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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
VWA1	64856	broad.mit.edu	37	1	1374720	1374720	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:1374720G>T	uc001afs.2	+	3	1111	c.891G>T	c.(889-891)CTG>CTT	p.L297L	VWA1_uc001afr.2_Silent_p.L85L	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	297	Fibronectin type-III 1.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCAGATCCTGCGGGTGCGCA	0.766		NaN											1	0	0.004672	0.004672	0.00475046	3	0				
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:16353844C>A	uc001axu.2	+	8	775	c.695C>A	c.(694-696)TCT>TAT	p.S232Y	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.S232Y|CLCNKA_uc010obw.1_Missense_Mutation_p.S189Y|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647		NaN											1	0	3.00167e-28	0.00361	3.47672e-28	57	4				
ECE1	1889	broad.mit.edu	37	1	21582529	21582529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21582529C>G	uc001bek.2	-	8	1006	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	ECE1_uc001bem.2_Missense_Mutation_p.E295Q|ECE1_uc001bej.2_Missense_Mutation_p.E299Q|ECE1_uc001bei.2_Missense_Mutation_p.E308Q|ECE1_uc010odl.1_Missense_Mutation_p.E311Q|ECE1_uc009vqa.1_Missense_Mutation_p.E311Q	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	311	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTGCCGTCTCAAAGTCCAAG	0.602		NaN											0	0	0	0.010771	0	36	8				
NBPF3	84224	broad.mit.edu	37	1	21795335	21795335	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795335G>T	uc001ber.2	+	3	638	c.288G>T	c.(286-288)CAG>CAT	p.Q96H	NBPF3_uc001bes.2_Missense_Mutation_p.Q40H|NBPF3_uc009vqb.2_Missense_Mutation_p.Q96H|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	96						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTCAAACAGAAATGTCTTG	0.458		NaN									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.5997e-14	0.002299	3.9692e-14	16	0				
NBPF3	84224	broad.mit.edu	37	1	21795351	21795351	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795351C>G	uc001ber.2	+	3	654	c.304C>G	c.(304-306)CAA>GAA	p.Q102E	NBPF3_uc001bes.2_Missense_Mutation_p.Q46E|NBPF3_uc009vqb.2_Missense_Mutation_p.Q102E|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	102						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTTGTAACTCAAGTGGCCTA	0.453		NaN									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	10	0				
FGR	2268	broad.mit.edu	37	1	27949568	27949568	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:27949568T>C	uc001boj.2	-	2	460	c.314A>G	c.(313-315)CAC>CGC	p.H105R	FGR_uc001bok.2_Missense_Mutation_p.H105R|FGR_uc001bol.2_Missense_Mutation_p.H105R|FGR_uc001bom.2_Missense_Mutation_p.H105R	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	105	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCAGGATGTGGAACTTCTC	0.383		NaN											0	0	0	0.00361	0	38	0				
CSMD2	114784	broad.mit.edu	37	1	34083156	34083156	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:34083156C>A	uc001bxn.1	-	38	5798	c.5769G>T	c.(5767-5769)GAG>GAT	p.E1923D	CSMD2_uc001bxm.1_Missense_Mutation_p.E1963D|CSMD2_uc001bxo.1_Missense_Mutation_p.E836D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	Sushi 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAAGTAGCGCTCGCCAGTCT	0.567		NaN											1	0	4.3181e-19	0.002836	4.9076e-19	30	1				
THRAP3	9967	broad.mit.edu	37	1	36769407	36769407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:36769407G>A	uc001cae.3	+	12	2881	c.2657G>A	c.(2656-2658)CGT>CAT	p.R886H	THRAP3_uc001caf.3_Missense_Mutation_p.R886H|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	886					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATGATGACCGTGAAGGCGAA	0.587		NaN	T	USP6	aneurysmal bone cysts								0	0	0	0.00361	0	68	8				
MACF1	23499	broad.mit.edu	37	1	39800781	39800781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:39800781G>T	uc010oiu.1	+	1	3972	c.3841G>T	c.(3841-3843)GAA>TAA	p.E1281*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2846					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)			AAAGAGCAGGGAAATTTCCTT	0.363		NaN											1	0	1.33834e-09	0.007413	1.42385e-09	16	3				
NT5C1A	84618	broad.mit.edu	37	1	40131301	40131301	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:40131301G>A	uc001cdq.1	-	3	325	c.325C>T	c.(325-327)CGG>TGG	p.R109W		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	109					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCCGCAGCCGCCTGTTCACG	0.562		NaN											0	0	0	0.003271	0	27	1				
RNF11	26994	broad.mit.edu	37	1	51702486	51702486	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:51702486C>G	uc001csi.3	+	1	542	c.58C>G	c.(58-60)CAG>GAG	p.Q20E		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	20					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						TCACGAGTCTCAGTCCGACCG	0.637		NaN											0	0	0	0.004878	0	33	2				
MRPL37	51253	broad.mit.edu	37	1	54670971	54670971	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:54670971G>A	uc001cxa.3	+	3	611	c.534G>A	c.(532-534)CCG>CCA	p.P178P	MRPL37_uc009vzp.2_Intron|MRPL37_uc001cxb.1_Silent_p.P178P|MRPL37_uc001cxc.3_5'UTR|MRPL37_uc010oob.1_RNA	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37 precursor	178					translation	mitochondrial ribosome	structural constituent of ribosome				0						CTTCAAGCCCGGTCATCGTGG	0.448		NaN											0	0	0	0.00499	0	16	3				
C1orf173	127254	broad.mit.edu	37	1	75039034	75039034	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:75039034T>A	uc001dgg.2	-	14	2579	c.2360A>T	c.(2359-2361)GAC>GTC	p.D787V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	787	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CTGTACTATGTCAGCATCTCT	0.517		NaN											0	0	0	0.00361	0	60	2				
LRRC8D	55144	broad.mit.edu	37	1	90398656	90398656	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:90398656T>A	uc001dnm.2	+	3	454	c.29T>A	c.(28-30)CTT>CAT	p.L10H	LRRC8D_uc001dnn.2_Missense_Mutation_p.L10H	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	10						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTGCATCACTTAATGACATT	0.378		NaN											0	0	0	0.004482	0	5	46				
ZNF644	84146	broad.mit.edu	37	1	91404364	91404364	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91404364C>G	uc001dnw.2	-	3	2689	c.2547G>C	c.(2545-2547)AAG>AAC	p.K849N	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.K849N	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AACTATCTTTCTTTTCAGCAG	0.358		NaN											0	0	0	0.001368	0	10	3				
HFM1	164045	broad.mit.edu	37	1	91784664	91784664	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91784664A>G	uc001doa.3	-	25	2883	c.2783T>C	c.(2782-2784)CTG>CCG	p.L928P	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.L607P|HFM1_uc001dob.3_Intron|HFM1_uc010osv.1_Missense_Mutation_p.L612P	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	928	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGATACATGCAGAGAGTTTTC	0.338		NaN											0	0	0	0.007291	0	20	5				
NTNG1	22854	broad.mit.edu	37	1	107979293	107979293	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:107979293A>T	uc001dvh.3	+	7	1980	c.1262A>T	c.(1261-1263)TAT>TTT	p.Y421F	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Missense_Mutation_p.Y387F|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	421	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGAGTGTTATTGTAACCCT	0.453		NaN											0	0	0	0.008871	0	15	18				
PTPN22	26191	broad.mit.edu	37	1	114380599	114380599	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:114380599G>C	uc001eds.2	-	13	1553	c.1423C>G	c.(1423-1425)CAA>GAA	p.Q475E	PTPN22_uc009wgq.2_Missense_Mutation_p.Q420E|PTPN22_uc010owo.1_Missense_Mutation_p.Q231E|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q475E|PTPN22_uc009wgs.2_Missense_Mutation_p.Q348E|PTPN22_uc001edu.2_Missense_Mutation_p.Q475E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	475					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		TCATGTGGTTGAGATTCCAAA	0.393		NaN											0	0	0	0.00874	0	34	2				
PDE4DIP	9659	broad.mit.edu	37	1	144864173	144864173	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144864173G>A	uc001elw.3	-	36	6213	c.5922C>T	c.(5920-5922)TTC>TTT	p.F1974F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1868F|PDE4DIP_uc001elv.3_Silent_p.F981F|PDE4DIP_uc001ema.2_Silent_p.F161F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1974	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCCTCCCTGAAATGCAAGA	0.458		NaN	T	PDGFRB	MPD								0	0	0	0.006214	0	8	321				
PDE4DIP	9659	broad.mit.edu	37	1	144877097	144877097	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144877097G>A	uc001elw.3	-	28	4881	c.4590C>T	c.(4588-4590)TTC>TTT	p.F1530F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1486F|PDE4DIP_uc001elv.3_Silent_p.F537F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1530					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGCTCCCGGAAGCTCTGTC	0.493		NaN	T	PDGFRB	MPD								0	0	0	0.010729	0	10	13				
NBPF10	100132406	broad.mit.edu	37	1	146399628	146399628	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:146399628G>T	uc001emp.3	+	14	2577	c.1379_splice	c.e14+1	p.R460_splice	uc010ozk.1_Splice_Site	NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCCCCCAGGTAACACTGAA	0.418		NaN											1	0	2.79145e-41	0.00361	3.29629e-41	40	485				
