.(3025-3027)CAG>CAT	p.Q1009H		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1009	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTCAATCTGCAGGCGCC	0.612		NA											27	51					7.76e-22	8.6e-22	1	0
CNN2	1265	broad.mit.edu	37	19	1032417	1032417	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1032417C>G	uc002lqu.2	+	3	575	c.212C>G	c.(211-213)TCC>TGC	p.S71C	CNN2_uc002lqt.1_Missense_Mutation_p.S71C|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.S71C|CNN2_uc010xgb.1_Missense_Mutation_p.S71C|CNN2_uc010xgc.1_Missense_Mutation_p.S71C	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	71	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGGGCTCCGTCCCCAAG	0.622		NA											40	67					0	0	0	0
REXO1	57455	broad.mit.edu	37	19	1828053	1828053	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1828053G>A	uc002lua.3	-	2	830	c.735C>T	c.(733-735)CTC>CTT	p.L245L	REXO1_uc010dsr.1_Silent_p.L199L	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	245						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCCTGCTGAGGTGCCGGG	0.677		NA											23	43					0	0	0	0
SGTA	6449	broad.mit.edu	37	19	2759262	2759262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2759262G>A	uc002lwi.1	-	9	877	c.730C>T	c.(730-732)CAG>TAG	p.Q244*		NM_003021	NP_003012	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide	244					interspecies interaction between organisms	cytoplasm	protein binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAGCTGCTGAATCTGGGGA	0.328		NA											62	145					0	0	0	0
ZNF555	148254	broad.mit.edu	37	19	2851477	2851477	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2851477C>G	uc002lwo.2	+	3	231	c.142C>G	c.(142-144)CAA>GAA	p.Q48E	ZNF555_uc002lwn.3_Missense_Mutation_p.Q48E	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGAAACTCAATTTAAGGC	0.393		NA											18	25					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9066076	9066076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:9066076G>A	uc002mkp.2	-	3	21574	c.21370C>T	c.(21370-21372)CTT>TTT	p.L7124F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7126	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCACAGGAAGAGGAGAGGAG	0.517		NA											35	89					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10104345	10104345	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:10104345C>T	uc002mmq.1	-	18	1731	c.1645G>A	c.(1645-1647)GAT>AAT	p.D549N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	549	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			AAGCCACGATCACCCTGTCCA	0.587		NA											18	47					0	0	0	0
RGL3	57139	broad.mit.edu	37	19	11517470	11517470	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11517470G>A	uc002mrp.2	-	6	772	c.708C>T	c.(706-708)CTC>CTT	p.L236L	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.L236L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	236					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CTTGAGGCATGAGCCCTTCCT	0.557		NA											22	34					0	0	0	0
ECSIT	51295	broad.mit.edu	37	19	11618651	11618651	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11618651C>T	uc002msb.2	-	6	945	c.811G>A	c.(811-813)GAT>AAT	p.D271N	ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Intron|ECSIT_uc010dyd.2_Intron|ECSIT_uc010xma.1_Missense_Mutation_p.D57N	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	271					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						GCCTGCTGATCGGGACTCTGG	0.632		NA											14	30					0	0	0	0
ZNF69	7620	broad.mit.edu	37	19	11998761	11998761	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11998761G>T	uc002mst.3	+	1	92	c.23G>T	c.(22-24)AGG>ATG	p.R8M		NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN	zinc finger protein 69	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				Lung(535;0.011)		AGTCACAGGAGGTGTAGAGAG	0.637		NA											15	41					4.75e-09	5.07e-09	1	0
ZNF700	90592	broad.mit.edu	37	19	12060754	12060754	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:12060754G>A	uc002msu.2	+	4	2041	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K	ZNF700_uc010xme.1_Missense_Mutation_p.E657K|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	639	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCAGATGCATGAAAGGACTCA	0.423		NA											32	62					0	0	0	0
PRKACA	5566	broad.mit.edu	37	19	14203941	14203941	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14203941C>G	uc002myc.2	-	10	1239	c.1039G>C	c.(1039-1041)GAG>CAG	p.E347Q	SAMD1_uc010xnl.1_5'Flank|PRKACA_uc002myb.2_Missense_Mutation_p.E339Q	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	347	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1						TCAGAAAACTCCTTGCCACAC	0.453		NA											12	21					0	0	0	0
TECR	9524	broad.mit.edu	37	19	14676041	14676041	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14676041C>T	uc002mza.2	+	11	819	c.692C>T	c.(691-693)CCC>CTC	p.P231L	TECR_uc002mzb.2_Missense_Mutation_p.P246L|TECR_uc010xns.1_Missense_Mutation_p.P76L|TECR_uc002mzc.2_Missense_Mutation_p.P76L|TECR_uc002mzd.2_Missense_Mutation_p.P261L|TECR_uc002mze.2_Missense_Mutation_p.P57L|TECR_uc002mzf.1_Missense_Mutation_p.P45L	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	231					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						ATCCCATACCCCACCAAGAAC	0.637		NA											39	60					0	0	0	0
SYDE1	85360	broad.mit.edu	37	19	15224468	15224468	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15224468G>A	uc002nah.1	+	8	1933	c.1902G>A	c.(1900-1902)GTG>GTA	p.V634V	SYDE1_uc002nai.1_Silent_p.V567V|SYDE1_uc002naj.1_Silent_p.V291V	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	634					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CCGAAGTGGTGACTCGGCCCC	0.697		NA											38	81					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15292503	15292503	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15292503C>G	uc002nan.2	-	17	2752	c.2676G>C	c.(2674-2676)CTG>CTC	p.L892L	NOTCH3_uc002nao.1_Silent_p.L840L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	892	Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).				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)			AGGGGTTGCTCAGGCACTCAT	0.677		NA											3	1					0	0	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586745	15586745	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15586745C>T	uc002nbf.3	-	2	869	c.736G>A	c.(736-738)GAG>AAG	p.E246K	PGLYRP2_uc002nbg.3_Missense_Mutation_p.E246K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	246					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						CAGCAGCCCTCAGTTCCCAGG	0.617		NA											22	40					0	0	0	0
SLC27A1	376497	broad.mit.edu	37	19	17608070	17608070	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17608070C>G	uc002ngu.1	+	7	1053	c.1003C>G	c.(1003-1005)CAG>GAG	p.Q335E	SLC27A1_uc002ngt.1_Missense_Mutation_p.Q67E|SLC27A1_uc010xpp.1_Missense_Mutation_p.Q156E|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	335	Sufficient for oligomerization (By similarity).|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						CCAGGTGGTTCAGTACATCGG	0.711		NA											10	19					0	0	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918980	17918980	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17918980C>T	uc002nhk.1	+	2	449	c.364C>T	c.(364-366)CGC>TGC	p.R122C	B3GNT3_uc002nhl.1_Missense_Mutation_p.R122C|B3GNT3_uc010ebd.1_Missense_Mutation_p.R122C|B3GNT3_uc010ebe.1_Missense_Mutation_p.R122C	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	122	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						CAACTATGTGCGCCGCGAGCT	0.677		NA											3	24					0	0	0	0
UPF1	5976	broad.mit.edu	37	19	18956861	18956861	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18956861G>A	uc002nkg.2	+	2	579	c.304G>A	c.(304-306)GAG>AAG	p.E102K	UPF1_uc002nkf.2_Missense_Mutation_p.E102K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	102	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTTGTTGGCTGAGTTGAACTT	0.577		NA											23	26					0	0	0	0
UPF1	5976	broad.mit.edu	37	19	18967806	18967806	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18967806C>A	uc002nkg.2	+	14	2253	c.1978C>A	c.(1978-1980)CCC>ACC	p.P660T	UPF1_uc002nkf.2_Missense_Mutation_p.P649T|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	660					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTGCATGGTTCCCGTGGTCCT	0.582		NA											39	63					2.55e-27	2.84e-27	1	0
ZNF99	7652	broad.mit.edu	37	19	22940553	22940553	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22940553G>C	uc010xrh.1	-	5	1885	c.1885C>G	c.(1885-1887)CTT>GTT	p.L629V		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGAGTTGAGGAC	0.363		NA											24	49					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22952052	22952052	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22952052C>A	uc010xrh.1	-	2	141	c.141G>T	c.(139-141)CAG>CAT	p.Q47H		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATAAATTCTGCTGAGCCA	0.383		NA											41	74					5.45e-19	6.01e-19	1	0
DPY19L3	147991	broad.mit.edu	37	19	32949405	32949405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:32949405C>T	uc002ntg.2	+	12	1488	c.1312C>T	c.(1312-1314)CAT>TAT	p.H438Y	DPY19L3_uc002nth.1_Missense_Mutation_p.H438Y|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	438						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					TGTTGCCTTTCATAATCTCAG	0.348		NA											81	117					0	0	0	0
PDCD2L	84306	broad.mit.edu	37	19	34904736	34904736	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:34904736C>G	uc002nvj.2	+	5	814	c.781C>G	c.(781-783)CAG>GAG	p.Q261E		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	261						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCTGCTTGTCAGGAGCAGAT	0.328		NA											11	31					0	0	0	0
LRFN3	79414	broad.mit.edu	37	19	36431159	36431159	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:36431159C>T	uc002oco.2	+	2	1284	c.832C>T	c.(832-834)CTG>TTG	p.L278L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	278	LRRCT.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCACCTGCTCTGGGCGGCCG	0.711		NA											8	17					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	38976417	38976417	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:38976417G>A	uc002oit.2	+	34	5252	c.5122G>A	c.(5122-5124)GCA>ACA	p.A1708T	RYR1_uc002oiu.2_Missense_Mutation_p.A1708T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1708	Cytoplasmic.|6 X approximate repeats.				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)	CCCACTGCGCGCAGGCTACTA	0.647		NA											25	44					0	0	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915437	39915437	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39915437G>C	uc010xuz.1	+	19	3989	c.3664G>C	c.(3664-3666)GAC>CAC	p.D1222H	PLEKHG2_uc010xuy.1_Missense_Mutation_p.D1163H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.D1000H	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1222					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCTCTCTAGACATTCAGGG	0.532		NA											83	163					0	0	0	0
SUPT5H	6829	broad.mit.edu	37	19	39962116	39962116	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39962116C>T	uc002olo.3	+	19	1976	c.1797C>T	c.(1795-1797)ATC>ATT	p.I599I	SUPT5H_uc002olp.3_Silent_p.I599I|SUPT5H_uc002olq.3_Silent_p.I595I|SUPT5H_uc002oln.3_Silent_p.I599I|SUPT5H_uc002olr.3_Silent_p.I599I|SUPT5H_uc002ols.1_Silent_p.I222I|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	599	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAAAGACATCGTTAAGGTCA	0.512		NA											29	51					0	0	0	0
SPTBN4	57731	broad.mit.edu	37	19	40996095	40996095	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:40996095C>G	uc002ony.2	+	4	521	c.435C>G	c.(433-435)ATC>ATG	p.I145M	SPTBN4_uc002onx.2_Missense_Mutation_p.I145M|SPTBN4_uc002onz.2_Missense_Mutation_p.I145M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	145	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCATGACATCGTGGATGGGA	0.637		NA											26	35					0	0	0	0
EXOSC5	56915	broad.mit.edu	37	19	41895711	41895711	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:41895711C>G	uc002oqo.2	-	4	507	c.484G>C	c.(484-486)GAT>CAT	p.D162H	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	162					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding				0						AGGGTCCCATCAGAGTCCAGG	0.617		NA											49	73					0	0	0	0
GRIK5	2901	broad.mit.edu	37	19	42558072	42558072	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42558072C>G	uc002osj.1	-	9	1101	c.1066G>C	c.(1066-1068)GAT>CAT	p.D356H	GRIK5_uc010eib.1_Missense_Mutation_p.D275H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	356	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCAGCCCATCATACTCTACC	0.617		NA											12	17					0	0	0	0
TMEM145	284339	broad.mit.edu	37	19	42827884	42827884	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42827884C>T	uc002otk.1	+	14	1396	c.1344C>T	c.(1342-1344)ATC>ATT	p.I448I	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	448						integral to membrane					0		Prostate(69;0.00682)				TGACGTTTATCAGCGACTCGG	0.682		NA											26	47					0	0	0	0
PVR	5817	broad.mit.edu	37	19	45161157	45161157	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:45161157G>A	uc002ozm.2	+	5	1269	c.970G>A	c.(970-972)GAA>AAA	p.E324K	PVR_uc010ejs.2_Missense_Mutation_p.E324K|PVR_uc010xxb.1_Missense_Mutation_p.E324K|PVR_uc010xxc.1_Missense_Mutation_p.E324K|PVR_uc002ozn.2_Missense_Mutation_p.E269K	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	324	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGCCAGGCAGAACTGACCGT	0.572		NA									OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	25					0	0	0	0
HIF3A	64344	broad.mit.edu	37	19	46800352	46800352	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:46800352C>G	uc002peh.2	+	1	48	c.19C>G	c.(19-21)CGC>GGC	p.R7G	HIF3A_uc002pef.1_Missense_Mutation_p.R7G|HIF3A_uc002peg.3_Missense_Mutation_p.R7G|HIF3A_uc010xxx.1_5'Flank|HIF3A_uc002pei.3_5'Flank|HIF3A_uc002pej.1_5'Flank|HIF3A_uc002pek.2_5'Flank|HIF3A_uc010xxy.1_5'Flank	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGGGCTGCAGCGCGCAAGGTA	0.716		NA											17	29					0	0	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597670	47597670	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47597670C>T	uc002pga.3	-	3	395	c.357G>A	c.(355-357)AAG>AAA	p.K119K	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	119	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCTTCTTCGACCTCC	0.562		NA											137	280					0	0	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960796	47960796	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47960796C>A	uc002pgx.2	-	3	1009	c.731G>T	c.(730-732)TGG>TTG	p.W244L	SLC8A2_uc010xyq.1_5'UTR|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.W244L	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	244	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTCGGCCATCCAGGCGAATAC	0.677		NA											24	35					5.62e-17	6.16e-17	1	0
TULP2	7288	broad.mit.edu	37	19	49391429	49391429	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49391429C>A	uc002pkz.2	-	8	877	c.726G>T	c.(724-726)CTG>CTT	p.L242L		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	242					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCTCGCCTTTCAGGGCCTTGG	0.592		NA											35	39					7.53e-24	8.37e-24	1	0
LIN7B	64130	broad.mit.edu	37	19	49621200	49621200	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49621200G>A	uc002pmp.2	+	5	571	c.527G>A	c.(526-528)CGA>CAA	p.R176Q	PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B	176					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding				0		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TACACACCGCGAGTGCTGGAG	0.657		NA											34	78					0	0	0	0
HRC	3270	broad.mit.edu	37	19	49657828	49657828	+	Missense_Mutation	SNP	C	C	G	rs139799783		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657828C>G	uc002pmv.2	-	1	854	c.667G>C	c.(667-669)GAG>CAG	p.E223Q		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	223	4 X tandem repeats, acidic.|2-4.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCATCCTCTTCACTCCCA	0.363		NA											14	36					0	0	0	0
AP2A1	160	broad.mit.edu	37	19	50285913	50285913	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50285913C>T	uc002ppn.2	+	4	616	c.405C>T	c.(403-405)ATC>ATT	p.I135I	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Silent_p.I135I	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	135					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCACTGCATCGCCAACGTGG	0.647		NA											6	20					0	0	0	0
VRK3	51231	broad.mit.edu	37	19	50510833	50510833	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50510833G>C	uc002prg.2	-	5	638	c.540C>G	c.(538-540)CTC>CTG	p.L180L	VRK3_uc002prh.1_Silent_p.L180L|VRK3_uc002pri.1_Silent_p.L130L|VRK3_uc010ens.2_Silent_p.L180L|VRK3_uc010ybl.1_Silent_p.L130L|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Silent_p.L130L|VRK3_uc002prk.1_Silent_p.L180L|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Silent_p.L180L|VRK3_uc010ybn.1_Silent_p.L180L	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	180	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TACCTTCATAGAGAATGCCCT	0.582		NA											24	74					0	0	0	0
ZNF473	25888	broad.mit.edu	37	19	50542425	50542425	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50542425T>G	uc002prn.2	+	3	254	c.17T>G	c.(16-18)GTG>GGG	p.V6G	ZNF473_uc002prm.2_Missense_Mutation_p.V6G|ZNF473_uc010ybo.1_5'UTR	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	6	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGGAATTTGTGACCCTCAAG	0.577		NA											45	97					0	0	0	0
ZNF432	9668	broad.mit.edu	37	19	52537236	52537236	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:52537236C>G	uc002pyk.2	-	5	2014	c.1696G>C	c.(1696-1698)GAG>CAG	p.E566Q		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAAGATTTCTCTTCTGTATGA	0.398		NA											39	87					0	0	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247444	55247444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:55247444G>A	uc002qgu.1	+	8	1132	c.1114G>A	c.(1114-1116)GAT>AAT	p.D372N	KIR2DL3_uc002qgv.2_Intron|KIR2DL3_uc002qgx.2_5'Flank|KIR2DL3_uc002qgy.2_5'Flank|KIR2DL3_uc010erw.1_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three	372	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.542		NA											64	155					0	0	0	0
SBK2	646643	broad.mit.edu	37	19	56041144	56041144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:56041144C>T	uc010ygc.1	-	3	1003	c.1003G>A	c.(1003-1005)GAG>AAG	p.E335K		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	335							ATP binding|protein serine/threonine kinase activity				0						GCCTCCGCCTCGCCCTCCCGC	0.731		NA											17	23					0	0	0	0
ZNF547	284306	broad.mit.edu	37	19	57888534	57888534	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:57888534G>C	uc002qol.2	+	4	383	c.190G>C	c.(190-192)GAG>CAG	p.E64Q	ZNF547_uc002qpm.3_5'UTR|ZNF547_uc010ygx.1_Missense_Mutation_p.E64Q	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCACCTTTAGAGCCAGGTGT	0.507		NA											22	38					0	0	0	0
ZNF211	10520	broad.mit.edu	37	19	58153116	58153116	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:58153116G>C	uc002qpq.2	+	3	1442	c.1262G>C	c.(1261-1263)GGA>GCA	p.G421A	ZNF211_uc010yhb.1_Missense_Mutation_p.G425A|ZNF211_uc002qpp.2_Missense_Mutation_p.G434A|ZNF211_uc002qpr.2_Missense_Mutation_p.G485A|ZNF211_uc002qps.2_Missense_Mutation_p.G486A|ZNF211_uc002qpt.2_Missense_Mutation_p.G433A|ZNF211_uc010yhc.1_Missense_Mutation_p.G433A|ZNF211_uc010yhd.1_Missense_Mutation_p.G360A|ZNF211_uc010yhe.1_Missense_Mutation_p.G412A	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	421						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCACACTGGAGAAAGACCC	0.478		NA											26	57					0	0	0	0
GEN1	348654	broad.mit.edu	37	2	17946179	17946179	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:17946179G>C	uc002rct.2	+	4	437	c.364G>C	c.(364-366)GAA>CAA	p.E122Q	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E122Q|GEN1_uc002rcu.2_Missense_Mutation_p.E122Q	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	122	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATATGCTCGAATGCTTAGG	0.428		NA						Homologous_recombination					68	27					0	0	0	0
ITSN2	50618	broad.mit.edu	37	2	24522802	24522802	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522802C>G	uc002rfe.2	-	12	1578	c.1320G>C	c.(1318-1320)AGG>AGC	p.R440S	ITSN2_uc002rff.2_Missense_Mutation_p.R440S|ITSN2_uc002rfg.2_Missense_Mutation_p.R440S|ITSN2_uc010eyd.2_Missense_Mutation_p.R465S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	440	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTTTCTCCTTTCTTCCT	0.299		NA											50	18					0	0	0	0
ITSN2	50618	broad.mit.edu	37	2	24522843	24522843	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522843C>G	uc002rfe.2	-	12	1537	c.1279G>C	c.(1279-1281)GAG>CAG	p.E427Q	ITSN2_uc002rff.2_Missense_Mutation_p.E427Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E427Q|ITSN2_uc010eyd.2_Missense_Mutation_p.E452Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	427	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCTTCTCTAAGCGTTTT	0.358		NA											70	25					0	0	0	0
IFT172	26160	broad.mit.edu	37	2	27712512	27712512	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:27712512C>T	uc002rku.2	-	1	60	c.9G>A	c.(7-9)TTG>TTA	p.L3L	IFT172_uc002rkw.2_Silent_p.L3L|IFT172_uc010yls.1_5'UTR|IFT172_uc010ezc.2_Silent_p.L3L|IFT172_uc002rkv.2_Silent_p.L3L|IFT172_uc010ylt.1_Silent_p.L3L	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	3					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TCAGGTGCTTCAAGTGCATGA	0.562		NA											26	12					0	0	0	0
LTBP1	4052	broad.mit.edu	37	2	33488459	33488459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:33488459G>T	uc002ros.2	+	15	2620	c.2620G>T	c.(2620-2622)GAA>TAA	p.E874*	LTBP1_uc002rot.2_Nonsense_Mutation_p.E548*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E547*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E494*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E547*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E494*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	873	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAAGTGACAGGTTGGTGCAG	0.378		NA											32	71					1.63e-12	1.76e-12	1	0
SOS1	6654	broad.mit.edu	37	2	39262376	39262376	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:39262376G>C	uc002rrk.3	-	8	1092	c.1051C>G	c.(1051-1053)CTC>GTC	p.L351V	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.L83V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	351	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AAGTAATGGAGACAGTGGTAA	0.313		NA							Noonan_syndrome				3	13					0	0	0	0
EPCAM	4072	broad.mit.edu	37	2	47596657	47596657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:47596657C>T	uc002rvx.2	+	1	371	c.13C>T	c.(13-15)CAG>TAG	p.Q5*	EPCAM_uc002rvw.2_Intron	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	5					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding			skin(1)	1						GGCGCCCCCGCAGGTCCTCGC	0.463		NA							Lynch_syndrome				8	5					0	0	0	0
KLRAQ1	129285	broad.mit.edu	37	2	48707126	48707126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:48707126C>T	uc002rwm.2	+	13	1474	c.1289C>T	c.(1288-1290)GCT>GTT	p.A430V	KLRAQ1_uc002rwj.2_Missense_Mutation_p.A430V|KLRAQ1_uc002rwl.2_Missense_Mutation_p.A384V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.A430V|KLRAQ1_uc010yok.1_Missense_Mutation_p.A430V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	430										ovary(1)	1						GTTGGTGCTGCTCTGCATGGA	0.403		NA											59	28					0	0	0	0
RTN4	57142	broad.mit.edu	37	2	55253905	55253905	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:55253905C>G	uc002rye.2	-	3	1628	c.1330G>C	c.(1330-1332)GAT>CAT	p.D444H	RTN4_uc002ryd.2_Missense_Mutation_p.D238H|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	444	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						AAAGAAGTATCATCATTACTA	0.398		NA											5	240					0	0	0	0
AAK1	22848	broad.mit.edu	37	2	69732794	69732794	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:69732794C>T	uc002sfp.2	-	16	2681	c.2176G>A	c.(2176-2178)GAG>AAG	p.E726K	AAK1_uc010fdk.2_Missense_Mutation_p.E726K|AAK1_uc010yqm.1_Missense_Mutation_p.E727K	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	726						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						CCAAGCTTCTCGGGATGTTTG	0.488		NA											13	5					0	0	0	0
EXOC6B	23233	broad.mit.edu	37	2	72562091	72562091	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:72562091G>A	uc010fep.2	-	20	2319	c.2181C>T	c.(2179-2181)TTC>TTT	p.F727F		NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	727					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TCAAGTCGATGAAGGCCAACT	0.458		NA											48	33					0	0	0	0
NAT8B	51471	broad.mit.edu	37	2	73928298	73928298	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:73928298G>C	uc002sjk.1	-	2	170	c.135C>G	c.(133-135)CTC>CTG	p.L45L		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	N-acetyltransferase 8B	45	Helical; (Potential).				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity				0						CCCCAAGTAAGAGTATGAGGG	0.632		NA											39	15					0	0	0	0
POLR1A	25885	broad.mit.edu	37	2	86276328	86276328	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:86276328G>C	uc002sqs.2	-	17	2809	c.2430C>G	c.(2428-2430)GTC>GTG	p.V810V	POLR1A_uc010ytb.1_Silent_p.V176V	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	810					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GTTGCCTCTTGACATCTGCCT	0.542		NA											46	30					0	0	0	0
KIAA1310	55683	broad.mit.edu	37	2	97278577	97278577	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97278577G>C	uc002swn.3	-	7	1036	c.890C>G	c.(889-891)TCT>TGT	p.S297C	KIAA1310_uc002swh.3_Missense_Mutation_p.S185C|KIAA1310_uc002swi.3_Missense_Mutation_p.S198C|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.S210C|KIAA1310_uc010fhz.2_Missense_Mutation_p.S91C|KIAA1310_uc002swl.3_Missense_Mutation_p.S198C|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.S91C|KIAA1310_uc002swp.1_Missense_Mutation_p.S198C|KIAA1310_uc002swq.1_Missense_Mutation_p.S69C|KIAA1310_uc010fhy.1_Missense_Mutation_p.S198C	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	297											0						GGACAGCTGAGATTGCCAGAA	0.552		NA											3	1					0	0	0	0
LMAN2L	81562	broad.mit.edu	37	2	97400156	97400156	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97400156C>G	uc002swu.2	-	3	450	c.414G>C	c.(412-414)CGG>CGC	p.R138R	LMAN2L_uc002swv.2_Silent_p.R138R|LMAN2L_uc010yut.1_Missense_Mutation_p.G21A|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.G21A|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.G21A	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	138	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						CTGGCTGCATCCGATCCTTTG	0.498		NA											53	49					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152507244	152507244	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:152507244G>A	uc010fnx.2	-	53	7262	c.7071C>T	c.(7069-7071)TTC>TTT	p.F2357F		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2357	Nebulin 63.				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)		CTGGGCTGGAGAACTTAGTTT	0.458		NA											135	108					0	0	0	0
PRPF40A	55660	broad.mit.edu	37	2	153573906	153573906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:153573906C>T	uc002tyi.2	-	1	16	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Missense_Mutation_p.M16I|PRPF40A_uc010zcd.1_Missense_Mutation_p.M16I|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Missense_Mutation_p.M1I	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	1					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TCCCCGGCCTCATCGTCGGGC	0.642		NA											14	11					0	0	0	0
KCNH7	90134	broad.mit.edu	37	2	163250937	163250937	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:163250937C>T	uc002uch.1	-	12	2884	c.2672G>A	c.(2671-2673)AGA>AAA	p.R891K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	891	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTTCCTTCTTCTTAGTTTACA	0.333		NA											30	19					0	0	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179365828	179365828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179365828C>T	uc002umn.2	+	7	1098	c.700C>T	c.(700-702)CGA>TGA	p.R234*		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	234						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TACACTTCACCGACTCTCCCA	0.388		NA											57	29					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179416824	179416824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179416824G>A	uc010zfg.1	-	284	83323	c.83099C>T	c.(83098-83100)TCA>TTA	p.S27700L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21395L|TTN_uc010zfi.1_Missense_Mutation_p.S21328L|TTN_uc010zfj.1_Missense_Mutation_p.S21203L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28627							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAGTTTGTGAAGTTTCCCG	0.423		NA											67	40					0	0	0	0
COL5A2	1290	broad.mit.edu	37	2	189932835	189932835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:189932835G>C	uc002uqk.2	-	21	1582	c.1307C>G	c.(1306-1308)TCT>TGT	p.S436C	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	436					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTACCTGGAGAGCCCTATTA	0.537		NA											34	29					0	0	0	0
C2orf62	375307	broad.mit.edu	37	2	219229377	219229377	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:219229377G>A	uc002vhr.2	+	7	686	c.657G>A	c.(655-657)CAG>CAA	p.Q219Q	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	219											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCATCCAGGTAGACCATC	0.582		NA											24	11					0	0	0	0
TRIP12	9320	broad.mit.edu	37	2	230643289	230643289	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:230643289T>C	uc002vpw.1	-	35	5108	c.4999A>G	c.(4999-5001)ACC>GCC	p.T1667A	TRIP12_uc002vpx.1_Missense_Mutation_p.T1715A|TRIP12_uc002vpy.1_Missense_Mutation_p.T1397A	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATATACTTGGTCCCTTCTTGG	0.403		NA											30	39					0	0	0	0
ITM2C	81618	broad.mit.edu	37	2	231742261	231742261	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:231742261G>A	uc002vqz.2	+	5	828	c.708G>A	c.(706-708)CGG>CGA	p.R236R	ITM2C_uc002vra.2_Silent_p.R189R|ITM2C_uc002vrb.2_Silent_p.R199R|ITM2C_uc002vrc.2_Silent_p.R125R|ITM2C_uc002vrd.2_Silent_p.R88R	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	236					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCAACGCGGAGGCGTGAGT	0.622		NA											23	26					0	0	0	0