TARS2	80222	broad.mit.edu	37	1	150478109	150478109	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:150478109G>C	uc001euq.2	+	17	1943	c.1936G>C	c.(1936-1938)GAT>CAT	p.D646H	TARS2_uc001eur.2_Missense_Mutation_p.D564H|TARS2_uc009wlt.2_Missense_Mutation_p.D272H|TARS2_uc009wls.2_Missense_Mutation_p.D516H|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	646					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGTGACCTGGATGCAGACTC	0.532		NaN											0	0	0	0.00361	0	40	185				
PRUNE	58497	broad.mit.edu	37	1	151006538	151006538	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:151006538G>A	uc001ewh.1	+	8	1326	c.1190G>A	c.(1189-1191)GGA>GAA	p.G397E	PRUNE_uc001ewi.1_Missense_Mutation_p.G215D|PRUNE_uc010pco.1_Missense_Mutation_p.G165D|PRUNE_uc001ewj.1_Missense_Mutation_p.G112D|PRUNE_uc001ewk.1_Missense_Mutation_p.G162D|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	397	Essential for homodimerization.					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGATTTCTGGCCTGAGTCAA	0.562		NaN											0	0	0	0.002299	0	18	102				
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:152328035A>C	uc001ezw.3	-	3	2300	c.2227T>G	c.(2227-2229)TCT>GCT	p.S743A	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507		NaN											0	0	0	0.008291	0	11	621				
CRTC2	200186	broad.mit.edu	37	1	153921785	153921785	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153921785C>G	uc010ped.1	-	12	1550	c.1480G>C	c.(1480-1482)GTT>CTT	p.V494L	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.V30L	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	494					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)			GTAGGCAGAACCAGACTTGGG	0.582		NaN											0	0	0	0.010504	0	16	119				
NUP210L	91181	broad.mit.edu	37	1	153998045	153998045	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153998045G>A	uc001fdw.2	-	30	4167	c.4095C>T	c.(4093-4095)GTC>GTT	p.V1365V	NUP210L_uc009woq.2_Silent_p.V274V|NUP210L_uc010peh.1_Silent_p.V1365V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1365						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTTTGGTTGACTCCAAAAG	0.413		NaN											0	0	0	0.00361	0	113	50				
PYGO2	90780	broad.mit.edu	37	1	154932130	154932130	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:154932130G>A	uc001fft.2	-	3	552	c.346C>T	c.(346-348)CCA>TCA	p.P116S		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	116	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTAGCCTGGGGGTACCTGG	0.682		NaN											0	0	0	0.004007	0	12	2				
ADAM15	8751	broad.mit.edu	37	1	155030787	155030787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:155030787G>A	uc001fgr.1	+	15	1888	c.1787G>A	c.(1786-1788)CGG>CAG	p.R596Q	ADAM15_uc001fgq.1_Missense_Mutation_p.R281Q|ADAM15_uc010pet.1_Missense_Mutation_p.R580Q|ADAM15_uc010peu.1_Missense_Mutation_p.R613Q|ADAM15_uc001fgt.1_Missense_Mutation_p.R596Q|ADAM15_uc010pev.1_Missense_Mutation_p.R606Q|ADAM15_uc001fgs.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgu.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgw.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgv.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgx.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	596	Extracellular (Potential).|Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCTCCATCCGGGATCTACTC	0.597		NaN											0	0	0	0.007413	0	13	65				
NES	10763	broad.mit.edu	37	1	156640230	156640230	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:156640230C>T	uc001fpq.2	-	4	3883	c.3750G>A	c.(3748-3750)CAG>CAA	p.Q1250Q		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1250	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCCTCCCCTGCACCCCCC	0.662		NaN											0	0	0	0.00361	0	49	216				
OR10R2	343406	broad.mit.edu	37	1	158450082	158450082	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158450082G>C	uc010pik.1	+	1	415	c.415G>C	c.(415-417)GGT>CGT	p.G139R	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	139	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GGGTGTGATGGGTTATGATCG	0.488		NaN											0	0	0	0.00361	0	341	134				
OR6N2	81442	broad.mit.edu	37	1	158747267	158747267	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158747267T>C	uc010pir.1	-	1	159	c.159A>G	c.(157-159)GCA>GCG	p.A53A		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TGTGCAGAGCTGCATCCAGTC	0.463		NaN											0	0	0	0.00361	0	174	58				
CADM3	57863	broad.mit.edu	37	1	159166685	159166685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159166685C>T	uc001ftl.2	+	7	929	c.787C>T	c.(787-789)CAG>TAG	p.Q263*	CADM3_uc009wsy.1_Nonsense_Mutation_p.Q217*|CADM3_uc001ftk.2_Nonsense_Mutation_p.Q297*|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	263	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CGACAGCCCCCAGCAGTACCT	0.527		NaN											0	0	0	0.00361	0	92	30				
CRP	1401	broad.mit.edu	37	1	159683378	159683378	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159683378G>A	uc001ftw.2	-	2	716	c.612C>T	c.(610-612)AAC>AAT	p.N204N	CRP_uc001ftx.1_Silent_p.N71N|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	204	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTGCCCGCCAGTTCAGGACAT	0.532		NaN											0	0	0	0.012319	0	20	120				
NCSTN	23385	broad.mit.edu	37	1	160326392	160326392	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160326392G>T	uc001fvx.2	+	15	1766	c.1642G>T	c.(1642-1644)GAC>TAC	p.D548Y	NCSTN_uc001fvy.2_Missense_Mutation_p.D528Y|NCSTN_uc010pjf.1_Missense_Mutation_p.D410Y|NCSTN_uc001fvz.2_Missense_Mutation_p.D328Y|NCSTN_uc010pjg.1_Missense_Mutation_p.D290Y	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	548	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCAGGTGACGGGCCTCT	0.512		NaN											1	0	2.93687e-30	0.00361	3.4315e-30	48	251				
SLAMF6	114836	broad.mit.edu	37	1	160466111	160466111	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160466111G>A	uc001fwe.1	-	2	182	c.122C>T	c.(121-123)CCC>CTC	p.P41L	SLAMF6_uc001fwd.1_Missense_Mutation_p.P41L|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	41	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAACTCCAGGGGAAGAGTTAC	0.438		NaN											0	0	0	0.00361	0	47	412				
NDUFS2	4720	broad.mit.edu	37	1	161176202	161176202	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:161176202G>A	uc001fyv.2	+	4	656	c.208G>A	c.(208-210)GAC>AAC	p.D70N	NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.D70N|NDUFS2_uc010pkj.1_Missense_Mutation_p.D19N|NDUFS2_uc001fyx.2_Missense_Mutation_p.D70N|NDUFS2_uc001fyy.1_Missense_Mutation_p.D19N	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	70					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)	CTCAGATGTGGACCCTCCAAA	0.473		NaN											0	0	0	0.004007	0	12	98				
RXRG	6258	broad.mit.edu	37	1	165414106	165414106	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165414106T>C	uc001gda.2	-	1	325	c.25A>G	c.(25-27)ATG>GTG	p.M9V	RXRG_uc001gdb.1_Missense_Mutation_p.M9V	NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	9	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGAAACTTCATGAAGTGAGAA	0.473		NaN											0	0	0	0.00361	0	51	108				
LRRC52	440699	broad.mit.edu	37	1	165532930	165532930	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165532930G>C	uc001gde.2	+	2	867	c.811G>C	c.(811-813)GTG>CTG	p.V271L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	271	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGTGTGTGCTGTGCTCTACCA	0.582		NaN											0	0	0	0.001368	0	12	95				
ILDR2	387597	broad.mit.edu	37	1	166891923	166891923	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:166891923T>C	uc001gdx.1	-	8	1174	c.1118A>G	c.(1117-1119)TAT>TGT	p.Y373C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	373	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						ACCTGACCAATAGTCAGGATT	0.552		NaN											0	0	0	0.00361	0	313	252				
CD247	919	broad.mit.edu	37	1	167487650	167487650	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167487650A>T	uc001gei.3	-	1	198	c.53T>A	c.(52-54)ATT>AAT	p.I18N	CD247_uc001gej.3_Missense_Mutation_p.I18N|CD247_uc001gek.2_Missense_Mutation_p.I18N	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	18					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			CCTACCTGTAATCGGCAACTG	0.587		NaN											0	0	0	0.002299	0	15	145				
DCAF6	55827	broad.mit.edu	37	1	167962475	167962475	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167962475G>A	uc001gew.2	+	7	942	c.700G>A	c.(700-702)GGT>AGT	p.G234S	DCAF6_uc001gev.2_Missense_Mutation_p.G234S|DCAF6_uc001gex.2_Missense_Mutation_p.G234S|DCAF6_uc010plk.1_Missense_Mutation_p.G203S|DCAF6_uc001gey.2_Missense_Mutation_p.G87S	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	234					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						GAATTATGCAGGTCGAGGGAC	0.303		NaN											0	0	0	0.00361	0	44	57				
FMO2	2327	broad.mit.edu	37	1	171162616	171162616	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:171162616G>A	uc001ghk.1	+	3	392	c.275G>A	c.(274-276)AGG>AAG	p.R92K	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	92					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAATATTTCAGGATTTTTGCT	0.343		NaN											0	0	0	0.00308	0	7	58				
TNN	63923	broad.mit.edu	37	1	175086217	175086217	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:175086217G>A	uc001gkl.1	+	10	2375	c.2262G>A	c.(2260-2262)CCG>CCA	p.P754P		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	754	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGTTCCGGTGGGGAAGG	0.637		NaN											0	0	0	0.001855	0	5	146				
KIF14	9928	broad.mit.edu	37	1	200558410	200558410	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:200558410G>T	uc010ppk.1	-	18	3488	c.3049C>A	c.(3049-3051)CAT>AAT	p.H1017N	KIF14_uc010ppj.1_Missense_Mutation_p.H526N	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1017	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TGTTCAAGATGCTGCTTTGCC	0.323		NaN											1	0	6.49762e-13	0.006122	7.09412e-13	16	33				
GOLT1A	127845	broad.mit.edu	37	1	204170901	204170901	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:204170901C>T	uc001has.1	-	3	342	c.156G>A	c.(154-156)CTG>CTA	p.L52L	GOLT1A_uc001hat.1_Silent_p.L52L	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	golgi transport 1 homolog A	52	Helical; Name=2; (Potential).				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane					0	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGTCTTCCTCAGGCCAATGA	0.592		NaN											0	0	0	0.00361	0	66	24				
MFSD4	148808	broad.mit.edu	37	1	205561360	205561360	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:205561360C>T	uc001hcv.3	+	7	1328	c.1242C>T	c.(1240-1242)CTC>CTT	p.L414L	MFSD4_uc010prk.1_Silent_p.L327L|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.L359L|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	414	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCTGTTTCTCAGCAGCACCT	0.622		NaN									OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	35	13				
SRGAP2	23380	broad.mit.edu	37	1	206566186	206566186	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:206566186C>T	uc001hdy.2	+	3	699	c.366C>T	c.(364-366)TCC>TCT	p.S122S	SRGAP2_uc009xbt.2_Silent_p.S46S|SRGAP2_uc010prt.1_Silent_p.S46S|SRGAP2_uc001hdx.2_Silent_p.S122S|SRGAP2_uc010pru.1_Silent_p.S46S|SRGAP2_uc010prv.1_Silent_p.S46S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	209					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					CCCCTGACTCCACGGCCAACG	0.532		NaN											0	0	0	0.000602	0	3	39				
TRAF3IP3	80342	broad.mit.edu	37	1	209935923	209935923	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:209935923G>T	uc001hho.2	+	4	699	c.409G>T	c.(409-411)GAT>TAT	p.D137Y	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.D137Y|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.D137Y	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	137	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CATCTGCAGGGATCTGTCTGA	0.587		NaN											1	0	7.38237e-10	0.00632	7.86665e-10	20	5				
ESRRG	2104	broad.mit.edu	37	1	216737663	216737663	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:216737663C>T	uc001hkw.1	-	5	926	c.760G>A	c.(760-762)GAC>AAC	p.D254N	ESRRG_uc001hky.1_Missense_Mutation_p.D231N|ESRRG_uc009xdp.1_Missense_Mutation_p.D231N|ESRRG_uc001hkz.1_Missense_Mutation_p.D192N|ESRRG_uc010puc.1_Missense_Mutation_p.D231N|ESRRG_uc001hla.1_Missense_Mutation_p.D231N|ESRRG_uc001hlb.1_Missense_Mutation_p.D231N|ESRRG_uc010pud.1_Missense_Mutation_p.D62N|ESRRG_uc001hlc.1_Missense_Mutation_p.D231N|ESRRG_uc001hld.1_Missense_Mutation_p.D231N|ESRRG_uc001hkx.1_Missense_Mutation_p.D266N|ESRRG_uc009xdo.1_Missense_Mutation_p.D231N|ESRRG_uc001hle.1_Missense_Mutation_p.D231N	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	254					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACAGTAGGGTCAGGCATGGCA	0.493		NaN											0	0	0	0.011902	0	37	4				
LYST	1130	broad.mit.edu	37	1	235964228	235964228	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:235964228C>T	uc001hxj.2	-	9	4057	c.3882G>A	c.(3880-3882)GAG>GAA	p.E1294E	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.E1294E	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1294					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAAAAAACTCTCAAATACAT	0.313		NaN							Chediak-Higashi_syndrome				0	0	0	0.001984	0	7	23				
MTR	4548	broad.mit.edu	37	1	237016251	237016251	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:237016251G>A	uc001hyi.3	+	18	2239	c.1816G>A	c.(1816-1818)GGC>AGC	p.G606S	MTR_uc010pxw.1_Missense_Mutation_p.G199S|MTR_uc010pxx.1_Missense_Mutation_p.G606S|MTR_uc010pxy.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	606	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCCTTAGTCTGGCATGGACAT	0.299		NaN											0	0	0	0.004656	0	18	67				
CHRM3	1131	broad.mit.edu	37	1	240072203	240072203	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072203C>G	uc001hyp.2	+	5	2231	c.1452C>G	c.(1450-1452)GTC>GTG	p.V484V		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	484	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGTCCCTGGTCAAGGAGAAGA	0.517		NaN											0	0	0	0.002299	0	19	77				
CHRM3	1131	broad.mit.edu	37	1	240072271	240072271	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072271A>T	uc001hyp.2	+	5	2299	c.1520A>T	c.(1519-1521)TAC>TTC	p.Y507F		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	507	Helical; Name=6; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGACCCCATACAACATCATG	0.502		NaN											0	0	0	0.011902	0	33	106				
OR6F1	343169	broad.mit.edu	37	1	247875858	247875858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875858G>T	uc001idj.1	-	1	200	c.200C>A	c.(199-201)TCC>TAC	p.S67Y		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	67	Helical; Name=2; (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;0.0168)			CTCCAGGAAGGAGAGGTTGCT	0.478		NaN											1	0	1.76689e-08	0.006214	1.85901e-08	8	65				
OR2T10	127069	broad.mit.edu	37	1	248756394	248756394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:248756394G>C	uc010pzn.1	-	1	676	c.676C>G	c.(676-678)CAT>GAT	p.H226D		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCATCTTATGGATGGTGAGG	0.443		NaN											0	0	0	0.00632	0	22	78				
FBXO18	84893	broad.mit.edu	37	10	5951204	5951204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:5951204G>A	uc001iis.2	+	5	1062	c.967G>A	c.(967-969)GAG>AAG	p.E323K	FBXO18_uc001iir.2_Missense_Mutation_p.E249K|FBXO18_uc009xig.2_Missense_Mutation_p.E249K|FBXO18_uc001iit.2_Missense_Mutation_p.E374K	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	323					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CCTCCTCCCCGAGGCTGAGGC	0.617		NaN											0	0	0	0.00361	0	50	22				
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:13481367G>A	uc001imm.2	-	9	1509	c.1212C>T	c.(1210-1212)CTC>CTT	p.L404L	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	455							protein binding			ovary(1)|breast(1)	2						TCAGGAGCACGAGATGCTGCT	0.493		NaN											0	0	0	0.00245	0	13	41				
FAM188A	80013	broad.mit.edu	37	10	15875631	15875631	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:15875631A>G	uc001iod.1	-	8	949	c.728T>C	c.(727-729)ATG>ACG	p.M243T	FAM188A_uc001ioe.1_Missense_Mutation_p.M70T|FAM188A_uc001iof.1_Missense_Mutation_p.M243T	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	243					apoptosis	nucleus	calcium ion binding			ovary(1)	1						ATACTTACTCATTCCTGAGCA	0.249		NaN											0	0	0	0.00361	0	49	25				
ABI1	10006	broad.mit.edu	37	10	27052865	27052865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:27052865G>T	uc001isx.2	-	8	1012	c.845C>A	c.(844-846)TCT>TAT	p.S282Y	ABI1_uc001ite.2_Intron|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Intron|ABI1_uc001ita.2_Intron|ABI1_uc001isz.2_Intron|ABI1_uc001itb.2_Missense_Mutation_p.S299Y|ABI1_uc001itc.2_Intron|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Intron|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Intron	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	282	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						TGGAGCTCCAGAAGGAGGAGG	0.413		NaN											1	0	2.98393e-07	0.00278	3.11978e-07	21	41				
ARHGAP12	94134	broad.mit.edu	37	10	32197606	32197606	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:32197606T>C	uc001ivz.1	-	3	448	c.178A>G	c.(178-180)AAA>GAA	p.K60E	ARHGAP12_uc001ivy.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xls.2_Missense_Mutation_p.K58E|ARHGAP12_uc001iwb.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwc.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlq.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwd.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlr.1_Missense_Mutation_p.K58E	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	60	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TAAAACGCTTTGGAGTTTTCA	0.468		NaN											0	0	0	0.008291	0	10	6				
ITGB1	3688	broad.mit.edu	37	10	33211203	33211203	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:33211203C>T	uc001iws.3	-	9	1246	c.1110G>A	c.(1108-1110)TTG>TTA	p.L370L	ITGB1_uc001iwp.3_Silent_p.L370L|ITGB1_uc001iwq.3_Silent_p.L370L|ITGB1_uc001iwr.3_Silent_p.L370L|ITGB1_uc001iwt.3_Silent_p.L370L|ITGB1_uc001iwu.1_Silent_p.L370L	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	370	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CATCAATGATCAACTGAATTA	0.323		NaN											0	0	0	0.00623	0	28	84				