EIF4E2	9470	broad.mit.edu	37	2	233421129	233421129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:233421129G>C	uc002vta.2	+	2	102	c.24G>C	c.(22-24)TTG>TTC	p.L8F	EIF4E2_uc002vtb.1_Missense_Mutation_p.L8F|EIF4E2_uc002vsz.2_Missense_Mutation_p.L8F|EIF4E2_uc010zmi.1_Missense_Mutation_p.L8F	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	8				MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871).	regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CATTCAGTTTGAAAGATGATG	0.413		NA											14	11					0	0	0	0
DEFB126	81623	broad.mit.edu	37	20	126135	126135	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:126135G>C	uc002wcx.2	+	2	156	c.138G>C	c.(136-138)AAG>AAC	p.K46N		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein	46					defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCATGTAAAGAATGGTTGGG	0.403		NA											27	55					0	0	0	0
ATRN	8455	broad.mit.edu	37	20	3553417	3553417	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:3553417C>T	uc002wim.2	+	12	2001	c.1911C>T	c.(1909-1911)CTC>CTT	p.L637L	ATRN_uc002wil.2_Silent_p.L637L	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	637	Extracellular (Potential).|Kelch 6.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GTCTCCTCCTCAGCGACATCC	0.468		NA											40	110					0	0	0	0
POLR3F	10621	broad.mit.edu	37	20	18448199	18448199	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:18448199G>A	uc002wqv.2	+	1	167	c.49G>A	c.(49-51)GAA>AAA	p.E17K	C20orf12_uc002wqr.3_5'Flank|C20orf12_uc002wqs.3_5'Flank|C20orf12_uc002wqq.3_5'Flank|C20orf12_uc010zsa.1_5'Flank|C20orf12_uc002wqu.1_5'Flank|C20orf12_uc010gct.1_5'Flank|POLR3F_uc002wqw.2_RNA|POLR3F_uc002wqx.2_5'UTR	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	DNA-directed RNA polymerase III 39 kDa	17					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding				0						GGATCCGGTCGAAATAGAAAA	0.622		NA											22	40					0	0	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20601168	20601168	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:20601168C>G	uc002wrz.2	-	11	1483	c.1340G>C	c.(1339-1341)AGA>ACA	p.R447T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R151T|RALGAPA2_uc010zsg.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	447					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						AACATCTTTTCTATCTGGCTC	0.393		NA											31	47					0	0	0	0
TP53INP2	58476	broad.mit.edu	37	20	33297096	33297096	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33297096C>G	uc002xau.1	+	4	516	c.181C>G	c.(181-183)CCG>GCG	p.P61A		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	61						nucleus					0						gggccgccctccgcccgcgcc	0.517		NA											7	8					0	0	0	0
MMP24	10893	broad.mit.edu	37	20	33862274	33862274	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33862274G>A	uc002xbu.2	+	9	1803	c.1800G>A	c.(1798-1800)GTG>GTA	p.V600V	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	600	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGCTCCGTGAACGCCGTGG	0.627		NA											37	64					0	0	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155433	35155433	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:35155433G>C	uc002xff.2	+	13	3404	c.2969G>C	c.(2968-2970)TGA>TCA	p.*990S	DLGAP4_uc010zvp.1_Nonstop_Mutation_p.*990S|DLGAP4_uc002xfg.2_Nonstop_Mutation_p.*286S|DLGAP4_uc002xfh.2_Nonstop_Mutation_p.*454S|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Nonstop_Mutation_p.*286S|uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	990					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCAGGCTCTGAGACCATGCA	0.502		NA											20	25					0	0	0	0
SFRS6	6431	broad.mit.edu	37	20	42088733	42088733	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42088733G>C	uc010zwg.1	+	4	612	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	SFRS6_uc002xki.2_Missense_Mutation_p.E19Q|SFRS6_uc002xkk.2_Missense_Mutation_p.E148Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	148	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACGAACAAATGAGGGTGTAAT	0.418		NA											23	51					0	0	0	0
JPH2	57158	broad.mit.edu	37	20	42815224	42815224	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42815224G>C	uc002xli.1	-	1	995	c.122C>G	c.(121-123)TCC>TGC	p.S41C	JPH2_uc002xlj.2_Missense_Mutation_p.S41C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	41	Gly-rich.|Cytoplasmic (Potential).|MORN 2.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGTTCCAGGAGCCAGAGTA	0.617		NA											10	24					0	0	0	0
KCNK15	60598	broad.mit.edu	37	20	43374746	43374746	+	Silent	SNP	G	G	A	rs112757483		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43374746G>A	uc002xmr.2	+	1	259	c.195G>A	c.(193-195)CTG>CTA	p.L65L		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	65						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				TGGAGCGCCTGGCGCTCCAGG	0.697		NA											6	11					0	0	0	0
PABPC1L	80336	broad.mit.edu	37	20	43566728	43566728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43566728G>A	uc010ggv.1	+	13	1754	c.1672G>A	c.(1672-1674)GAT>AAT	p.D558N	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D112N|PABPC1L_uc002xmx.2_Missense_Mutation_p.D112N	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	558	PABC.						nucleotide binding|RNA binding			ovary(1)	1						CCTTATCCATGATGTCCACAC	0.572		NA											21	29					0	0	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44433831	44433831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:44433831C>G	uc002xpk.2	+	9	718	c.650C>G	c.(649-651)TCT>TGT	p.S217C		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	217						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				GTGTTGGGATCTCGAGCCAAC	0.463		NA											96	151					0	0	0	0
STAU1	6780	broad.mit.edu	37	20	47733708	47733708	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:47733708C>G	uc002xud.2	-	12	1998	c.1587G>C	c.(1585-1587)CTG>CTC	p.L529L	STAU1_uc002xua.2_Silent_p.L448L|STAU1_uc002xub.2_Silent_p.L454L|STAU1_uc002xuc.2_Silent_p.L448L|STAU1_uc002xue.2_Silent_p.L448L|STAU1_uc002xuf.2_Silent_p.L454L|STAU1_uc002xug.2_Silent_p.L529L	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	529						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CATGGCTGATCAGAGGTGGCT	0.478		NA											28	32					0	0	0	0
ZNF217	7764	broad.mit.edu	37	20	52198855	52198855	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:52198855G>A	uc002xwq.3	-	1	782	c.511C>T	c.(511-513)CTT>TTT	p.L171F	ZNF217_uc010gij.1_Missense_Mutation_p.L163F	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	171	C2H2-type 3.				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGATTTTTAAGAAACCAAGGC	0.463		NA											64	125					0	0	0	0
ZBP1	81030	broad.mit.edu	37	20	56188387	56188387	+	Splice_Site	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:56188387C>G	uc002xyo.2	-	5	784	c.503_splice	c.e5-1	p.E168_splice	ZBP1_uc010gjm.2_Intron|ZBP1_uc002xyp.2_Splice_Site_p.E93_splice|ZBP1_uc010zzn.1_Intron	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a							cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCAGAATCTTCTGCAAAATAA	0.303		NA											51	74					0	0	0	0
CDH26	60437	broad.mit.edu	37	20	58571732	58571732	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:58571732G>A	uc002ybe.2	+	13	2235	c.1935G>A	c.(1933-1935)AAG>AAA	p.K645K	CDH26_uc002ybf.1_Silent_p.K225K|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Silent_p.K159K|CDH26_uc002ybh.2_Intron|CDH26_uc002ybi.2_Intron	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	645	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGAACCTAAGAGGCATGGAT	0.453		NA											75	125					0	0	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61907878	61907878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61907878G>C	uc002yem.2	+	4	329	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	ARFGAP1_uc011aas.1_Missense_Mutation_p.E20Q|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.E73Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E73Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	73	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					CATTGAGCTTGAGAAGATGAA	0.522		NA											22	31					0	0	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982264	61982264	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61982264A>C	uc002yes.2	-	5	677	c.499T>G	c.(499-501)TTC>GTC	p.F167V	CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.F96V|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	167	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGGGGAAGAAGGTGACGTCG	0.607		NA											33	53					0	0	0	0
MYT1	4661	broad.mit.edu	37	20	62837064	62837064	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:62837064C>G	uc002yii.2	+	6	672	c.308C>G	c.(307-309)TCT>TGT	p.S103C	MYT1_uc002yih.2_Missense_Mutation_p.S103C|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	103					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGACGCCTCTGTTTCGGAT	0.597		NA											6	13					0	0	0	0
RNF160	26046	broad.mit.edu	37	21	30359144	30359144	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:30359144G>C	uc002ymr.2	-	2	305	c.292C>G	c.(292-294)CAA>GAA	p.Q98E	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	52							ligase activity|zinc ion binding				0						TCAGCTCCTTGAATAGCAGGA	0.428		NA											36	61					0	0	0	0
TIAM1	7074	broad.mit.edu	37	21	32492803	32492803	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32492803G>C	uc002yow.1	-	29	5131	c.4659C>G	c.(4657-4659)CTC>CTG	p.L1553L	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.L1493L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1553					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTTGCTTCTTGAGCTGTGCCA	0.597		NA											33	36					0	0	0	0
TIAM1	7074	broad.mit.edu	37	21	32513499	32513499	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513499G>A	uc002yow.1	-	23	4183	c.3711C>T	c.(3709-3711)ATC>ATT	p.I1237I	TIAM1_uc011adk.1_Silent_p.I1237I|TIAM1_uc011adl.1_Silent_p.I1177I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACTCTTCATGGATTTTCTGCA	0.463		NA											28	38					0	0	0	0
TIAM1	7074	broad.mit.edu	37	21	32513759	32513759	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513759G>A	uc002yow.1	-	22	4011	c.3539C>T	c.(3538-3540)TCC>TTC	p.S1180F	TIAM1_uc011adk.1_Missense_Mutation_p.S1180F|TIAM1_uc011adl.1_Missense_Mutation_p.S1120F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1180	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTCCAGCGTGGATGAGTGCTG	0.577		NA											43	91					0	0	0	0
TIAM1	7074	broad.mit.edu	37	21	32589957	32589957	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32589957G>A	uc002yow.1	-	10	2526	c.2054C>T	c.(2053-2055)TCC>TTC	p.S685F	TIAM1_uc011adk.1_Missense_Mutation_p.S685F|TIAM1_uc011adl.1_Missense_Mutation_p.S685F|TIAM1_uc002yox.1_Missense_Mutation_p.S293F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	685					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTTGCTCGCGGATCTGGACAT	0.542		NA											42	75					0	0	0	0
IFNGR2	3460	broad.mit.edu	37	21	34787221	34787221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:34787221C>T	uc002yrp.3	+	2	748	c.100C>T	c.(100-102)CAG>TAG	p.Q34*	IFNGR2_uc002yrq.3_Nonsense_Mutation_p.Q53*|IFNGR2_uc010gma.2_5'UTR|IFNGR2_uc002yrr.3_5'UTR	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	34	Extracellular (Potential).|Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	GCCCGCTCCTCAGCACCCGAA	0.393		NA											15	16					0	0	0	0
UMODL1	89766	broad.mit.edu	37	21	43508453	43508453	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43508453C>G	uc002zaf.1	+	5	653	c.653C>G	c.(652-654)TCA>TGA	p.S218*	UMODL1_uc002zad.1_Nonsense_Mutation_p.S146*|UMODL1_uc002zae.1_Nonsense_Mutation_p.S146*|UMODL1_uc002zag.1_Nonsense_Mutation_p.S218*|UMODL1_uc010gow.1_Nonsense_Mutation_p.S10*|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.S10*	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	218	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CACCTGCACTCAGCCCCTGGG	0.602		NA											21	7					0	0	0	0
UBASH3A	53347	broad.mit.edu	37	21	43852254	43852254	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43852254G>A	uc002zbe.2	+	9	1249	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	UBASH3A_uc002zbf.2_Missense_Mutation_p.E367K|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.E367K	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	405	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						TCGCCACGGGGAGAGAGTGGA	0.567		NA											5	7					0	0	0	0
C21orf70	85395	broad.mit.edu	37	21	46387037	46387037	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:46387037C>A	uc002zgl.2	+	4	459	c.441C>A	c.(439-441)CTC>CTA	p.L147L	C21orf70_uc002zgm.2_Silent_p.L132L	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	147											0				Colorectal(79;0.248)		TGCACCCTCTCAGGGATGCCC	0.677		NA											10	29					0.00136819	0.00140491	1	0
RGL4	266747	broad.mit.edu	37	22	24034855	24034855	+	Splice_Site	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:24034855G>A	uc002zxn.2	+	3	1544	c.374_splice	c.e3-1	p.D125_splice	LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Splice_Site_p.D125_splice|RGL4_uc002zxp.1_Splice_Site|RGL4_uc002zxq.2_Splice_Site	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation						small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						TCCTTTTCCAGATCCTGCTCC	0.547		NA											20	35					0	0	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150055	25150055	+	Silent	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:25150055T>G	uc003abd.1	-	8	1320	c.903A>C	c.(901-903)ACA>ACC	p.T301T	PIWIL3_uc011ajx.1_Silent_p.T192T|PIWIL3_uc011ajy.1_Silent_p.T192T|PIWIL3_uc010gut.1_Silent_p.T301T	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	301	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						CCTGGGCAGATGTTCTCTTTA	0.388		NA											36	73					0	0	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026412	27026412	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:27026412G>A	uc003acz.3	+	6	587	c.552G>A	c.(550-552)CCG>CCA	p.P184P		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	184	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						CTCATGCCCCGACCTTCCAGG	0.597		NA											27	28					0	0	0	0
MYH9	4627	broad.mit.edu	37	22	36684376	36684376	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36684376G>A	uc003apg.2	-	34	5085	c.4854C>T	c.(4852-4854)GAC>GAT	p.D1618D		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1618	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGTCCTTCAGGTCCATCTCCA	0.642		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				17	61					0	0	0	0
EIF3D	8664	broad.mit.edu	37	22	36912642	36912642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36912642C>T	uc003apq.2	-	12	1205	c.1089G>A	c.(1087-1089)TGG>TGA	p.W363*	EIF3D_uc011amr.1_Nonsense_Mutation_p.W190*|EIF3D_uc003apr.2_Nonsense_Mutation_p.W363*|EIF3D_uc011ams.1_Nonsense_Mutation_p.W266*|EIF3D_uc011amt.1_Nonsense_Mutation_p.W314*	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	363						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1						CTCCAAGCTTCCACCTGCGGT	0.512		NA											95	172					0	0	0	0