SLC18A3	6572	broad.mit.edu	37	10	50820268	50820268	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:50820268C>T	uc001jhw.2	+	1	1922	c.1482C>T	c.(1480-1482)TAC>TAT	p.Y494Y	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	494	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						AAGGTCTGTACGATGCGGTGC	0.647		NaN											0	0	0	0.010504	0	17	25				
PCDH15	65217	broad.mit.edu	37	10	55782693	55782693	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:55782693C>T	uc001jju.1	-	19	2880	c.2485G>A	c.(2485-2487)GAA>AAA	p.E829K	PCDH15_uc010qhq.1_Missense_Mutation_p.E834K|PCDH15_uc010qhr.1_Missense_Mutation_p.E829K|PCDH15_uc010qhs.1_Missense_Mutation_p.E841K|PCDH15_uc010qht.1_Missense_Mutation_p.E836K|PCDH15_uc010qhu.1_Missense_Mutation_p.E829K|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E829K|PCDH15_uc010qhw.1_Missense_Mutation_p.E792K|PCDH15_uc010qhx.1_Missense_Mutation_p.E758K|PCDH15_uc010qhy.1_Missense_Mutation_p.E834K|PCDH15_uc010qhz.1_Missense_Mutation_p.E829K|PCDH15_uc010qia.1_Missense_Mutation_p.E807K|PCDH15_uc010qib.1_Missense_Mutation_p.E807K|PCDH15_uc001jjw.2_Missense_Mutation_p.E829K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	829	Extracellular (Potential).|Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AAATTCTCTTCAACAAGGACA	0.393		NaN								HNSCC(58;0.16)			0	0	0	0.00361	0	99	5				
DNA2	1763	broad.mit.edu	37	10	70206090	70206090	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:70206090C>T	uc001jof.2	-	7	1278	c.1278G>A	c.(1276-1278)CAG>CAA	p.Q426Q	DNA2_uc001jog.1_Silent_p.Q340Q|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	340					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						CAGGGTACATCTGACCAGTCT	0.453		NaN											0	0	0	0.001168	0	5	4				
TSPAN14	81619	broad.mit.edu	37	10	82269119	82269119	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:82269119G>A	uc001kcj.3	+	5	449	c.342G>A	c.(340-342)CTG>CTA	p.L114L	TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.L97L	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	114						integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)			TGGCCTTCCTGTTCCAGGACT	0.592		NaN											0	0	0	0.00278	0	20	16				
PDCD4	27250	broad.mit.edu	37	10	112650398	112650398	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:112650398G>C	uc001kzh.2	+	8	1203	c.960G>C	c.(958-960)GGG>GGC	p.G320G	PDCD4_uc001kzg.2_Silent_p.G309G|PDCD4_uc010qre.1_Silent_p.G306G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	320					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGAGGTGGGCAGCAATCTG	0.398		NaN											0	0	0	0.00278	0	15	25				
PNLIP	5406	broad.mit.edu	37	10	118327270	118327270	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118327270C>T	uc001lcm.2	+	13	1401	c.1358C>T	c.(1357-1359)ACC>ATC	p.T453I		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	453	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGTCCAGAAACCGTCAGGGAG	0.433		NaN											0	0	0	0.004878	0	27	3				
PNLIPRP1	5407	broad.mit.edu	37	10	118352009	118352009	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118352009T>A	uc001lco.1	+	4	304	c.286T>A	c.(286-288)TTC>ATC	p.F96I	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.F96I|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.F96I|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	96					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		CATCCATGGCTTCATAGACAA	0.488		NaN											0	0	0	0.00361	0	49	3				
EIF3A	8661	broad.mit.edu	37	10	120802195	120802195	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:120802195C>G	uc001ldu.2	-	19	2983	c.2837G>C	c.(2836-2838)AGA>ACA	p.R946T	EIF3A_uc010qsu.1_Missense_Mutation_p.R912T|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	946	3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGGGCTCTCTATCTTCATC	0.567		NaN											0	0	0	0.00361	0	84	2				
DMBT1	1755	broad.mit.edu	37	10	124357509	124357509	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:124357509C>G	uc001lgk.1	+	25	3043	c.2937C>G	c.(2935-2937)ACC>ACG	p.T979T	DMBT1_uc001lgl.1_Silent_p.T969T|DMBT1_uc001lgm.1_Silent_p.T480T|DMBT1_uc009xzz.1_Silent_p.T979T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	979					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGACCATCACCTTGCCTGCAT	0.453		NaN											0	0	0	0.00361	0	122	5				
OR51G2	81282	broad.mit.edu	37	11	4936589	4936589	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:4936589C>T	uc001lzr.1	-	1	305	c.305G>A	c.(304-306)TGC>TAC	p.C102Y		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGCAAAGCAGGCATCATG	0.522		NaN											0	0	0	0.009096	0	4	11				
OR52E6	390078	broad.mit.edu	37	11	5863035	5863035	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:5863035G>C	uc010qzq.1	-	1	93	c.93C>G	c.(91-93)TTC>TTG	p.F31L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAAGGGAATCCAATCC	0.458		NaN											0	0	0	0.012319	0	13	35				
IPO7	10527	broad.mit.edu	37	11	9450663	9450663	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:9450663G>A	uc001mho.2	+	14	1653	c.1511G>A	c.(1510-1512)TGT>TAT	p.C504Y		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	504					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAAGAAGATGTCTGATTGAT	0.378		NaN											0	0	0	0.005443	0	18	4				
DKK3	27122	broad.mit.edu	37	11	11987391	11987391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:11987391G>T	uc001mju.2	-	6	852	c.795C>A	c.(793-795)TGC>TGA	p.C265*	DKK3_uc010rcf.1_Nonsense_Mutation_p.C237*|DKK3_uc001mjv.2_Nonsense_Mutation_p.C265*|DKK3_uc001mjw.2_Nonsense_Mutation_p.C265*|DKK3_uc010rcg.1_Nonsense_Mutation_p.C265*	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	265	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TGGCACAAGGGCATCGGTCCA	0.672		NaN											1	0	1.75199e-13	0.007291	1.91912e-13	21	1				
DKK3	27122	broad.mit.edu	37	11	12020244	12020244	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12020244T>A	uc001mju.2	-	3	491	c.434A>T	c.(433-435)CAC>CTC	p.H145L	DKK3_uc010rcf.1_Intron|DKK3_uc001mjv.2_Missense_Mutation_p.H145L|DKK3_uc001mjw.2_Missense_Mutation_p.H145L|DKK3_uc010rcg.1_Missense_Mutation_p.H145L	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	145					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		ACAACTTACGTGGCTCCTTCT	0.473		NaN											0	0	0	0.003755	0	32	1				
MICAL2	9645	broad.mit.edu	37	11	12247859	12247859	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12247859G>A	uc001mjz.2	+	14	2118	c.1830G>A	c.(1828-1830)ATG>ATA	p.M610I	MICAL2_uc010rch.1_Missense_Mutation_p.M610I|MICAL2_uc001mka.2_Missense_Mutation_p.M610I|MICAL2_uc010rci.1_Missense_Mutation_p.M610I|MICAL2_uc001mkb.2_Missense_Mutation_p.M610I|MICAL2_uc001mkc.2_Missense_Mutation_p.M610I|MICAL2_uc001mkd.2_Missense_Mutation_p.M439I|MICAL2_uc010rcj.1_Missense_Mutation_p.M12I	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	610	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AGCTCAGCATGGTCATGTACC	0.582		NaN											0	0	0	0.00361	0	47	7				
PDE3B	5140	broad.mit.edu	37	11	14856593	14856593	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:14856593C>T	uc001mln.2	+	11	2625	c.2272C>T	c.(2272-2274)CCT>TCT	p.P758S	PDE3B_uc010rcr.1_Missense_Mutation_p.P707S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	758	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						ACGGCCAGTTCCTGGCTTACA	0.383		NaN											0	0	0	0.00361	0	41	40				
LDHC	3948	broad.mit.edu	37	11	18434294	18434294	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:18434294G>A	uc001mon.3	+	2	142	c.30G>A	c.(28-30)GAG>GAA	p.E10E	LDHC_uc001mom.3_Silent_p.E10E|LDHC_uc009yhp.2_Silent_p.E10E|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	10					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	AGCTAATTGAGAAGCTAATTG	0.393		NaN											0	0	0	0.00245	0	12	52				
NELL1	4745	broad.mit.edu	37	11	20940866	20940866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:20940866A>T	uc001mqe.2	+	7	898	c.745A>T	c.(745-747)AAG>TAG	p.K249*	NELL1_uc001mqf.2_Nonsense_Mutation_p.K249*|NELL1_uc009yid.2_Nonsense_Mutation_p.K277*|NELL1_uc010rdo.1_Nonsense_Mutation_p.K192*|NELL1_uc010rdp.1_Nonsense_Mutation_p.K9*	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	249					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GCTTTTGGCCAAGATGACTGC	0.318		NaN											0	0	0	0.003271	0	26	40				
CCDC73	493860	broad.mit.edu	37	11	32781668	32781668	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:32781668A>T	uc001mtv.2	-	2	166	c.122T>A	c.(121-123)TTG>TAG	p.L41*	CCDC73_uc001mtw.1_Nonsense_Mutation_p.L41*|CCDC73_uc009yjt.2_Nonsense_Mutation_p.L41*	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	41										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TCTCATACGCAATTCTTCTAA	0.289		NaN											0	0	0	0.001168	0	5	111				
HIPK3	10114	broad.mit.edu	37	11	33370305	33370305	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:33370305C>T	uc001mul.1	+	13	2877	c.2607C>T	c.(2605-2607)GTC>GTT	p.V869V	HIPK3_uc001mum.1_Silent_p.V848V|HIPK3_uc009yjv.1_Silent_p.V848V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	869	SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity).				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						CAGTGAGTGTCATCACTATCA	0.473		NaN											0	0	0	0.00361	0	56	84				
ABTB2	25841	broad.mit.edu	37	11	34226117	34226117	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:34226117G>A	uc001mvl.1	-	2	676	c.446C>T	c.(445-447)ACC>ATC	p.T149I		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	149							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCCCACGCAGGTGGCCAGGAG	0.642		NaN											0	0	0	0.00361	0	36	33				
LRRC4C	57689	broad.mit.edu	37	11	40136115	40136115	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:40136115C>A	uc001mxa.1	-	2	3692	c.1728G>T	c.(1726-1728)ACG>ACT	p.T576T	LRRC4C_uc001mxc.1_Silent_p.T572T|LRRC4C_uc001mxd.1_Silent_p.T572T|LRRC4C_uc001mxb.1_Silent_p.T572T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	576					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGTCTCCCGTAATCTCAT	0.458		NaN											1	0	1.42923e-14	0.00361	1.58117e-14	44	59				
EXT2	2132	broad.mit.edu	37	11	44255775	44255775	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:44255775G>T	uc001mxz.2	+	12	2251	c.1917G>T	c.(1915-1917)ACG>ACT	p.T639T	EXT2_uc010rfo.1_Silent_p.T667T|EXT2_uc001mxy.2_Silent_p.T652T|EXT2_uc009ykt.2_Silent_p.T649T|EXT2_uc001mya.2_Silent_p.T672T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	639	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CCAACGTCACGGGAAAAGCAG	0.284		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				1	0	8.24728e-16	0.004656	9.1851e-16	23	16				
CKAP5	9793	broad.mit.edu	37	11	46802036	46802036	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:46802036C>T	uc001ndi.1	-	19	2360	c.2250_splice	c.e19-1	p.G750_splice	CKAP5_uc009ylg.1_Splice_Site_p.G636_splice|CKAP5_uc001ndj.1_Splice_Site_p.G750_splice	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GACATTCAACCTAGAAGAAAC	0.338		NaN											0	0	0	0.00245	0	11	10				
OR4C3	256144	broad.mit.edu	37	11	48346740	48346740	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:48346740C>T	uc010rhv.1	+	1	248	c.248C>T	c.(247-249)CCT>CTT	p.P83L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGGCTTCCCCTGTGTATTTT	0.458		NaN											0	0	0	0.001168	0	3	35				
OR5AS1	219447	broad.mit.edu	37	11	55798291	55798291	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55798291A>G	uc010riw.1	+	1	397	c.397A>G	c.(397-399)ACT>GCT	p.T133A		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					ACTGCTCTATACTACACTGAT	0.463		NaN											0	0	0	0.009535	0	33	25				
OR8H3	390152	broad.mit.edu	37	11	55890516	55890516	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55890516C>T	uc001nii.1	+	1	668	c.668C>T	c.(667-669)TCT>TTT	p.S223F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TCCATTCTCTCTACCATCCTG	0.418		NaN											0	0	0	0.00361	0	53	57				
OR5R1	219479	broad.mit.edu	37	11	56185025	56185025	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56185025G>A	uc010rji.1	-	1	684	c.684C>T	c.(682-684)ATC>ATT	p.I228I		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GAGTAGAGCGGATCCTTAGGA	0.443		NaN											0	0	0	0.005524	0	29	41				
OR5M10	390167	broad.mit.edu	37	11	56345172	56345172	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56345172A>G	uc001niz.1	-	1	26	c.26T>C	c.(25-27)GTG>GCG	p.V9A		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAATTCTGTCACTATGGTGTG	0.433		NaN											0	0	0	0.010771	0	38	59				
VWCE	220001	broad.mit.edu	37	11	61026169	61026170	+	Missense_Mutation	DNP	CG	CG	GA	rs143205377	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:61026169_61026170CG>GA	uc001nra.2	-	20	3124_3125	c.2845_2846CG>TC	c.(2845-2847)CGG>TCG	p.R949S	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	949						extracellular region	calcium ion binding			ovary(1)	1						CTCTTCCCCCCGAGAAGCCCCC	0.663		NaN											0	0	0	0.004672	0	15	27				
AHNAK	79026	broad.mit.edu	37	11	62292550	62292550	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:62292550C>A	uc001ntl.2	-	5	9639	c.9339G>T	c.(9337-9339)CTG>CTT	p.L3113L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3113					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCACTTTTGGCAGAGACACAT	0.473		NaN											1	0	2.68928e-46	0.00361	3.18128e-46	96	127				
CDCA5	113130	broad.mit.edu	37	11	64847132	64847132	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64847132G>A	uc001ocp.2	-	5	536	c.371C>T	c.(370-372)TCC>TTC	p.S124F		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	124					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0						CTTGGAGCTGGACTCGGCCTC	0.607		NaN											0	0	0	0.001168	0	5	2				
PELI3	246330	broad.mit.edu	37	11	66236342	66236342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66236342G>C	uc001oic.3	+	3	355	c.191G>C	c.(190-192)AGA>ACA	p.R64T	PELI3_uc001oib.2_Missense_Mutation_p.R64T|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	64						cytosol	protein binding			ovary(1)	1						gaggctcagagaggggaagtg	0		NaN											0	0	0	0.00308	0	8	8				
RBM14	10432	broad.mit.edu	37	11	66392723	66392723	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66392723G>T	uc001oit.2	+	2	1515	c.1376G>T	c.(1375-1377)GGC>GTC	p.G459V	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	459	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CCAATGGCTGGCTCCTATGGG	0.622		NaN											1	0	4.15467e-78	0.00361	4.9588e-78	84	107				
CTTN	2017	broad.mit.edu	37	11	70277332	70277332	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:70277332G>C	uc001opv.3	+	15	1418	c.1212G>C	c.(1210-1212)GTG>GTC	p.V404V	CTTN_uc001opu.2_Silent_p.V367V|CTTN_uc001opw.3_Silent_p.V367V|CTTN_uc010rqm.1_Silent_p.V88V|CTTN_uc001opx.2_Silent_p.V88V	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	404						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCCCCCTGTGTCGCCCGCAC	0.562		NaN											0	0	0	0.00361	0	71	82				
NADSYN1	55191	broad.mit.edu	37	11	71169536	71169536	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:71169536T>C	uc001oqn.2	+	3	335	c.209T>C	c.(208-210)CTA>CCA	p.L70P	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	70	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCAAGTCCTAGCGGCCCTT	0.542		NaN											0	0	0	0.012213	0	27	67				
SLCO2B1	11309	broad.mit.edu	37	11	74911311	74911311	+	Missense_Mutation	SNP	G	G	A	rs149242910	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:74911311G>A	uc001owb.2	+	11	2029	c.1642G>A	c.(1642-1644)GTG>ATG	p.V548M	SLCO2B1_uc010rrq.1_Missense_Mutation_p.V293M|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V404M|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V432M|SLCO2B1_uc001owc.2_Missense_Mutation_p.V321M|SLCO2B1_uc001owd.2_Missense_Mutation_p.V526M	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	548	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	GGGCAACCCCGTGCTGGCAGG	0.632		NaN											0	0	0	0.00361	0	82	110				
PRKRIR	5612	broad.mit.edu	37	11	76062849	76062849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76062849C>G	uc001oxh.1	-	5	1345	c.1345G>C	c.(1345-1347)GAT>CAT	p.D449H	PRKRIR_uc010rrz.1_Missense_Mutation_p.D274H	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	449					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						TTTATACCATCTAAACATAAA	0.383		NaN											0	0	0	0.010818	0	24	24				
CAPN5	726	broad.mit.edu	37	11	76826502	76826502	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76826502A>G	uc001oxx.2	+	6	946	c.761A>G	c.(760-762)TAC>TGC	p.Y254C	CAPN5_uc009yup.2_Missense_Mutation_p.Y294C|CAPN5_uc009yuq.2_Missense_Mutation_p.Y290C|CAPN5_uc001oxy.2_Missense_Mutation_p.Y294C	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	254	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						GGCCACGCATACGCCGTCACT	0.642		NaN											0	0	0	0.008291	0	8	17				
GRM5	2915	broad.mit.edu	37	11	88780576	88780576	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:88780576G>T	uc001pcq.2	-	1	665	c.465C>A	c.(463-465)GCC>GCA	p.A155A	GRM5_uc009yvm.2_Silent_p.A155A|GRM5_uc009yvn.1_Silent_p.A155A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	155	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGACCTGAATGGCTACAGAAC	0.493		NaN											1	0	7.11191e-15	0.002836	7.88108e-15	27	21				
FAT3	120114	broad.mit.edu	37	11	92532922	92532922	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:92532922A>G	uc001pdj.3	+	9	6760	c.6743A>G	c.(6742-6744)TAT>TGT	p.Y2248C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2248	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTGGATTATGAAGTTACA	0.423		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.004482	0	9	4				
AMOTL1	154810	broad.mit.edu	37	11	94597966	94597966	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:94597966C>T	uc001pfb.2	+	10	2372	c.2202C>T	c.(2200-2202)ATC>ATT	p.I734I	AMOTL1_uc001pfc.2_Silent_p.I684I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	734	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGGCCCACATCTGGCAAGAGG	0.557		NaN											0	0	0	0.006999	0	30	134				
ATM	472	broad.mit.edu	37	11	108175524	108175524	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:108175524T>C	uc001pkb.1	+	37	6004	c.5619T>C	c.(5617-5619)TGT>TGC	p.C1873C	ATM_uc009yxr.1_Silent_p.C1873C|ATM_uc001pke.1_Silent_p.C525C|ATM_uc001pkg.1_Silent_p.C230C|ATM_uc009yxt.1_Missense_Mutation_p.S17P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1873					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCACCAGCTGTCTTCGACACT	0.368		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.010729	0	11	23				