ELFN2	114794	broad.mit.edu	37	22	37769912	37769912	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:37769912G>C	uc003asq.3	-	3	2449	c.1663C>G	c.(1663-1665)CTC>GTC	p.L555V		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	555	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TCCAGCTTGAGAGCATCGATG	0.627		NA											30	28					0	0	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41253202	41253202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:41253202C>A	uc003azh.2	+	1	109	c.17C>A	c.(16-18)TCA>TAA	p.S6*	XPNPEP3_uc011aox.1_Nonsense_Mutation_p.S6*|XPNPEP3_uc003azi.2_5'UTR|ST13_uc003aze.2_5'Flank|ST13_uc011aow.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	6					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						TGGCTGCTCTCAGCCCCCAAG	0.632		NA											8	4					0.000442599	0.000458092	1	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:42322147G>T	uc003bbl.2	-	2	369	c.325C>A	c.(325-327)CGC>AGC	p.R109S	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.R110S	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	109	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GACGCGCCGCGAAGCCGCCGC	0.602		NA											10	12					6.4e-05	6.68e-05	1	0
MPPED1	758	broad.mit.edu	37	22	43831044	43831044	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:43831044C>G	uc011apv.1	+	3	538	c.315C>G	c.(313-315)ATC>ATG	p.I105M	MPPED1_uc011apw.1_Translation_Start_Site|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.I105M|MPPED1_uc011apz.1_Missense_Mutation_p.I138M	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	105							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGACCCCATCCAGATGCCGT	0.642		NA											49	36					0	0	0	0
PANX2	56666	broad.mit.edu	37	22	50616191	50616191	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:50616191C>G	uc003bjn.3	+	2	1050	c.1050C>G	c.(1048-1050)TTC>TTG	p.F350L	PANX2_uc003bjp.3_Missense_Mutation_p.F216L|PANX2_uc003bjo.3_Missense_Mutation_p.F350L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	350	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCATGTTCTGCAACGAGA	0.587		NA											30	16					0	0	0	0
CRELD1	78987	broad.mit.edu	37	3	9984547	9984547	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:9984547T>C	uc003bug.2	+	8	902	c.784T>C	c.(784-786)TGC>CGC	p.C262R	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.C262R|CRELD1_uc003buh.2_Missense_Mutation_p.C262R|CRELD1_uc003bui.2_Missense_Mutation_p.C262R|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	262	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						TGACCAATTCTGCGTGAACAC	0.448		NA											32	47					0	0	0	0
IRAK2	3656	broad.mit.edu	37	3	10264363	10264363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:10264363C>T	uc003bve.1	+	9	1133	c.1057C>T	c.(1057-1059)CAC>TAC	p.H353Y		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	353	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						CAAACTTGCTCACCCAATGGC	0.473		NA											68	111					0	0	0	0
TSEN2	80746	broad.mit.edu	37	3	12545233	12545233	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:12545233G>A	uc003bxc.2	+	5	1168	c.781G>A	c.(781-783)GAG>AAG	p.E261K	TSEN2_uc003bwy.2_Missense_Mutation_p.E261K|TSEN2_uc003bwz.2_Missense_Mutation_p.E202K|TSEN2_uc003bxa.2_Missense_Mutation_p.E261K|TSEN2_uc011auq.1_Missense_Mutation_p.E261K|TSEN2_uc003bxb.2_Missense_Mutation_p.E261K|TSEN2_uc011aur.1_Missense_Mutation_p.E170K	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	261					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						CGTGCTGGTCGAGGAAGCGGA	0.567		NA											14	28					0	0	0	0
NR1D2	9975	broad.mit.edu	37	3	23996052	23996052	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:23996052C>G	uc003ccs.2	+	2	360	c.41C>G	c.(40-42)TCT>TGT	p.S14C	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	14	Poly-Ser.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						TATATCAGTTCTTCCAGCTCA	0.398		NA											57	94					0	0	0	0
NEK10	152110	broad.mit.edu	37	3	27244013	27244013	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:27244013T>G	uc010hfk.2	-	3	291	c.62A>C	c.(61-63)AAG>ACG	p.K21T	NEK10_uc003cds.1_Missense_Mutation_p.K106T|NEK10_uc010hfj.2_Missense_Mutation_p.K21T			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	709	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GACATCAGCCTTCTCCCCATA	0.478		NA											27	35					0	0	0	0
ZNF860	344787	broad.mit.edu	37	3	32031248	32031248	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32031248G>C	uc011axg.1	+	2	1226	c.677G>C	c.(676-678)AGA>ACA	p.R226T		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTACACATAAGAGAAAAATCT	0.308		NA											29	83					0	0	0	0
CNOT10	25904	broad.mit.edu	37	3	32776347	32776347	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32776347C>A	uc003cfc.1	+	12	1648	c.1393C>A	c.(1393-1395)CTC>ATC	p.L465I	CNOT10_uc011axi.1_Missense_Mutation_p.L237I|CNOT10_uc003cfd.1_Missense_Mutation_p.L464I|CNOT10_uc003cfe.1_Missense_Mutation_p.L465I|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.L525I|CNOT10_uc010hfw.1_Missense_Mutation_p.L160I	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	465					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						AGCCATATGTCTCAGAAATGC	0.408		NA											93	167					1.67e-42	1.87e-42	1	0
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:36884182G>A	uc003cgj.2	-	8	3731	c.3429C>T	c.(3427-3429)TTC>TTT	p.F1143F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1693					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGGTCTTAACGAACATGCTAT	0.408		NA											10	28					0	0	0	0
TMEM42	131616	broad.mit.edu	37	3	44903512	44903512	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:44903512G>C	uc003cnz.2	+	1	105	c.96G>C	c.(94-96)GCG>GCC	p.A32A		NM_144638	NP_653239	Q69YG0	TMM42_HUMAN	transmembrane protein 42	32						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		AGGCGGGTGCGATGCGGCGCC	0.741		NA											4	3					0	0	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451107	48451107	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48451107G>C	uc003csw.2	-	33	6081	c.5811C>G	c.(5809-5811)TTC>TTG	p.F1937L	PLXNB1_uc003cst.2_Missense_Mutation_p.F387L|PLXNB1_uc003csu.2_Missense_Mutation_p.F1754L|PLXNB1_uc003csx.2_Missense_Mutation_p.F1937L	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1937	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATCACCTGGAACAGGTCAT	0.607		NA											20	48					0	0	0	0
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48699002C>G	uc003cul.2	-	1	1347	c.1066G>C	c.(1066-1068)GAG>CAG	p.E356Q	CELSR3_uc003cuf.1_Missense_Mutation_p.E426Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	356	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672		NA											24	45					0	0	0	0
USP19	10869	broad.mit.edu	37	3	49152909	49152909	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49152909G>C	uc003cwd.1	-	11	1708	c.1547C>G	c.(1546-1548)TCC>TGC	p.S516C	USP19_uc003cwa.2_Missense_Mutation_p.S324C|USP19_uc003cvz.3_Missense_Mutation_p.S619C|USP19_uc011bcg.1_Missense_Mutation_p.S607C|USP19_uc003cwb.2_Missense_Mutation_p.S602C|USP19_uc003cwc.1_Missense_Mutation_p.S274C|USP19_uc011bch.1_Missense_Mutation_p.S617C|USP19_uc011bci.1_Missense_Mutation_p.S604C	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	516	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGAGTGTTGGACAGAGACTG	0.483		NA											49	56					0	0	0	0
USP19	10869	broad.mit.edu	37	3	49155409	49155409	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49155409G>A	uc003cwd.1	-	3	430	c.269C>T	c.(268-270)TCC>TTC	p.S90F	USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.S90F|USP19_uc011bcg.1_Missense_Mutation_p.S90F|USP19_uc003cwb.2_Missense_Mutation_p.S90F|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.S90F|USP19_uc011bci.1_Missense_Mutation_p.S90F	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	90	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGAGTGGATGCTGACCC	0.338		NA											63	43					0	0	0	0
CCDC36	339834	broad.mit.edu	37	3	49278740	49278740	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49278740C>T	uc003cwk.2	+	6	700	c.313C>T	c.(313-315)CCT>TCT	p.P105S	CCDC36_uc003cwl.3_Missense_Mutation_p.P105S|CCDC36_uc011bck.1_Missense_Mutation_p.P105S|CCDC36_uc010hkt.2_RNA	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	105										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTATTTCCTCCTCCTTTGTC	0.383		NA											15	33					0	0	0	0
MST1R	4486	broad.mit.edu	37	3	49929191	49929191	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49929191G>A	uc003cxy.3	-	15	3616	c.3352C>T	c.(3352-3354)CGC>TGC	p.R1118C	MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1118	Cytoplasmic (Potential).|Protein kinase.				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)		CCCCACTTACGACTTAGTGAC	0.527		NA											49	86					0	0	0	0
PDZRN3	23024	broad.mit.edu	37	3	73651507	73651507	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:73651507C>G	uc003dpl.1	-	3	1012	c.916G>C	c.(916-918)GAG>CAG	p.E306Q		NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	306	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCACATACCTCAATAATCCTG	0.478		NA											79	133					0	0	0	0
ROBO1	6091	broad.mit.edu	37	3	78737857	78737857	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:78737857G>T	uc003dqe.2	-	9	1319	c.1111C>A	c.(1111-1113)CAG>AAG	p.Q371K	ROBO1_uc003dqb.2_Missense_Mutation_p.Q332K|ROBO1_uc003dqc.2_Missense_Mutation_p.Q335K|ROBO1_uc003dqd.2_Missense_Mutation_p.Q335K|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.Q50K	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	371	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCTTCACACTGAAAAGTTACA	0.413		NA											7	8					0.00198382	0.00203384	1	0
PROS1	5627	broad.mit.edu	37	3	93646189	93646189	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:93646189C>G	uc003drb.3	-	2	480	c.139G>C	c.(139-141)GAA>CAA	p.E47Q	PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	47	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGGTTTCTTCAAGTAAAGAA	0.388		NA											38	53					0	0	0	0
EPHA6	285220	broad.mit.edu	37	3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:97439174G>C	uc010how.1	+	15	2897	c.2854G>C	c.(2854-2856)GAT>CAT	p.D952H	EPHA6_uc003drt.2_Missense_Mutation_p.D344H|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	857	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CTCAGCAAGCGATGCATGGAG	0.463		NA											38	53					0	0	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724488	113724488	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:113724488C>G	uc003eax.2	-	10	1882	c.1735G>C	c.(1735-1737)GAG>CAG	p.E579Q	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.E557Q|KIAA1407_uc011bip.1_Missense_Mutation_p.E566Q	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	579	Potential.									ovary(2)	2						TTCTTCAGCTCGAGAATTGTT	0.507		NA											48	96					0	0	0	0
C3orf30	152405	broad.mit.edu	37	3	118865466	118865466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:118865466G>T	uc003ecb.1	+	1	470	c.430G>T	c.(430-432)GAA>TAA	p.E144*	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Nonsense_Mutation_p.E144*	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	144										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488		NA											19	37					1.45e-14	1.58e-14	1	0
POLQ	10721	broad.mit.edu	37	3	121258384	121258384	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:121258384G>C	uc003eee.3	-	4	656	c.527C>G	c.(526-528)TCT>TGT	p.S176C		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	176	Helicase ATP-binding.				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)		CCTTGATGGAGAGGTGCTGCC	0.393		NA						DNA_polymerases_(catalytic_subunits)					22	48					0	0	0	0
CHCHD6	84303	broad.mit.edu	37	3	126451938	126451938	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:126451938C>G	uc003ejf.1	+	4	322	c.284C>G	c.(283-285)GCT>GGT	p.A95G	CHCHD6_uc010hsj.1_Missense_Mutation_p.A95G	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain	95											0						CAGGAGCATGCTGCTATCCAG	0.552		NA											8	57					0	0	0	0
COPG	22820	broad.mit.edu	37	3	128979529	128979529	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:128979529C>G	uc003els.2	+	12	1107	c.1007C>G	c.(1006-1008)TCA>TGA	p.S336*	COPG_uc010htb.2_Nonsense_Mutation_p.S242*	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	336	HEAT 3.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						GTCACAGATTCAAACCGCAGC	0.552		NA											33	43					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130293197	130293197	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:130293197G>A	uc010htl.2	+	7	3406	c.3375G>A	c.(3373-3375)CTG>CTA	p.L1125L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1125	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CGGAAGCCCTGAGACACAGAG	0.567		NA											27	52					0	0	0	0
ACAD11	84129	broad.mit.edu	37	3	132294631	132294631	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132294631C>G	uc003eov.3	-	17	2366	c.1986G>C	c.(1984-1986)AAG>AAC	p.K662N		NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	662						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						CATACAACTTCTTCTTGAAAG	0.438		NA											23	54					0	0	0	0
UBA5	79876	broad.mit.edu	37	3	132394720	132394720	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132394720C>G	uc003epa.3	+	11	1326	c.1084C>G	c.(1084-1086)CCA>GCA	p.P362A	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.P306A|UBA5_uc010htt.2_Intron|UBA5_uc003epb.3_Missense_Mutation_p.P306A|UBA5_uc003epc.2_5'Flank	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN	ubiquitin-activating enzyme 5 isoform 1	362					protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1						AGGTCCAGTTCCAGACTTACC	0.308		NA											24	33					0	0	0	0
NPHP3	27031	broad.mit.edu	37	3	132423059	132423059	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132423059C>G	uc003epe.1	-	9	1584	c.1507G>C	c.(1507-1509)GAG>CAG	p.E503Q	NPHP3_uc003epf.1_Missense_Mutation_p.E258Q	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	503	TPR 1.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						AATCCCAACTCATGGGCTGAA	0.363		NA											95	106					0	0	0	0
KY	339855	broad.mit.edu	37	3	134327552	134327552	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:134327552C>G	uc010hty.2	-	10	1091	c.1029G>C	c.(1027-1029)AAG>AAC	p.K343N	KY_uc011blw.1_Intron|KY_uc011blx.1_Missense_Mutation_p.K322N|KY_uc003eqr.1_Missense_Mutation_p.K109N	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	343						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						AGAATTCACTCTTGTGATACA	0.507		NA											56	75					0	0	0	0
PLS1	5357	broad.mit.edu	37	3	142394998	142394998	+	Splice_Site	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:142394998G>C	uc010huv.2	+	5	524	c.365_splice	c.e5-1	p.E122_splice	PLS1_uc003euz.2_Splice_Site_p.E122_splice|PLS1_uc003eva.2_Splice_Site_p.E122_splice	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1							cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						TCTCCTTTCAGAGGAAGAAAA	0.353		NA											20	50					0	0	0	0