C11orf57	55216	broad.mit.edu	37	11	111951225	111951225	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:111951225T>C	uc001pmr.3	+	4	944	c.263T>C	c.(262-264)CTT>CCT	p.L88P	C11orf57_uc001pmu.2_Missense_Mutation_p.L88P|C11orf57_uc001pmw.3_Missense_Mutation_p.L88P|C11orf57_uc001pmt.3_Missense_Mutation_p.L88P|C11orf57_uc001pmv.3_Missense_Mutation_p.L88P|C11orf57_uc001pms.3_Missense_Mutation_p.L59P	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	88										breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GATGATTTTCTTAAGGCTAAA	0.373		NaN											0	0	0	0.008291	0	9	31				
BUD13	84811	broad.mit.edu	37	11	116643573	116643573	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:116643573T>A	uc001ppn.2	-	1	142	c.108A>T	c.(106-108)AAA>AAT	p.K36N	BUD13_uc001ppo.2_Missense_Mutation_p.K36N|BUD13_uc009yzc.2_Missense_Mutation_p.K36N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	36										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCGGCCGCTTTTTGCGACGCT	0.692		NaN											0	0	0	0.004482	0	6	3				
OR8B8	26493	broad.mit.edu	37	11	124310918	124310918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124310918C>A	uc010sal.1	-	1	64	c.64G>T	c.(64-66)GGA>TGA	p.G22*		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCTGGACTCCCGGTTGGTCA	0.502		NaN											1	0	6.55177e-30	0.007291	7.64182e-30	20	42				
OR8A1	390275	broad.mit.edu	37	11	124440003	124440003	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124440003C>T	uc010san.1	+	1	39	c.39C>T	c.(37-39)CCC>CCT	p.P13P		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCAGGCCTCCCACCCAGAGGA	0.522		NaN											0	0	0	0.00499	0	16	11				
NFRKB	4798	broad.mit.edu	37	11	129758510	129758510	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:129758510T>A	uc001qfi.2	-	4	517	c.316A>T	c.(316-318)ATT>TTT	p.I106F	NFRKB_uc001qfg.2_Missense_Mutation_p.I119F|NFRKB_uc001qfh.2_Missense_Mutation_p.I129F|NFRKB_uc010sbw.1_Missense_Mutation_p.I106F	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	106					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCTGGGCAATGTGCAGAGGG	0.493		NaN											0	0	0	0.00623	0	28	46				
SNX19	399979	broad.mit.edu	37	11	130785171	130785171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:130785171C>T	uc001qgk.3	-	1	1212	c.664G>A	c.(664-666)GGG>AGG	p.G222R	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.G222R|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	222	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCACCAGCCCTTGAAGCAAC	0.567		NaN											0	0	0	0.007413	0	14	12				
B4GALNT3	283358	broad.mit.edu	37	12	662804	662804	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:662804A>T	uc001qii.1	+	14	1715	c.1715A>T	c.(1714-1716)CAG>CTG	p.Q572L	B4GALNT3_uc001qij.1_Missense_Mutation_p.Q475L|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q121L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	572	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCGCAGAGCAGAGACGGGGT	0.637		NaN											0	0	0	0.012213	0	24	23				
C12orf4	57102	broad.mit.edu	37	12	4599748	4599748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:4599748C>T	uc001qms.2	-	13	1594	c.1506G>A	c.(1504-1506)ATG>ATA	p.M502I	C12orf4_uc001qmt.2_Missense_Mutation_p.M502I	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	502											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCATTTCCATCATGAAACCTA	0.388		NaN											0	0	0	0.007835	0	31	37				
LAG3	3902	broad.mit.edu	37	12	6882428	6882428	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:6882428C>A	uc001qqt.3	+	2	478	c.129C>A	c.(127-129)CCC>CCA	p.P43P	LAG3_uc001qqs.2_Silent_p.P43P|LAG3_uc001qqu.2_Translation_Start_Site	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	43	Ig-like V-type.|Extracellular (Potential).					integral to membrane	antigen binding|MHC class II protein binding				0						CCCAGCTCCCCTGCAGCCCCA	0.637		NaN											1	0	6.2361e-21	0.007835	7.12392e-21	38	23				
APOBEC1	339	broad.mit.edu	37	12	7805283	7805283	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:7805283T>C	uc001qtb.2	-	3	227	c.193A>G	c.(193-195)AAT>GAT	p.N65D	APOBEC1_uc001qtc.2_Missense_Mutation_p.N20D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N65D	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	65					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						tttataaaattaaCTTCCACG	0.473		NaN											0	0	0	0.004672	0	2	10				
SLC2A3	6515	broad.mit.edu	37	12	8083210	8083210	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8083210G>T	uc001qtr.2	-	5	801	c.539C>A	c.(538-540)TCT>TAT	p.S180Y	SLC2A3_uc001qts.2_Missense_Mutation_p.S180Y	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	180	Extracellular (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TAGCTCTTCAGACCCAAGGAT	0.438		NaN											1	0	6.53348e-20	0.003755	7.43811e-20	29	25				
MFAP5	8076	broad.mit.edu	37	12	8800748	8800748	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8800748G>A	uc001qut.1	-	10	674	c.461C>T	c.(460-462)TCC>TTC	p.S154F	MFAP5_uc001qus.2_Missense_Mutation_p.S144F|MFAP5_uc009zge.1_Missense_Mutation_p.S129F	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5 precursor	154						microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)					GAAGTAATTGGAGCGACGGAG	0.453		NaN											0	0	0	0.005524	0	26	29				
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:11420862T>G	uc001qzs.2	-	3	359	c.321A>C	c.(319-321)GGA>GGC	p.G107G	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632		NaN											0	0	0	0.010729	0	4	162				
STRAP	11171	broad.mit.edu	37	12	16036570	16036570	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:16036570G>T	uc001rdc.3	+	2	562	c.208G>T	c.(208-210)GAT>TAT	p.D70Y	STRAP_uc010shw.1_Missense_Mutation_p.D83Y|STRAP_uc001rdd.3_Intron	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	70	WD 2.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				ACTGAATAAGGATGCCACCAA	0.458		NaN											1	0	5.91797e-21	0.012213	6.77211e-21	25	17				
SLCO1C1	53919	broad.mit.edu	37	12	20886039	20886039	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:20886039G>C	uc001rej.3	+	11	1737	c.1382_splice	c.e11+1	p.G461_splice	SLCO1C1_uc010sii.1_Splice_Site_p.G461_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G343_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CCTACCAAGGGTATGTTCCCT	0.363		NaN											0	0	0	0.00361	0	72	63				
NELL2	4753	broad.mit.edu	37	12	44926364	44926364	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:44926364C>T	uc001rog.2	-	16	2399	c.1804G>A	c.(1804-1806)GAT>AAT	p.D602N	NELL2_uc001rof.3_Missense_Mutation_p.D601N|NELL2_uc001roh.2_Missense_Mutation_p.D602N|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.D652N|NELL2_uc010sla.1_Missense_Mutation_p.D625N|NELL2_uc001roi.1_Missense_Mutation_p.D602N|NELL2_uc010slb.1_3'UTR	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	602	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D602N(1)		skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGTACTGACCTTCACACGAT	0.403		NaN											0	0	0	0.00361	0	75	67				
HDAC7	51564	broad.mit.edu	37	12	48191920	48191920	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48191920G>C	uc009zkv.1	-	3	530	c.315C>G	c.(313-315)GTC>GTG	p.V105V	HDAC7_uc010slo.1_Silent_p.V144V|HDAC7_uc001rqj.3_Silent_p.V144V|HDAC7_uc001rqk.3_Silent_p.V127V			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	105	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		TGTTGGGATGGACTGTTCTTT	0.602		NaN											0	0	0	0.00361	0	188	214				
COL2A1	1280	broad.mit.edu	37	12	48375906	48375906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48375906C>A	uc001rqu.2	-	35	2520	c.2339G>T	c.(2338-2340)GGA>GTA	p.G780V	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G711V	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	780	Triple-helical region.		G -> R (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCATCCTTTCCAGGGGCTCC	0.617		NaN											1	0	1.33835e-49	0.00361	1.58602e-49	79	126				
ZNF641	121274	broad.mit.edu	37	12	48739259	48739259	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48739259T>A	uc001rrn.1	-	4	484	c.319_splice	c.e4-1	p.G107_splice	ZNF641_uc001rro.1_Splice_Site_p.G93_splice|ZNF641_uc010sls.1_Intron	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						TACCAGGCCCTGAAACAAAAT	0.448		NaN											0	0	0	0.00361	0	33	34				
MLL2	8085	broad.mit.edu	37	12	49420164	49420164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420164C>G	uc001rta.3	-	48	15585	c.15585G>C	c.(15583-15585)CAG>CAC	p.Q5195H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5195	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGTCAGCCATCTGGTGAGGCA	0.587		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.00278	0	19	26		Valid		
MLL2	8085	broad.mit.edu	37	12	49420438	49420438	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420438C>T	uc001rta.3	-	48	15311	c.15311G>A	c.(15310-15312)TGC>TAC	p.C5104Y		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5104	RING-type 4; degenerate.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CATGCGATTGCAGCTGCTGGT	0.562		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.003271	0	32	32		Valid		