P2RY13	53829	broad.mit.edu	37	3	151046746	151046746	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:151046746G>C	uc003eyv.2	-	2	119	c.98C>G	c.(97-99)TCT>TGT	p.S33C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	33	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GCACCGCTCAGATCTGTTGAA	0.458		NA											62	80					0	0	0	0
BCHE	590	broad.mit.edu	37	3	165548094	165548094	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:165548094G>A	uc003fem.3	-	2	888	c.728C>T	c.(727-729)TCA>TTA	p.S243L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	243					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGTGAACAATGAATGGCTTCC	0.438		NA											35	131					0	0	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:169540507G>C	uc003fgb.2	+	1	798	c.798G>C	c.(796-798)GGG>GGC	p.G266G		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266	LRR 11.										0						GGCTGAGCGGGAACCGCCTGG	0.612		NA											26	19					0	0	0	0
FNDC3B	64778	broad.mit.edu	37	3	172096154	172096154	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:172096154G>A	uc003fhy.2	+	24	3275	c.3103G>A	c.(3103-3105)GAG>AAG	p.E1035K	FNDC3B_uc003fhz.3_Missense_Mutation_p.E1035K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1035	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCAGCAAGCGAGGCTGGAGA	0.488		NA											50	42					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			46	44					0	0	0	0
BCL6	604	broad.mit.edu	37	3	187447411	187447411	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:187447411G>C	uc003frp.3	-	5	1239	c.782C>G	c.(781-783)CCC>CGC	p.P261R	BCL6_uc011bsf.1_Missense_Mutation_p.P261R|BCL6_uc010hza.2_Missense_Mutation_p.P159R|BCL6_uc003frq.1_Missense_Mutation_p.P261R	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	261					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTTTCCTTGGGTGAATAGAT	0.572		NA	T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								28	62					0	0	0	0
PPP1R2	5504	broad.mit.edu	37	3	195256617	195256617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:195256617C>A	uc003fup.2	-	2	584	c.208G>T	c.(208-210)GAA>TAA	p.E70*	PPP1R2_uc003fuq.3_Nonsense_Mutation_p.E70*	NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	70					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GTGCTTGGTTCATCTATTTTC	0.373		NA											60	52					2.73e-28	3.05e-28	1	0
FAM193A	8603	broad.mit.edu	37	4	2696731	2696731	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:2696731G>T	uc010icl.2	+	15	2629	c.2278G>T	c.(2278-2280)GAT>TAT	p.D760Y	FAM193A_uc010ick.2_Missense_Mutation_p.D960Y|FAM193A_uc003gfd.2_Missense_Mutation_p.D760Y|FAM193A_uc011bvm.1_Missense_Mutation_p.D782Y|FAM193A_uc011bvn.1_Missense_Mutation_p.D760Y|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D614Y	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	760										ovary(3)	3						ACAGCAGGATGATGGGGACGA	0.597		NA											4	5					2.56e-06	2.69e-06	1	0
LPHN3	23284	broad.mit.edu	37	4	62935975	62935975	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:62935975C>T	uc010ihh.2	+	23	3932	c.3759C>T	c.(3757-3759)ACC>ACT	p.T1253T	LPHN3_uc003hcq.3_3'UTR|LPHN3_uc003hct.2_Silent_p.T637T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1231	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ATAACGAGACCGCCCTAGAGA	0.458		NA											5	5					0	0	0	0
EPHA5	2044	broad.mit.edu	37	4	66467879	66467879	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:66467879G>C	uc003hcy.2	-	3	583	c.390C>G	c.(388-390)CTC>CTG	p.L130L	EPHA5_uc003hcx.2_Silent_p.L61L|EPHA5_uc003hcz.2_Silent_p.L130L|EPHA5_uc011cah.1_Silent_p.L130L|EPHA5_uc011cai.1_Silent_p.L130L|EPHA5_uc003hda.2_Silent_p.L130L	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	130	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGGTAAATTTGAGTTCTATGA	0.428		NA								TSP Lung(17;0.13)			52	29					0	0	0	0
C4orf40	401137	broad.mit.edu	37	4	71024438	71024438	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:71024438G>C	uc003hfa.3	+	4	542	c.469G>C	c.(469-471)GAG>CAG	p.E157Q	C4orf40_uc003hfb.3_Missense_Mutation_p.E157Q	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	157	Ala-rich.					extracellular region					0						TGTTGCAGCTGAGCCTGCTGC	0.642		NA											43	11					0	0	0	0
ADH1C	126	broad.mit.edu	37	4	100261734	100261734	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:100261734C>T	uc003huu.2	-	9	1047	c.962G>A	c.(961-963)GGA>GAA	p.G321E		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	321					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTACATACCTCCAAAAATAGC	0.413		NA							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				92	72					0	0	0	0
C4orf31	79625	broad.mit.edu	37	4	121957931	121957931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:121957931G>A	uc003idq.1	-	4	1722	c.1195C>T	c.(1195-1197)CAG>TAG	p.Q399*		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	399											0						TCCACATTCTGAGACAGAAGA	0.418		NA											46	41					0	0	0	0
NUDT6	11162	broad.mit.edu	37	4	123814217	123814217	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:123814217G>A	uc003iew.2	-	5	749	c.717C>T	c.(715-717)TGC>TGT	p.C239C	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.C70C	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	239	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity				0						ATTCTTCCTGGCAAAAATTTA	0.443		NA											4	81					0	0	0	0
GAB1	2549	broad.mit.edu	37	4	144354740	144354740	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:144354740C>T	uc003ije.2	+	3	823	c.464C>T	c.(463-465)TCT>TTT	p.S155F	GAB1_uc003ijd.2_Missense_Mutation_p.S155F|GAB1_uc011chq.1_Missense_Mutation_p.S52F	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	155					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					GATTCATCCTCTGCTACTCTA	0.483		NA											46	28					0	0	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148867785	148867785	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:148867785G>A	uc003ilf.2	+	15	1321	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K	ARHGAP10_uc003ilg.2_Missense_Mutation_p.E90K|ARHGAP10_uc003ilh.2_Missense_Mutation_p.E22K	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	441	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AACATGCAATGAGGTGGACCT	0.383		NA											12	5					0	0	0	0
MND1	84057	broad.mit.edu	37	4	154315459	154315459	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154315459G>A	uc003ink.1	+	5	411	c.322G>A	c.(322-324)GAG>AAG	p.E108K		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	108	Potential.				DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)					GAAAAGCATTGAGAAAGCTAA	0.353		NA											14	13					0	0	0	0
MND1	84057	broad.mit.edu	37	4	154318395	154318395	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154318395G>C	uc003ink.1	+	6	465	c.376G>C	c.(376-378)GAG>CAG	p.E126Q		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	126	Potential.				DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358		NA											6	3					0	0	0	0
LRAT	9227	broad.mit.edu	37	4	155665794	155665794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:155665794G>T	uc003iom.1	+	1	643	c.316G>T	c.(316-318)GCC>TCC	p.A106S	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.A106S	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	106	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGTCAAAGTGGCCAGCATCCG	0.572		NA											9	4					5.49e-09	5.85e-09	1	0
NAF1	92345	broad.mit.edu	37	4	164050069	164050069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:164050069G>A	uc003iqj.2	-	8	1659	c.1465C>T	c.(1465-1467)CAT>TAT	p.H489Y	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	489					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTCCAAAATGAGAATTACTA	0.264		NA											17	12					0	0	0	0
NEK1	4750	broad.mit.edu	37	4	170428916	170428916	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:170428916C>G	uc003isb.1	-	20	2269	c.1777G>C	c.(1777-1779)GAA>CAA	p.E593Q	NEK1_uc003isc.1_Missense_Mutation_p.E549Q|NEK1_uc003isd.1_Missense_Mutation_p.E621Q|NEK1_uc003ise.1_Missense_Mutation_p.E577Q|NEK1_uc003isf.1_Missense_Mutation_p.E524Q	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	593					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCACTTCCTTCTTGTCCTTCA	0.358		NA											30	22					0	0	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186271	5186271	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:5186271G>C	uc003jdl.2	+	5	1008	c.870G>C	c.(868-870)CTG>CTC	p.L290L	ADAMTS16_uc003jdk.1_Silent_p.L290L|ADAMTS16_uc003jdj.1_Silent_p.L290L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	290	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						ATGAAGAACTGAACGTGGAGA	0.473		NA											38	51					0	0	0	0
BASP1	10409	broad.mit.edu	37	5	17275436	17275436	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:17275436G>A	uc003jfx.2	+	2	290	c.111G>A	c.(109-111)CCG>CCA	p.P37P		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	37					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						AGGGGACCCCGAAGGAGAGTG	0.647		NA											11	12					0	0	0	0
NPR3	4883	broad.mit.edu	37	5	32712159	32712159	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:32712159C>T	uc003jhv.2	+	1	495	c.277C>T	c.(277-279)CTG>TTG	p.L93L	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Silent_p.L93L	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	93	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677		NA											17	41					0	0	0	0
ZNF131	7690	broad.mit.edu	37	5	43161724	43161724	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:43161724A>G	uc011cpw.1	+	5	781	c.745A>G	c.(745-747)ATT>GTT	p.I249V	ZNF131_uc010ivl.1_Intron|ZNF131_uc003jnj.3_Intron|ZNF131_uc003jnk.2_Intron|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGGTATTGAAATTGTGGAACT	0.403		NA											23	49					0	0	0	0
PDE8B	8622	broad.mit.edu	37	5	76715710	76715710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:76715710G>A	uc003kfa.2	+	19	2293	c.2248G>A	c.(2248-2250)GAG>AAG	p.E750K	PDE8B_uc003kfb.2_Missense_Mutation_p.E730K|PDE8B_uc003kfc.2_Missense_Mutation_p.E695K|PDE8B_uc003kfd.2_Missense_Mutation_p.E703K|PDE8B_uc003kfe.2_Missense_Mutation_p.E653K	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	750	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AATGGCAGCTGAGGTGAGTAC	0.448		NA											17	33					0	0	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95087996	95087996	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:95087996G>A	uc003klm.2	+	5	1161	c.624G>A	c.(622-624)AAG>AAA	p.K208K	RHOBTB3_uc003klk.1_Silent_p.K2K	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	208					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAAAAATGAAGAAAAGAAAAA	0.313		NA											46	96					0	0	0	0
PJA2	9867	broad.mit.edu	37	5	108691708	108691708	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:108691708C>T	uc003kos.3	-	7	1892	c.1672G>A	c.(1672-1674)GAT>AAT	p.D558N		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	558	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCTAGTCCATCTGCAAAGCCA	0.383		NA											39	78					0	0	0	0
APC	324	broad.mit.edu	37	5	112137026	112137026	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:112137026G>C	uc010jby.2	+	8	1160	c.780G>C	c.(778-780)CAG>CAC	p.Q260H	APC_uc011cvt.1_Missense_Mutation_p.Q242H|APC_uc003kpz.3_Missense_Mutation_p.Q260H|APC_uc003kpy.3_Missense_Mutation_p.Q260H|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	260	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGAGCGGCAGAATGAAGGTC	0.358		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			15	35					0	0	0	0
FAM170A	340069	broad.mit.edu	37	5	118968548	118968548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:118968548C>G	uc003ksm.2	+	2	386	c.176C>G	c.(175-177)TCC>TGC	p.S59C	FAM170A_uc003ksl.2_Missense_Mutation_p.S59C|FAM170A_uc003ksn.2_Missense_Mutation_p.S59C|FAM170A_uc003kso.2_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	59						intracellular	zinc ion binding			skin(1)	1						GAATACTGCTCCTGCGTTTCT	0.547		NA											33	61					0	0	0	0
ALDH7A1	501	broad.mit.edu	37	5	125918566	125918566	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:125918566C>T	uc003ktx.2	-	5	686	c.494G>A	c.(493-495)GGA>GAA	p.G165E	ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.G192E|ALDH7A1_uc003ktz.2_Missense_Mutation_p.G192E	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	165					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GATAGGTCCTCCAATCATCCT	0.388		NA											30	27					0	0	0	0
AFF4	27125	broad.mit.edu	37	5	132232368	132232368	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:132232368C>G	uc003kyd.2	-	11	2362	c.1954G>C	c.(1954-1956)GAT>CAT	p.D652H	AFF4_uc011cxk.1_Missense_Mutation_p.D330H|AFF4_uc003kye.1_Missense_Mutation_p.D652H	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	652					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCTGAATCTGAGGATGAG	0.438		NA											38	73					0	0	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201501	140201501	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201501C>T	uc003lhl.2	+	1	141	c.141C>T	c.(139-141)ATC>ATT	p.I47I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.I47I|PCDHA5_uc003lhj.1_Silent_p.I47I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	47	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCCGCATCGCGCAGGACC	0.647		NA											46	56					0	0	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201580	140201580	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201580C>T	uc003lhl.2	+	1	220	c.220C>T	c.(220-222)CTG>TTG	p.L74L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.L74L|PCDHA5_uc003lhj.1_Silent_p.L74L	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	74	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	p.Q49fs*50(1)		ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGACCTTCTGGAGGTAAA	0.647		NA											67	130					0	0	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209500	140209500	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140209500G>A	uc003lho.2	+	1	1851	c.1824G>A	c.(1822-1824)TCG>TCA	p.S608S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S608S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	608	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657		NA											21	46					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532108	140532108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140532108C>G	uc003lir.2	+	1	2270	c.2270C>G	c.(2269-2271)TCA>TGA	p.S757*	PCDHB6_uc011dah.1_Nonsense_Mutation_p.S621*	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	757	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGGAGGCTCAGAAACAAAT	0.562		NA											67	101					0	0	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710402	140710402	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140710402G>A	uc003lji.1	+	1	151	c.151G>A	c.(151-153)GAC>AAC	p.D51N	PCDHGA1_uc011dan.1_Missense_Mutation_p.D51N	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	51	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCGCCAAGGACCTAGGGCT	0.557		NA											31	89					0	0	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711728	140711728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140711728G>A	uc003lji.1	+	1	1477	c.1477G>A	c.(1477-1479)GAG>AAG	p.E493K	PCDHGA1_uc011dan.1_Missense_Mutation_p.E493K	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	493	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTAATAGAGGACACTAT	0.537		NA											53	135					0	0	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782700	140782700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140782700G>T	uc003lkh.1	+	1	181	c.181G>T	c.(181-183)GAG>TAG	p.E61*	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_uc011dax.1_Nonsense_Mutation_p.E61*	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	61	Cadherin 1.|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)			GGAGCTGGCGGAGCGCCGAGT	0.607		NA											53	86					7.42e-26	8.25e-26	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812070	140812070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140812070G>A	uc003lkt.1	+	1	1913	c.1744G>A	c.(1744-1746)GCA>ACA	p.A582T	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_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A582T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	582	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCTCCGCAGAGCCCGG	0.682		NA											58	105					0	0	0	0