TUBA1A	7846	broad.mit.edu	37	12	49579351	49579351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49579351G>C	uc009zlf.2	-	4	1070	c.798C>G	c.(796-798)CAC>CAG	p.H266Q	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.H266Q|TUBA1A_uc001rtq.2_Missense_Mutation_p.H113Q|TUBA1A_uc001rtr.2_Missense_Mutation_p.H113Q|TUBA1A_uc009zlg.2_Missense_Mutation_p.H113Q	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	266					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CCAGAGGGAAGTGGATGCGGG	0.512		NaN											0	0	0	0.003954	0	18	95				
DNAJC22	79962	broad.mit.edu	37	12	49745187	49745187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49745187C>A	uc001rua.2	+	3	1329	c.928C>A	c.(928-930)CTG>ATG	p.L310M	DNAJC22_uc001rub.2_Missense_Mutation_p.L310M	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	310	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						AGACCACAACCTGGACCAGAC	0.542		NaN											1	0	1.13719e-10	0.008361	1.22354e-10	25	33				
NCKAP5L	57701	broad.mit.edu	37	12	50189721	50189721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:50189721G>T	uc009zlk.2	-	8	2124	c.1922C>A	c.(1921-1923)TCA>TAA	p.S641*	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S234*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	637										central_nervous_system(1)	1						CTTCTTGGATGAGTTGCCTGG	0.652		NaN											1	0	2.0095e-06	0.001984	2.08462e-06	6	2				
ACVRL1	94	broad.mit.edu	37	12	52312784	52312784	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52312784A>G	uc001rzj.2	+	9	1545	c.1262A>G	c.(1261-1263)TAT>TGT	p.Y421C	ACVRL1_uc001rzk.2_Missense_Mutation_p.Y421C|ACVRL1_uc010snm.1_Missense_Mutation_p.Y247C	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	421	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GTGGAGGACTATAGACCACCC	0.532		NaN							Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.00361	0	52	54				
KRT85	3891	broad.mit.edu	37	12	52758771	52758771	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52758771C>T	uc001sag.2	-	2	724	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	202	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCACCTCCTGCACATGG	0.622		NaN											0	0	0	0.00361	0	99	157				
GDF11	10220	broad.mit.edu	37	12	56143318	56143318	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56143318C>G	uc001shq.2	+	3	913	c.876C>G	c.(874-876)AAC>AAG	p.N292K	GDF11_uc010spv.1_Missense_Mutation_p.N292K	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	292					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						TCCTAGAGAACACAAAACGTT	0.547		NaN											0	0	0	0.008361	0	25	74				
PAN2	9924	broad.mit.edu	37	12	56713447	56713447	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56713447C>A	uc001skx.2	-	22	3433	c.3060G>T	c.(3058-3060)GAG>GAT	p.E1020D	PAN2_uc001skw.2_Missense_Mutation_p.E168D|PAN2_uc001skz.2_Missense_Mutation_p.E1019D|PAN2_uc001sky.2_Missense_Mutation_p.E1016D	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1020	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGGGGATACCCTCATTGGGTC	0.498		NaN											1	0	9.31168e-06	0.001855	9.58513e-06	13	50				
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:57033894G>A	uc001slr.2	-	8	1262	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						AATGGCACGCGACAGTACAGT	0.512		NaN											0	0	0	0.004656	0	23	44				
BEST3	144453	broad.mit.edu	37	12	70070964	70070964	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:70070964G>A	uc001svg.2	-	6	937	c.710C>T	c.(709-711)ACC>ATC	p.T237I	BEST3_uc001svd.1_Missense_Mutation_p.T237I|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.T75I|BEST3_uc010stm.1_Missense_Mutation_p.T131I|BEST3_uc001svh.2_Missense_Mutation_p.T75I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	237						chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTACCTGGGTGTAAACCAG	0.478		NaN											0	0	0	0.009096	0	4	16				
ALX1	8092	broad.mit.edu	37	12	85695132	85695132	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:85695132C>T	uc001tae.3	+	4	864	c.860C>T	c.(859-861)ACT>ATT	p.T287I		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	287					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TCTCTTCTTACTGGGGCAACC	0.493		NaN											0	0	0	0.008871	0	18	51				
CEP290	80184	broad.mit.edu	37	12	88482860	88482860	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:88482860C>A	uc001tar.2	-	31	4322	c.3978G>T	c.(3976-3978)AAG>AAT	p.K1326N	CEP290_uc001taq.2_Missense_Mutation_p.K386N	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1326	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CTTCCAGGCCCTTTAATTTTA	0.259		NaN											1	0	3.62473e-10	0.012319	3.88114e-10	17	12				
ATP2B1	490	broad.mit.edu	37	12	90004246	90004246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:90004246G>A	uc001tbh.2	-	13	2468	c.2287C>T	c.(2287-2289)CGA>TGA	p.R763*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R763*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R433*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	763	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GCAAGTACTCGAAGTTTTGGC	0.323		NaN											0	0	0	0.00361	0	43	123				
ANKS1B	56899	broad.mit.edu	37	12	100048914	100048914	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:100048914T>A	uc001tge.1	-	9	1620	c.1203A>T	c.(1201-1203)CCA>CCT	p.P401P	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.P367P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	401						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGTCCTGATGGCCCACACG	0.393		NaN											0	0	0	0.008871	0	16	12				
GLTP	51228	broad.mit.edu	37	12	110290444	110290444	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:110290444G>C	uc001tpm.2	-	5	660	c.546C>G	c.(544-546)CTC>CTG	p.L182L	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	182						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TGACTAGGAAGAGGCGGATCT	0.537		NaN									OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	140	213				
C12orf51	283450	broad.mit.edu	37	12	112720937	112720937	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:112720937T>C	uc009zwc.2	-	2	341	c.323A>G	c.(322-324)AAC>AGC	p.N108S		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTTCAGTGTGTTGGAGATGGT	0.478		NaN											0	0	0	0.00623	0	27	18				
RASAL1	8437	broad.mit.edu	37	12	113565880	113565880	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:113565880C>A	uc001tum.1	-	4	519	c.226G>T	c.(226-228)GAC>TAC	p.D76Y	RASAL1_uc010syp.1_Missense_Mutation_p.D76Y|RASAL1_uc001tul.2_Missense_Mutation_p.D76Y|RASAL1_uc001tun.1_Missense_Mutation_p.D76Y|RASAL1_uc010syq.1_Missense_Mutation_p.D76Y|RASAL1_uc001tuo.3_Missense_Mutation_p.D76Y|RASAL1_uc010syr.1_Missense_Mutation_p.D76Y	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	76	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						CCGACAGTGTCCTCATCCAGC	0.617		NaN											1	0	1.72433e-176	0.00361	2.07293e-176	309	201				
NOS1	4842	broad.mit.edu	37	12	117724011	117724011	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:117724011A>G	uc001twm.1	-	6	1874	c.1188T>C	c.(1186-1188)ACT>ACC	p.T396T		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	396					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTAAGTGCTAGTGGTGTCGA	0.562		NaN											0	0	0	0.003163	0	14	31				
KSR2	283455	broad.mit.edu	37	12	118293355	118293355	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118293355T>G	uc001two.2	-	3	318	c.263A>C	c.(262-264)GAG>GCG	p.E88A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	117					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAGGTCCTCCAGGCTCAG	0.612		NaN											0	0	0	0.009535	0	26	20				
VSIG10	54621	broad.mit.edu	37	12	118511557	118511557	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118511557C>G	uc001tws.2	-	5	1500	c.1166G>C	c.(1165-1167)CGA>CCA	p.R389P		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	389	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane					0						GCTGTCAGCTCGGCAGATGTA	0.577		NaN											0	0	0	0.00361	0	48	36				
CIT	11113	broad.mit.edu	37	12	120195199	120195199	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:120195199C>T	uc001txi.1	-	21	2609	c.2556G>A	c.(2554-2556)CTG>CTA	p.L852L	CIT_uc001txh.1_Silent_p.L386L|CIT_uc001txj.1_Silent_p.L894L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	852	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTCCAGTTCCAGCAGCCGAT	0.557		NaN											0	0	0	0.00361	0	189	308				
HIP1R	9026	broad.mit.edu	37	12	123333067	123333067	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123333067C>T	uc001udj.1	+	3	271	c.212C>T	c.(211-213)GCC>GTC	p.A71V	HIP1R_uc001udg.1_Missense_Mutation_p.A59V|HIP1R_uc001udi.1_Missense_Mutation_p.A71V|HIP1R_uc001udh.2_Missense_Mutation_p.A71V	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	71	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGTCCTACGCCATTGGGCTG	0.597		NaN											0	0	0	0.012319	0	18	46				
SBNO1	55206	broad.mit.edu	37	12	123782653	123782653	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123782653T>A	uc010tap.1	-	30	3911	c.3911A>T	c.(3910-3912)TAT>TTT	p.Y1304F	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.Y1303F|SBNO1_uc010taq.1_Missense_Mutation_p.Y255F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1304							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATACATAATATGTACGGCA	0.438		NaN											0	0	0	0.003755	0	30	56				