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:150512081C>T	uc003ltl.1	-	10	844	c.692G>A	c.(691-693)CGA>CAA	p.R231Q	ANXA6_uc011dcp.1_Missense_Mutation_p.R199Q|ANXA6_uc003ltm.1_Missense_Mutation_p.R231Q|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	231	Annexin 3.					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)			0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552		NA											7	22					0	0	0	0
N4BP3	23138	broad.mit.edu	37	5	177547335	177547335	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:177547335C>T	uc003mik.1	+	3	734	c.487C>T	c.(487-489)CGG>TGG	p.R163W	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	163				R -> Q (in Ref. 3; AAH53323).		cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CCCCGGGCCCCGGGCCAGCCA	0.706		NA											6	9					0	0	0	0
JARID2	3720	broad.mit.edu	37	6	15410497	15410497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:15410497C>T	uc003nbj.2	+	3	468	c.224C>T	c.(223-225)TCA>TTA	p.S75L	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.S37L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	75					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGACCAGCATCAGAACAGTCA	0.463		NA											114	27					0	0	0	0
LRRC16A	55604	broad.mit.edu	37	6	25450578	25450578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:25450578C>T	uc011djw.1	+	7	857	c.481C>T	c.(481-483)CAG>TAG	p.Q161*	LRRC16A_uc010jpx.2_Nonsense_Mutation_p.Q161*|LRRC16A_uc010jpy.2_Nonsense_Mutation_p.Q161*|LRRC16A_uc003nez.1_5'UTR	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	161					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						TGGATTTTCTCAGATGTATGC	0.378		NA											17	14					0	0	0	0
OR11A1	26531	broad.mit.edu	37	6	29394966	29394966	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:29394966G>C	uc003nmg.2	-	1	544	c.453C>G	c.(451-453)CTC>CTG	p.L151L		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAAATCCAGAGAGCCAGGTTG	0.547		NA											17	19					0	0	0	0
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:32815407G>A	uc003ocg.2	-	9	2121	c.1966C>T	c.(1966-1968)CAA>TAA	p.Q656*	PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Nonsense_Mutation_p.Q395*	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	656	Cytoplasmic (Potential).|ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						ATATTTTCTTGAAGACTTCTT	0.468		NA											26	15					0	0	0	0
ITPR3	3710	broad.mit.edu	37	6	33660555	33660555	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:33660555C>T	uc011drk.1	+	55	7728	c.7509C>T	c.(7507-7509)ATC>ATT	p.I2503I	ITPR3_uc003oey.2_Silent_p.I590I	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2503	Helical; (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TCTTCTTCATCGTCATCATCA	0.537		NA											32	35					0	0	0	0
KCNK5	8645	broad.mit.edu	37	6	39159321	39159321	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39159321C>T	uc003oon.2	-	5	1209	c.845G>A	c.(844-846)AGC>AAC	p.S282N		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	282	Cytoplasmic (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GGAGGCTGTGCTCCCCTTCAC	0.547		NA											71	48					0	0	0	0
DAAM2	23500	broad.mit.edu	37	6	39846340	39846340	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39846340G>C	uc003oow.2	+	13	1677	c.1521G>C	c.(1519-1521)CTG>CTC	p.L507L	DAAM2_uc010jxc.2_Silent_p.L507L|DAAM2_uc003oox.2_Silent_p.L507L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	507	Potential.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCAGAGCTGGTAGCCCAGC	0.582		NA											3	1					0	0	0	0
GCM1	8521	broad.mit.edu	37	6	52993467	52993467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:52993467G>A	uc003pbp.2	-	6	1057	c.848C>T	c.(847-849)TCT>TTT	p.S283F		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	283						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					TCCGGAGGCAGAAGGAGGAAG	0.473		NA											22	48					0	0	0	0
IBTK	25998	broad.mit.edu	37	6	82927733	82927733	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:82927733C>G	uc003pjl.1	-	10	1897	c.1370G>C	c.(1369-1371)GGA>GCA	p.G457A	IBTK_uc011dyv.1_Missense_Mutation_p.G457A|IBTK_uc011dyw.1_Missense_Mutation_p.G457A|IBTK_uc010kbi.1_Missense_Mutation_p.G151A|IBTK_uc003pjm.2_Missense_Mutation_p.G457A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	457					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAATCCTTCTCCATCTTGCGT	0.353		NA											21	32					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83830475	83830475	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:83830475G>A	uc003pjs.1	+	10	1324	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	DOPEY1_uc011dyy.1_Missense_Mutation_p.R346H|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	355					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTTTTCGCATTTTAATC	0.368		NA											12	45					0	0	0	0
SFRS18	25957	broad.mit.edu	37	6	99856061	99856061	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:99856061C>T	uc003ppo.3	-	7	988	c.760G>A	c.(760-762)GAA>AAA	p.E254K	SFRS18_uc003ppp.3_Missense_Mutation_p.E254K|SFRS18_uc011eag.1_Missense_Mutation_p.E254K|SFRS18_uc003ppr.2_Missense_Mutation_p.E254K	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	254	Potential.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TCCATTCTTTCTTTCTCCAAT	0.443		NA											52	68					0	0	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778028	110778028	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:110778028C>G	uc003puf.2	-	2	313	c.246G>C	c.(244-246)CAG>CAC	p.Q82H	SLC22A16_uc003pue.2_Intron|SLC22A16_uc003pug.2_Missense_Mutation_p.Q82H	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	82					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CATAATCTTTCTGGCCTGAAG	0.488		NA											64	128					0	0	0	0
GTF3C6	112495	broad.mit.edu	37	6	111288781	111288781	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:111288781C>G	uc003pum.2	+	6	640	c.430C>G	c.(430-432)CTA>GTA	p.L144V		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide	144						transcription factor TFIIIC complex	DNA binding|protein binding				0		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTGTAACTTTCTACATGAAAA	0.393		NA											62	121					0	0	0	0
TSPYL1	7259	broad.mit.edu	37	6	116599934	116599934	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:116599934G>C	uc003pwp.3	-	1	1347	c.1060C>G	c.(1060-1062)CCA>GCA	p.P354A	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	354					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CATATAATTGGAGTAGAAAGA	0.473		NA											43	98					0	0	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150061	117150061	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:117150061C>G	uc003pxj.1	-	1	138	c.116G>C	c.(115-117)GGA>GCA	p.G39A	GPRC6A_uc003pxk.1_Missense_Mutation_p.G39A|GPRC6A_uc003pxl.1_Missense_Mutation_p.G39A	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	39	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAACAAACCTCCAATTATGAT	0.433		NA											22	33					0	0	0	0
TRDN	10345	broad.mit.edu	37	6	123869710	123869710	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:123869710C>T	uc003pzj.1	-	3	302	c.280G>A	c.(280-282)GAT>AAT	p.D94N	TRDN_uc003pzk.1_Missense_Mutation_p.D94N|TRDN_uc003pzl.1_Missense_Mutation_p.D94N|TRDN_uc010ken.2_Missense_Mutation_p.D94N|TRDN_uc010keo.1_Missense_Mutation_p.D94N	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	94	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		TCCATAGCATCACGTACCAGT	0.353		NA											4	4					0	0	0	0
ENPP3	5169	broad.mit.edu	37	6	131999049	131999049	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:131999049C>G	uc003qcu.3	+	12	1327	c.980C>G	c.(979-981)TCT>TGT	p.S327C	ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.S327C	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	327	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGATTCCTCTGGACATGCA	0.348		NA											18	40					0	0	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599330	136599330	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:136599330G>A	uc003qgx.1	-	4	942	c.689C>T	c.(688-690)TCA>TTA	p.S230L	BCLAF1_uc003qgw.1_Missense_Mutation_p.S230L|BCLAF1_uc003qgy.1_Missense_Mutation_p.S228L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S228L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	230					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCAATAGGTGAAGGACTATG	0.433		NA											41	125					0	0	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:137245833G>C	uc003qhe.2	+	2	1415	c.1250G>C	c.(1249-1251)TGA>TCA	p.*417S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	417					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408		NA											25	34					0	0	0	0
PERP	64065	broad.mit.edu	37	6	138428475	138428475	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:138428475C>A	uc003qht.2	-	1	186	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	1					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CGCAGCGGATCATGTTGACGG	0.582		NA											20	35					2.39e-15	2.61e-15	1	0
SHPRH	257218	broad.mit.edu	37	6	146264599	146264599	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:146264599C>T	uc003qlf.2	-	9	2317	c.1918G>A	c.(1918-1920)GAT>AAT	p.D640N	SHPRH_uc003qld.2_Missense_Mutation_p.D640N|SHPRH_uc003qle.2_Missense_Mutation_p.D640N|SHPRH_uc003qlg.1_Missense_Mutation_p.D196N|SHPRH_uc003qlj.1_Missense_Mutation_p.D529N	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	640					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACATCACTATCAGCATGATTT	0.393		NA											42	90					0	0	0	0
NUP43	348995	broad.mit.edu	37	6	150052833	150052833	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:150052833G>C	uc003qmz.2	-	7	886	c.829C>G	c.(829-831)CTT>GTT	p.L277V	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.L181V	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	277	WD 6.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAGGTAAAAAGATGTTCTGGG	0.423		NA											15	27					0	0	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152198	151152198	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:151152198G>C	uc003qny.1	+	16	2263	c.1951G>C	c.(1951-1953)GAG>CAG	p.E651Q	PLEKHG1_uc011eel.1_Missense_Mutation_p.E691Q|PLEKHG1_uc011eem.1_Missense_Mutation_p.E710Q|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E651Q	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	651					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCATCCATAGAGTTGACTAT	0.453		NA											12	18					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152644705	152644705	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:152644705G>C	uc010kiw.2	-	82	16427	c.15825C>G	c.(15823-15825)ACC>ACG	p.T5275T	SYNE1_uc003qot.3_Silent_p.T5204T|SYNE1_uc003qou.3_Silent_p.T5275T|SYNE1_uc010kiz.2_Silent_p.T1030T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5275	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGCTCAGGGTTTGCTGCC	0.567		NA								HNSCC(10;0.0054)			26	46					0	0	0	0
C6orf120	387263	broad.mit.edu	37	6	170102948	170102948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170102948G>A	uc003qxb.2	+	1	692	c.393G>A	c.(391-393)ATG>ATA	p.M131I	WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.M150I	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	hypothetical protein LOC387263 precursor	131						extracellular region					0		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGTTCGAGATGAAGGTGTACT	0.711		NA											10	24					0	0	0	0
FAM120B	84498	broad.mit.edu	37	6	170626882	170626882	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170626882C>G	uc003qxp.2	+	2	512	c.404C>G	c.(403-405)TCA>TGA	p.S135*	FAM120B_uc003qxo.1_Nonsense_Mutation_p.S135*|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	135					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCATCCCCTCAGGGCTAGCT	0.458		NA											36	67					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4247913	4247913	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4247913G>A	uc003smx.2	+	37	5536	c.5397G>A	c.(5395-5397)CAG>CAA	p.Q1799Q	SDK1_uc010kso.2_Silent_p.Q1055Q|SDK1_uc003smy.2_Silent_p.Q286Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1799					cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCACCCACCAGGCCGGTAGGA	0.627		NA											8	26					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4862113	4862113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4862113C>T	uc003snj.1	-	6	1700	c.1527G>A	c.(1525-1527)TGG>TGA	p.W509*	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Nonsense_Mutation_p.W14*|RADIL_uc011jwc.1_Nonsense_Mutation_p.W269*|RADIL_uc011jwd.1_Intron	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	509	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.W509*(1)		lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTTAGACATCCAGAAAAGAA	0.537		NA											12	42					0	0	0	0
AHR	196	broad.mit.edu	37	7	17379231	17379231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:17379231C>G	uc011jxz.1	+	10	2395	c.1782C>G	c.(1780-1782)TTC>TTG	p.F594L	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	594					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AGTCTCCCTTCATACCTTCAG	0.403		NA											51	79					0	0	0	0
DPY19L1	23333	broad.mit.edu	37	7	34997615	34997615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:34997615G>A	uc003tem.3	-	11	1086	c.941C>T	c.(940-942)TCT>TTT	p.S314F		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	dpy-19-like 1	314	Helical; (Potential).					integral to membrane					0						TACCAAAGAAGAAGCATAATA	0.289		NA											4	17					0	0	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555448	44555448	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:44555448G>A	uc003tlb.2	-	19	3887	c.3831C>T	c.(3829-3831)GGC>GGT	p.G1277G	NPC1L1_uc003tlc.2_Silent_p.G1250G|NPC1L1_uc011kbw.1_Silent_p.G1204G|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1277	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CATGCAGCAGGCCCAGCAGAG	0.577		NA											15	30					0	0	0	0
COBL	23242	broad.mit.edu	37	7	51096582	51096582	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:51096582C>A	uc003tpr.3	-	10	2396	c.2211G>T	c.(2209-2211)GGG>GGT	p.G737G	COBL_uc003tps.2_Silent_p.G794G|COBL_uc011kcl.1_Silent_p.G737G|COBL_uc003tpp.3_Silent_p.G523G|COBL_uc003tpq.3_Silent_p.G678G|COBL_uc003tpo.3_Silent_p.G279G	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	737										skin(3)|ovary(2)	5	Glioma(55;0.08)					TCACCAAGTTCCCCAGCTCGT	0.507		NA											20	41					0.00188189	0.00193087	1	0
VKORC1L1	154807	broad.mit.edu	37	7	65419170	65419170	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65419170C>G	uc003tul.2	+	3	516	c.414C>G	c.(412-414)TTC>TTG	p.F138L	VKORC1L1_uc011kds.1_Missense_Mutation_p.L102V|VKORC1L1_uc003tum.1_5'Flank	NM_173517	NP_775788	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit	138	Helical; (Potential).					integral to membrane					0		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGAAGGAGTTCTGCATCATCT	0.517		NA											35	39					0	0	0	0
GUSB	2990	broad.mit.edu	37	7	65439419	65439419	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65439419G>A	uc003tun.2	-	8	1330	c.1254C>T	c.(1252-1254)TTC>TTT	p.F418F	GUSB_uc011kdt.1_Silent_p.F272F	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	418					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						AAACGTTGTTGAAGAACTGCC	0.632		NA											35	47					0	0	0	0
STYXL1	51657	broad.mit.edu	37	7	75630281	75630281	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:75630281G>T	uc003uej.3	-	8	910	c.737C>A	c.(736-738)TCC>TAC	p.S246Y	STYXL1_uc003uef.2_Intron|STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_Intron|STYXL1_uc003ueh.2_Missense_Mutation_p.S108Y|STYXL1_uc003uek.3_Missense_Mutation_p.S150Y|STYXL1_uc003uel.2_Missense_Mutation_p.S246Y|STYXL1_uc003uem.2_Missense_Mutation_p.S246Y|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.S246Y|STYXL1_uc003uen.1_Intron	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	246	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						ACCTTGGGTGGAAAAGATCAG	0.567		NA											33	103					1.31e-17	1.44e-17	1	0
PEX1	5189	broad.mit.edu	37	7	92131290	92131290	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:92131290C>G	uc003uly.2	-	14	2426	c.2330G>C	c.(2329-2331)GGC>GCC	p.G777A	PEX1_uc011khr.1_Missense_Mutation_p.G569A|PEX1_uc010ley.2_Missense_Mutation_p.G720A|PEX1_uc011khs.1_Missense_Mutation_p.G455A|PEX1_uc011kht.1_Intron	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	777					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CACAAACCCGCCAGTTTCTTT	0.378		NA											121	191					0	0	0	0
SGCE	8910	broad.mit.edu	37	7	94230021	94230021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:94230021G>T	uc003unl.2	-	7	1085	c.974C>A	c.(973-975)TCG>TAG	p.S325*	SGCE_uc003unk.2_Nonsense_Mutation_p.S157*|SGCE_uc003unm.2_Nonsense_Mutation_p.S325*|SGCE_uc003unn.2_Nonsense_Mutation_p.S325*|SGCE_uc011kic.1_Nonsense_Mutation_p.S284*|SGCE_uc011kid.1_Nonsense_Mutation_p.S361*	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	325	Cys-rich.|Helical; (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433		NA											19	31					4.35e-09	4.64e-09	1	0
ZNF3	7551	broad.mit.edu	37	7	99674971	99674971	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99674971G>C	uc003usq.2	-	3	317	c.10C>G	c.(10-12)CAG>GAG	p.Q4E	ZNF3_uc003usp.2_Missense_Mutation_p.Q4E|ZNF3_uc003usr.2_Missense_Mutation_p.Q4E|ZNF3_uc010lgj.2_Intron|ZNF3_uc003uss.2_Intron|ZNF3_uc003ust.3_Missense_Mutation_p.Q4E	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	4					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGATCAGCCTGAGTTTCCATG	0.438		NA											50	88					0	0	0	0
C7orf43	55262	broad.mit.edu	37	7	99754719	99754719	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99754719G>A	uc003utr.2	-	5	1023	c.843C>T	c.(841-843)GTC>GTT	p.V281V	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.V49V|C7orf43_uc003uts.2_Silent_p.V12V	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	281											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACCTCACCAGACATTGTCCA	0.572		NA											21	66					0	0	0	0
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99755503G>A	uc003utr.2	-	2	650	c.470C>T	c.(469-471)TCA>TTA	p.S157L	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	157											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537		NA											11	29					0	0	0	0
ACHE	43	broad.mit.edu	37	7	100488803	100488803	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100488803C>T	uc003uxd.2	-	3	1866	c.1710G>A	c.(1708-1710)TTG>TTA	p.L570L	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.L570L|ACHE_uc003uxf.2_Silent_p.L570L|ACHE_uc003uxg.2_Silent_p.L570L|ACHE_uc003uxh.2_Silent_p.L482L|ACHE_uc003uxi.2_Silent_p.L570L	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	570					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGGCGCTGAGCAATTTGGGGA	0.701		NA											8	9					0	0	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102045060	102045060	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:102045060G>C	uc003uzh.2	+	4	377	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	PRKRIP1_uc003uzf.2_Missense_Mutation_p.E57Q|PRKRIP1_uc003uzg.2_Missense_Mutation_p.E57Q|PRKRIP1_uc011kkq.1_Missense_Mutation_p.E51Q|PRKRIP1_uc011kkr.1_Missense_Mutation_p.E108Q	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	108	Potential.|Required for RNA-binding (By similarity).					nucleolus				ovary(1)	1						ATTGGATGCAGAGTTTCAGAA	0.483		NA									OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	102					0	0	0	0
LAMB4	22798	broad.mit.edu	37	7	107678026	107678026	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:107678026G>C	uc010ljo.1	-	30	4570	c.4486C>G	c.(4486-4488)CCA>GCA	p.P1496A	LAMB4_uc003vey.2_Missense_Mutation_p.P1496A|LAMB4_uc010ljp.1_Missense_Mutation_p.P465A	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1496	Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						ATGTCTTCTGGAGGCACGTTT	0.388		NA											31	71					0	0	0	0
WNT2	7472	broad.mit.edu	37	7	116918349	116918349	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:116918349T>G	uc003viz.2	-	5	1243	c.943A>C	c.(943-945)ACC>CCC	p.T315P	WNT2_uc003vja.2_Missense_Mutation_p.T219P	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	315					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACATGGGAGGTGTCGTAGCCT	0.597		NA											10	34					0	0	0	0
FSCN3	29999	broad.mit.edu	37	7	127240257	127240257	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:127240257G>A	uc003vmd.1	+	6	1520	c.1301G>A	c.(1300-1302)GGA>GAA	p.G434E	FSCN3_uc011koh.1_Silent_p.G298G|FSCN3_uc010llc.1_Silent_p.G432G	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	434						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						GCACAGGGGGGATCCTTCTGG	0.562		NA											21	41					0	0	0	0
NUP205	23165	broad.mit.edu	37	7	135292103	135292103	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:135292103C>G	uc003vsw.2	+	22	3210	c.3179C>G	c.(3178-3180)GCT>GGT	p.A1060G		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1060					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CCTCAGCTGGCTGAGCTATGT	0.498		NA											24	19					0	0	0	0
EPHB6	2051	broad.mit.edu	37	7	142561964	142561964	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:142561964G>A	uc011kst.1	+	7	1193	c.406G>A	c.(406-408)GAG>AAG	p.E136K	EPHB6_uc011ksu.1_Missense_Mutation_p.E136K|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	136	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CCGTCAGGCTGAGGAGCCCGA	0.577		NA											31	50					0	0	0	0
EPHA1	2041	broad.mit.edu	37	7	143104760	143104760	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143104760C>T	uc003wcz.2	-	2	181	c.94G>A	c.(94-96)GAC>AAC	p.D32N	uc003wda.2_5'Flank	NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	32	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGCTTGTGTCCATCAGAGTA	0.562		NA											99	149					0	0	0	0
OR2A2	442361	broad.mit.edu	37	7	143807003	143807003	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143807003G>C	uc011ktz.1	+	1	328	c.328G>C	c.(328-330)GAG>CAG	p.E110Q		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					TGCTGTTACAGAGTGCCTGAT	0.443		NA											57	126					0	0	0	0
MSRA	4482	broad.mit.edu	37	8	10102704	10102704	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:10102704C>T	uc003wsx.2	+	3	499	c.302C>T	c.(301-303)TCA>TTA	p.S101L	MSRA_uc011kwx.1_Intron|MSRA_uc011kwy.1_Missense_Mutation_p.S58L|MSRA_uc003wsz.2_Missense_Mutation_p.S58L|MSRA_uc003wsy.2_Missense_Mutation_p.S35L	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	101					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTATACTTCAAATCCTACT	0.408		NA											34	60					0	0	0	0
CTSB	1508	broad.mit.edu	37	8	11706668	11706668	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:11706668G>A	uc003wum.2	-	7	657	c.333C>T	c.(331-333)TTC>TTT	p.F111F	CTSB_uc003wul.2_5'Flank|CTSB_uc011kxl.1_Silent_p.F32F|CTSB_uc003wun.2_Silent_p.F111F|CTSB_uc003wuo.2_Silent_p.F111F|CTSB_uc003wup.2_Silent_p.F111F|CTSB_uc003wuq.2_Silent_p.F111F|CTSB_uc010lsc.2_Intron|CTSB_uc003wur.2_Silent_p.F111F|CTSB_uc003wus.1_Silent_p.F111F|CTSB_uc003wut.1_Silent_p.F111F|CTSB_uc003wuu.2_5'UTR	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	111					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCACAGCCCCGAAGGCCTGCA	0.657		NA											7	27					0	0	0	0
EPHX2	2053	broad.mit.edu	37	8	27394310	27394310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27394310G>A	uc003xfu.2	+	13	1261	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K	EPHX2_uc010lut.1_Missense_Mutation_p.E394K|EPHX2_uc010luu.2_Missense_Mutation_p.E362K|EPHX2_uc010luv.2_Missense_Mutation_p.E328K|EPHX2_uc003xfv.2_Missense_Mutation_p.E341K|EPHX2_uc010luw.2_Missense_Mutation_p.E328K	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	394	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGGAGTGGCTGAGGCTGAACT	0.512		NA											30	68					0	0	0	0
C8orf80	389643	broad.mit.edu	37	8	27898624	27898624	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27898624C>T	uc003xgm.3	-	13	1698	c.1555G>A	c.(1555-1557)GAA>AAA	p.E519K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	519						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CTGACCCCTTCTTGCAGAGGC	0.567		NA											9	5					0	0	0	0
ELP3	55140	broad.mit.edu	37	8	27967950	27967950	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27967950G>C	uc003xgo.3	+	6	605	c.457G>C	c.(457-459)GAA>CAA	p.E153Q	ELP3_uc003xgn.3_Missense_Mutation_p.E138Q|ELP3_uc011laq.1_Missense_Mutation_p.E81Q|ELP3_uc011lar.1_Missense_Mutation_p.E61Q|ELP3_uc011las.1_Missense_Mutation_p.E34Q|ELP3_uc011lat.1_Missense_Mutation_p.E34Q	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACACCGAATAGAACAGGTACA	0.343		NA											31	59					0	0	0	0
C8orf4	56892	broad.mit.edu	37	8	40011187	40011187	+	Missense_Mutation	SNP	G	G	A	rs10353		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:40011187G>A	uc003xnq.1	+	1	199	c.136G>A	c.(136-138)GAA>AAA	p.E46K		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	thyroid cancer-1	46					apoptosis					ovary(1)	1	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CACAGACCAAGAATCACTAGA	0.488		NA											29	46					0	0	0	0
MCM4	4173	broad.mit.edu	37	8	48885504	48885504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:48885504G>C	uc003xqk.1	+	14	2111	c.2016G>C	c.(2014-2016)CAG>CAC	p.Q672H	MCM4_uc003xql.1_Missense_Mutation_p.Q672H|MCM4_uc011ldi.1_Missense_Mutation_p.Q659H	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	672					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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTACTACCAGAGCGAGGAGC	0.552		NA											14	28					0	0	0	0
HEY1	23462	broad.mit.edu	37	8	80677568	80677568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:80677568G>A	uc003ybm.2	-	5	970	c.770C>T	c.(769-771)TCA>TTA	p.S257L	HEY1_uc010lzq.2_Missense_Mutation_p.S138L|HEY1_uc003ybl.2_Missense_Mutation_p.S261L	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	257					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAGGCCACTGAGGAGAGCAG	0.652		NA									OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	6					0	0	0	0
ESRP1	54845	broad.mit.edu	37	8	95709092	95709092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95709092G>C	uc003ygq.3	+	15	2167	c.1984G>C	c.(1984-1986)GAT>CAT	p.D662H	ESRP1_uc003ygr.3_Missense_Mutation_p.D658H|ESRP1_uc003ygs.3_Intron|ESRP1_uc003ygt.3_Intron|ESRP1_uc003ygu.3_Intron|ESRP1_uc003ygv.2_Intron|ESRP1_uc003ygw.2_Missense_Mutation_p.R451S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	662					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TGCAACCGAGGATGGACTTAT	0.388		NA											3	10					0	0	0	0
INTS8	55656	broad.mit.edu	37	8	95869113	95869113	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95869113C>T	uc003yhb.2	+	15	1987	c.1861C>T	c.(1861-1863)CAT>TAT	p.H621Y	INTS8_uc003yha.1_Missense_Mutation_p.H621Y|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.H448Y	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	621					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TTTGGATATTCATACACACGA	0.488		NA											51	77					0	0	0	0
TTC35	9694	broad.mit.edu	37	8	109462710	109462710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:109462710G>A	uc003ymw.1	+	3	243	c.208G>A	c.(208-210)GAC>AAC	p.D70N		NM_014673	NP_055488	Q15006	TTC35_HUMAN	tetratricopeptide repeat domain 35	70						endoplasmic reticulum|nucleus	binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			TGGTCGGGATGACTTGGCATT	0.318		NA											34	63					0	0	0	0
DERL1	79139	broad.mit.edu	37	8	124042888	124042888	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:124042888G>C	uc003ypl.2	-	2	508	c.222C>G	c.(220-222)GTC>GTG	p.V74V	DERL1_uc003ypm.2_Silent_p.V74V|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.V74V	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Der1-like domain family, member 1 isoform a	74	Helical; Name=2; (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity				0	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATATAAATTGACCAAATAAA	0.363		NA											32	71					0	0	0	0
FER1L6	654463	broad.mit.edu	37	8	125078776	125078776	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:125078776G>A	uc003yqw.2	+	27	3869	c.3663G>A	c.(3661-3663)CTG>CTA	p.L1221L	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1221	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCTCCCTGAAGAAAGCCC	0.483		NA											9	158					0	0	0	0
PHF20L1	51105	broad.mit.edu	37	8	133855066	133855066	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:133855066G>A	uc003ytt.2	+	19	3019	c.2694G>A	c.(2692-2694)ATG>ATA	p.M898I	PHF20L1_uc011lja.1_Missense_Mutation_p.M872I	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	898							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATTCCACATGAGAAGTAAAA	0.383		NA											34	78					0	0	0	0
PSCA	8000	broad.mit.edu	37	8	143763453	143763453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:143763453G>A	uc003ywu.2	+	3	330	c.275G>A	c.(274-276)TGC>TAC	p.C92Y	uc003ywt.1_5'Flank	NM_005672	NP_005663	O43653	PSCA_HUMAN	prostate stem cell antigen preproprotein	83											0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCGACTTGTGCAACGCCAGC	0.627		NA											14	23					0	0	0	0
ZNF707	286075	broad.mit.edu	37	8	144776267	144776267	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144776267G>A	uc003yze.3	+	7	998	c.683G>A	c.(682-684)CGC>CAC	p.R228H	ZNF707_uc010mfh.2_Missense_Mutation_p.R228H|ZNF707_uc010mfi.2_Missense_Mutation_p.R228H|ZNF707_uc003yzf.3_Missense_Mutation_p.R228H|ZNF707_uc003yzh.3_Missense_Mutation_p.R155H|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACCACACGCGCGAGAAGCCC	0.667		NA											11	14					0	0	0	0
SCRIB	23513	broad.mit.edu	37	8	144877604	144877604	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144877604C>G	uc003yzp.1	-	25	3707	c.3700G>C	c.(3700-3702)GAG>CAG	p.E1234Q	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.E1234Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1234					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTGGGCCCTCAGGGCTCAGC	0.677		NA											4	10					0	0	0	0
COMMD5	28991	broad.mit.edu	37	8	146076069	146076069	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:146076069C>G	uc003zem.2	-	2	786	c.655G>C	c.(655-657)GAG>CAG	p.E219Q	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.E219Q|COMMD5_uc003zeo.3_Missense_Mutation_p.E219Q|COMMD5_uc010mgf.2_Missense_Mutation_p.E219Q	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	219						nucleus	protein binding			ovary(1)	1	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGTCTGCGCTCACACCTCTTC	0.582		NA											10	20					0	0	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777191	18777191	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:18777191G>A	uc003zne.3	+	19	3091	c.2964G>A	c.(2962-2964)CCG>CCA	p.P988P		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	988						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGGCGGCCCGAAGGAGGCCC	0.652		NA											12	16					0	0	0	0
TOPORS	10210	broad.mit.edu	37	9	32541770	32541770	+	Missense_Mutation	SNP	G	G	A	rs142671355		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32541770G>A	uc003zrb.2	-	3	2920	c.2753C>T	c.(2752-2754)TCT>TTT	p.S918F	TOPORS_uc003zrc.2_Missense_Mutation_p.S851F	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	918					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTTACTTCAGAATCCTTATC	0.338		NA											65	44					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32630255	32630255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32630255C>A	uc003zrg.1	-	1	5413	c.5323G>T	c.(5323-5325)GAT>TAT	p.D1775Y		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1775					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCCAGCATCTTCCTCATCA	0.453		NA											48	47					2.15e-31	2.4e-31	1	0
CCDC107	203260	broad.mit.edu	37	9	35660595	35660595	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:35660595G>C	uc011lox.1	+	4	427	c.361G>C	c.(361-363)GAG>CAG	p.E121Q	RMRP_uc003zxh.1_5'Flank|CCDC107_uc011loy.1_Missense_Mutation_p.E121Q|CCDC107_uc003zxj.2_Missense_Mutation_p.E121Q|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_RNA|C9orf100_uc003zxm.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107 precursor	121	Potential.					integral to membrane					0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCAGACAGAGCAGCACCT	0.527		NA											23	44					0	0	0	0
GLIPR2	152007	broad.mit.edu	37	9	36162499	36162499	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:36162499G>A	uc003zyz.2	+	5	479	c.445G>A	c.(445-447)GTC>ATC	p.V149I	GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	149				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						CGAAGAAAACGTCCTGCCGCC	0.537		NA											29	22					0	0	0	0
ZNF658	26149	broad.mit.edu	37	9	40772752	40772752	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:40772752G>C	uc004abs.2	-	5	2675	c.2523C>G	c.(2521-2523)CTC>CTG	p.L841L	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.L841L	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	841	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTGCACAGAGGTGTGTTC	0.433		NA											15	66					0	0	0	0
ZNF169	169841	broad.mit.edu	37	9	97062208	97062208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:97062208C>A	uc004aum.1	+	5	473	c.368C>A	c.(367-369)TCA>TAA	p.S123*		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TTCCCAAGCTCATCTGCAGGA	0.507		NA											27	22					1.13e-08	1.2e-08	1	0
ZNF462	58499	broad.mit.edu	37	9	109687761	109687761	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:109687761C>G	uc004bcz.2	+	3	1857	c.1568C>G	c.(1567-1569)TCA>TGA	p.S523*	ZNF462_uc010mto.2_Nonsense_Mutation_p.S371*|ZNF462_uc004bda.2_Nonsense_Mutation_p.S371*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	523					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TATGAGAGCTCAAGCATCAAT	0.373		NA											18	17					0	0	0	0
C5	727	broad.mit.edu	37	9	123808549	123808549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:123808549G>C	uc004bkv.2	-	2	208	c.178C>G	c.(178-180)CCT>GCT	p.P60A	C5_uc010mvm.1_Missense_Mutation_p.P60A|C5_uc010mvn.1_Missense_Mutation_p.P60A	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	60					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTTATCAGGATAACTTTTA	0.313		NA											30	21					0	0	0	0
DPP7	29952	broad.mit.edu	37	9	140007428	140007428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:140007428G>A	uc004clh.2	-	7	877	c.847C>T	c.(847-849)CCC>TCC	p.P283S		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	283						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCAGGGAGGGGACCCAGGAAG	0.667		NA											30	12					0	0	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204461	11204461	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:11204461G>C	uc004cup.1	-	5	2041	c.1168C>G	c.(1168-1170)CAA>GAA	p.Q390E	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q390E|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q187E|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q210E|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q212E|ARHGAP6_uc011mif.1_Missense_Mutation_p.Q187E	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	390					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TTTTTACTTTGAGCCTCAGCA	0.453		NA											89	32					0	0	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456555	40456555	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40456555G>C	uc004det.2	+	4	457	c.355G>C	c.(355-357)GAG>CAG	p.E119Q	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E43Q|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	119	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						CTTATTTTCTGAGGAAACTCC	0.323		NA											33	19					0	0	0	0
CXorf38	159013	broad.mit.edu	37	X	40496291	40496291	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40496291C>G	uc004dew.2	-	4	594	c.589G>C	c.(589-591)GAG>CAG	p.E197Q	CXorf38_uc011mko.1_Missense_Mutation_p.E112Q|CXorf38_uc004dev.1_Missense_Mutation_p.E78Q|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	197										ovary(1)	1						GCCACAATCTCTGGGATGTTC	0.368		NA											30	11					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53654387	53654387	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:53654387C>T	uc004dsp.2	-	17	1865	c.1463G>A	c.(1462-1464)GGA>GAA	p.G488E		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	488					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CATTTCCTCTCCTTCTTGTGT	0.378		NA											40	18					0	0	0	0
ARR3	407	broad.mit.edu	37	X	69496305	69496305	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:69496305C>G	uc004dyb.2	+	7	436	c.368C>G	c.(367-369)TCT>TGT	p.S123C	ARR3_uc004dya.2_Missense_Mutation_p.S123C	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	123					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4						CTGCCCTGTTCTGTGACACTG	0.478		NA											27	8					0	0	0	0
GPR112	139378	broad.mit.edu	37	X	135430993	135430993	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:135430993G>A	uc004ezu.1	+	6	5419	c.5128G>A	c.(5128-5130)GAT>AAT	p.D1710N	GPR112_uc010nsb.1_Missense_Mutation_p.D1505N|GPR112_uc010nsc.1_Missense_Mutation_p.D1477N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1710	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATCACAAGCAGATGAGGCTAC	0.438		NA											83	25					0	0	0	0
MECP2	4204	broad.mit.edu	37	X	153296808	153296808	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153296808G>A	uc004fjv.2	-	4	697	c.471C>T	c.(469-471)TTC>TTT	p.F157F	MECP2_uc004fjw.2_Silent_p.F169F	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	157	MBD.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTACCGTGAAGTCAAAAT	0.562		NA											53	12					0	0	0	0
FLNA	2316	broad.mit.edu	37	X	153580937	153580937	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153580937G>A	uc004fkk.2	-	40	6735	c.6486C>T	c.(6484-6486)CTC>CTT	p.L2162L	FLNA_uc004fki.2_Silent_p.L205L|FLNA_uc011mzn.1_Silent_p.L295L|FLNA_uc010nuu.1_Silent_p.L2154L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2162	Filamin 20.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTCAGGCTGAGGTCACAAT	0.637		NA											26	14					0	0	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976891	41976904	+	Frame_Shift_Del	DEL	TGAGCAGGGCCGGG	TGAGCAGGGCCGGG	-	rs147310017		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:41976891_41976904delTGAGCAGGGCCGGG	uc001cgz.3	-	9	7652_7665	c.6439_6452delCCCGGCCCTGCTCA	c.(6439-6453)CCCGGCCCTGCTCATfs	p.P2147fs	HIVEP3_uc001cha.3_Frame_Shift_Del_p.P2146fs|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2147_2151					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAGAGAGGATGAGCAGGGCCGGGTGAGCAGGAG	0.551		NA											13	46	---	---	---	---	NA	NA	NA	NA
CELSR2	1952	broad.mit.edu	37	1	109811620	109811621	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:109811620_109811621delTG	uc001dxa.3	+	19	6682_6683	c.6621_6622delTG	c.(6619-6624)TCTGTCfs	p.S2207fs		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2207_2208	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCTGAGTCTGTCTTCAGAGG	0.599		NA											17	32	---	---	---	---	NA	NA	NA	NA
SIPA1L2	57568	broad.mit.edu	37	1	232649840	232649841	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:232649840_232649841delTC	uc001hvg.2	-	1	1403_1404	c.1245_1246delGA	c.(1243-1248)GAGACTfs	p.E415fs		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	415_416					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCCCTCCAGTCTCATTTCTAA	0.52		NA											73	258	---	---	---	---	NA	NA	NA	NA
E2F8	79733	broad.mit.edu	37	11	19247323	19247332	+	Frame_Shift_Del	DEL	CTTGAGTTTT	CTTGAGTTTT	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:19247323_19247332delCTTGAGTTTT	uc001mpm.2	-	11	2495_2504	c.1973_1982delAAAACTCAAG	c.(1972-1983)GAAAACTCAAGTfs	p.E658fs	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.E658fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	658_661					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GGAAAGAGCACTTGAGTTTTCTTTACCAGA	0.49		NA											43	69	---	---	---	---	NA	NA	NA	NA
TMEM132B	114795	broad.mit.edu	37	12	125834005	125834020	+	Frame_Shift_Del	DEL	GAGTCGAGGGATTGTG	GAGTCGAGGGATTGTG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:125834005_125834020delGAGTCGAGGGATTGTG	uc001uhe.1	+	2	68_83	c.60_75delGAGTCGAGGGATTGTG	c.(58-75)GAGAGTCGAGGGATTGTGfs	p.E20fs		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20_25	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGC	0.472		NA											21	120	---	---	---	---	NA	NA	NA	NA
TNFAIP2	7127	broad.mit.edu	37	14	103592944	103592946	+	In_Frame_Del	DEL	GAA	GAA	-	rs142147196		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:103592944_103592946delGAA	uc001ymm.1	+	1	281_283	c.150_152delGAA	c.(148-153)GGGAAG>GGG	p.K54del	TNFAIP2_uc010awo.1_In_Frame_Del_p.R13del|TNFAIP2_uc010txz.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	54	Lys-rich (basic).				angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			TCACCAAAGGGAAGAAGAAGAAG	0.562		NA											2	4	---	---	---	---	NA	NA	NA	NA
ITGAE	3682	broad.mit.edu	37	17	3658507	3658507	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:3658507delC	uc002fwo.3	-	12	1387	c.1288delG	c.(1288-1290)GCGfs	p.A430fs		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	430	FG-GAP 3.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TAGAGCAACGCCCCTCCGGAC	0.716		NA											5	4	---	---	---	---	NA	NA	NA	NA
ARHGEF1	9138	broad.mit.edu	37	19	42406794	42406803	+	Frame_Shift_Del	DEL	TGTGCCTTCG	TGTGCCTTCG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42406794_42406803delTGTGCCTTCG	uc002orx.2	+	17	1718_1727	c.1609_1618delTGTGCCTTCG	c.(1609-1620)TGTGCCTTCGTGfs	p.C537fs	ARHGEF1_uc002ory.2_Frame_Shift_Del_p.C504fs|ARHGEF1_uc002orz.2_Frame_Shift_Del_p.C375fs|ARHGEF1_uc002osa.2_Frame_Shift_Del_p.C552fs|ARHGEF1_uc002osb.2_Frame_Shift_Del_p.C519fs|ARHGEF1_uc002osc.2_Frame_Shift_Del_p.C291fs|ARHGEF1_uc002osd.2_Frame_Shift_Del_p.C196fs|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	537_540	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCGGTTCTGTGCCTTCGTGCAGGTGAG	0.443		NA											19	43	---	---	---	---	NA	NA	NA	NA
HRC	3270	broad.mit.edu	37	19	49657906	49657907	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657906_49657907insCTG	uc002pmv.2	-	1	775_776	c.588_589insCAG	c.(586-591)insCAG	p.196_197insQ		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	196_197	4 X tandem repeats, acidic.|Glu-rich (acidic).|1-1.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctcctcctcctcctcctctt	0.446		NA											18	70	---	---	---	---	NA	NA	NA	NA
SLC4A4	8671	broad.mit.edu	37	4	72429528	72429529	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:72429528_72429529insA	uc003hfy.2	+	24	3235_3236	c.3118_3119insA	c.(3118-3120)GAAfs	p.E1040fs	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Frame_Shift_Ins_p.E956fs|SLC4A4_uc003hfz.2_Frame_Shift_Ins_p.E1040fs|SLC4A4_uc003hgc.3_Frame_Shift_Ins_p.E996fs|SLC4A4_uc010iid.2_Frame_Shift_Ins_p.E244fs	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	1040	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)			CCCATACTCAGAAAAAGTTCCA	0.381		NA											69	174	---	---	---	---	NA	NA	NA	NA
ACTL6B	51412	broad.mit.edu	37	7	100246206	100246211	+	In_Frame_Del	DEL	GATGTC	GATGTC	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100246206_100246211delGATGTC	uc003uvy.2	-	7	744_749	c.637_642delGACATC	c.(637-642)GACATCdel	p.DI213del	ACTL6B_uc003uvx.1_In_Frame_Del_p.DI4del|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	213_214					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)					AAGGTGGGATGATGTCAATGGCCATC	0.597		NA											9	12	---	---	---	---	NA	NA	NA	NA
MLL5	55904	broad.mit.edu	37	7	104703989	104704002	+	Frame_Shift_Del	DEL	ACATGATGATGGAT	ACATGATGATGGAT	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:104703989_104704002delACATGATGATGGAT	uc003vcm.2	+	5	912_925	c.378_391delACATGATGATGGAT	c.(376-393)ACACATGATGATGGATACfs	p.T126fs	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Frame_Shift_Del_p.T126fs|MLL5_uc003vcl.2_Frame_Shift_Del_p.T126fs|MLL5_uc010ljc.2_Frame_Shift_Del_p.T126fs	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	126_131	PHD-type.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GTGGTTTTACACATGATGATGGATACATGATCTG	0.346		NA											23	79	---	---	---	---	NA	NA	NA	NA