DNAH10	196385	broad.mit.edu	37	12	124403343	124403343	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124403343C>T	uc001uft.3	+	64	11024	c.10999C>T	c.(10999-11001)CTG>TTG	p.L3667L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3667					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGATGGCCCTGGTGAACTC	0.577		NaN											0	0	0	0.006214	0	7	16				
ZNF664	144348	broad.mit.edu	37	12	124497333	124497333	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124497333G>C	uc001ufz.2	+	6	2472	c.642G>C	c.(640-642)CTG>CTC	p.L214L	ZNF664_uc001uga.2_Silent_p.L214L|ZNF664_uc001ugb.2_Silent_p.L214L	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	214	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTTCGAGCCTGTGCATCCACC	0.527		NaN											0	0	0	0.001168	0	3	94				
SFRS8	6433	broad.mit.edu	37	12	132241141	132241141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:132241141A>T	uc001uja.1	+	11	1812	c.1672A>T	c.(1672-1674)AAG>TAG	p.K558*	SFRS8_uc010tbn.1_Nonsense_Mutation_p.K558*|SFRS8_uc001ujb.1_Nonsense_Mutation_p.K351*	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	558					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGGCGGGAAGAAGGAGGCATC	0.607		NaN											0	0	0	0.008291	0	9	14				
RNF17	56163	broad.mit.edu	37	13	25362208	25362208	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:25362208G>C	uc001upr.2	+	7	735	c.694G>C	c.(694-696)GAG>CAG	p.E232Q	RNF17_uc010tdd.1_Missense_Mutation_p.E91Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E232Q|RNF17_uc001ups.2_Missense_Mutation_p.E171Q|RNF17_uc001upq.1_Missense_Mutation_p.E232Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTACATTGAAGAGAAAAAAAA	0.303		NaN											0	0	0	0.007413	0	19	14				
FRY	10129	broad.mit.edu	37	13	32869562	32869562	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:32869562C>G	uc001utx.2	+	61	9503	c.9007C>G	c.(9007-9009)CTT>GTT	p.L3003V	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.L534V|FRY_uc010tdx.1_Missense_Mutation_p.L373V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	3003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CACTACTTTTCTTCCAGACTC	0.567		NaN											0	0	0	0.010818	0	27	25				
FREM2	341640	broad.mit.edu	37	13	39265823	39265823	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:39265823G>C	uc001uwv.2	+	1	4651	c.4342G>C	c.(4342-4344)GAC>CAC	p.D1448H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1448	Extracellular (Potential).|CSPG 10.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGCACTAGTGACTTGAACAG	0.488		NaN											0	0	0	0.005524	0	31	30				
ZIC2	7546	broad.mit.edu	37	13	100634920	100634920	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:100634920G>C	uc001von.2	+	1	602	c.602G>C	c.(601-603)CGG>CCG	p.R201P		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	201	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCAGCCCGCGGACCGACCCC	0.627		NaN											0	0	0	0.001984	0	7	24				
TMTC4	84899	broad.mit.edu	37	13	101315400	101315400	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:101315400C>A	uc001vou.2	-	4	473	c.313G>T	c.(313-315)GTG>TTG	p.V105L	TMTC4_uc001vot.2_Missense_Mutation_p.V124L|TMTC4_uc010tja.1_Intron	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	105						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAAGCCCACGGGGTGGAAG	0.562		NaN											1	0	4.10826e-27	0.00361	4.75018e-27	37	50				
ACIN1	22985	broad.mit.edu	37	14	23528466	23528466	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:23528466C>T	uc001wit.3	-	19	4245	c.3917G>A	c.(3916-3918)AGG>AAG	p.R1306K	CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R548K|ACIN1_uc001wiq.3_Missense_Mutation_p.R548K|ACIN1_uc001wir.3_Missense_Mutation_p.R579K|ACIN1_uc001wis.3_Missense_Mutation_p.R987K|ACIN1_uc010akg.2_Missense_Mutation_p.R1293K	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1306	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCCCTTTCCCTATCCCGATC	0.507		NaN									OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	25	95				
RABGGTA	5875	broad.mit.edu	37	14	24738749	24738749	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24738749G>A	uc001wof.2	-	5	1001	c.579C>T	c.(577-579)CCC>CCT	p.P193P	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Silent_p.P193P|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	193	PFTA 4.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		AATCCGGCTGGGGGTGCAGCT	0.592		NaN											0	0	0	0.00361	0	40	156				
ADCY4	196883	broad.mit.edu	37	14	24800296	24800296	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24800296G>A	uc001wov.2	-	6	864	c.858C>T	c.(856-858)GCC>GCT	p.A286A	ADCY4_uc001wow.2_Silent_p.A286A|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.A286A|ADCY4_uc001woy.2_Silent_p.A286A	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	286	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		AACACTCGCTGGCCAGCCGCG	0.602		NaN											0	0	0	0.012213	0	21	29				
FOXG1	2290	broad.mit.edu	37	14	29237880	29237880	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:29237880G>A	uc001wqe.2	+	1	1594	c.1395G>A	c.(1393-1395)ACG>ACA	p.T465T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	465					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTTTACGACGGGACTGTCTG	0.547		NaN											0	0	0	0.00361	0	41	50				
SOS2	6655	broad.mit.edu	37	14	50649252	50649252	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:50649252C>T	uc001wxs.3	-	6	885	c.787G>A	c.(787-789)GAC>AAC	p.D263N	SOS2_uc010tql.1_Missense_Mutation_p.D263N|SOS2_uc001wxt.2_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	263	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCAACTGTGTCTTCAATCAAA	0.333		NaN											0	0	0	0.001855	0	11	19				
C14orf101	54916	broad.mit.edu	37	14	57083924	57083924	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:57083924T>C	uc001xcm.2	+	9	1087	c.965T>C	c.(964-966)GTA>GCA	p.V322A	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	322	Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CCATCATTAGTATGGCTTTTT	0.284		NaN											0	0	0	0.001368	0	9	29				
SLC38A6	145389	broad.mit.edu	37	14	61486258	61486258	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:61486258G>C	uc001xfg.1	+	5	480	c.364_splice	c.e5-1	p.L122_splice	SLC38A6_uc001xfh.1_Splice_Site_p.L122_splice|SLC38A6_uc001xfi.2_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.2_Splice_Site|SLC38A6_uc010trz.1_Splice_Site_p.L99_splice	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTCTTTTACAGTTGGTGGTGG	0.323		NaN											0	0	0	0.00278	0	20	86				
SGPP1	81537	broad.mit.edu	37	14	64153045	64153045	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64153045C>A	uc001xgj.2	-	3	1198	c.1104G>T	c.(1102-1104)CGG>CGT	p.R368R		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	368	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CTATGAGGATCCGCAATATGG	0.378		NaN											1	0	1.64113e-05	0.010504	1.68672e-05	19	40				
MTHFD1	4522	broad.mit.edu	37	14	64898301	64898301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64898301C>T	uc001xhb.2	+	14	1750	c.1363C>T	c.(1363-1365)CTC>TTC	p.L455F	MTHFD1_uc010aqe.2_Missense_Mutation_p.L491F|MTHFD1_uc010aqf.2_Missense_Mutation_p.L511F	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	455	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGCTAATAACCTCGTTGCTGC	0.463		NaN											0	0	0	0.00361	0	40	28				
TMEM229B	161145	broad.mit.edu	37	14	67940532	67940532	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:67940532A>G	uc001xjk.2	-	3	519	c.109T>C	c.(109-111)TTG>CTG	p.L37L	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	37	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						TTCCAGTTCAAGTTCACCACG	0.632		NaN											0	0	0	0.003163	0	10	17				
ZFYVE26	23503	broad.mit.edu	37	14	68264756	68264756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:68264756C>G	uc001xka.2	-	11	2362	c.2223G>C	c.(2221-2223)AAG>AAC	p.K741N	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.K741N|ZFYVE26_uc010tta.1_Missense_Mutation_p.K741N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	741					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGTCACCACCTTGTGTCTCC	0.542		NaN											0	0	0	0.00361	0	83	36				
KIAA0317	9870	broad.mit.edu	37	14	75142403	75142403	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:75142403T>A	uc001xqb.2	-	8	1584	c.1079A>T	c.(1078-1080)AAG>ATG	p.K360M	KIAA0317_uc010tut.1_Missense_Mutation_p.K199M|KIAA0317_uc001xqc.2_Missense_Mutation_p.K360M	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	360					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AGGTCCAACCTTTGGTGACAC	0.478		NaN											0	0	0	0.00361	0	356	202				
C14orf102	55051	broad.mit.edu	37	14	90767622	90767622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:90767622G>C	uc001xyi.1	-	7	1537	c.1506C>G	c.(1504-1506)TTC>TTG	p.F502L	C14orf102_uc010atp.1_Missense_Mutation_p.F7L|C14orf102_uc001xyj.1_Missense_Mutation_p.F271L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	502							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGTCGGGTTTGAAGAAGGTGA	0.562		NaN											0	0	0	0.00361	0	42	24				
TTC7B	145567	broad.mit.edu	37	14	91077094	91077094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:91077094G>A	uc001xyp.2	-	17	2080	c.1958C>T	c.(1957-1959)CCC>CTC	p.P653L	TTC7B_uc001xyo.2_Missense_Mutation_p.P80L|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	653							binding			ovary(2)	2		Melanoma(154;0.222)				ACCTGTCTCGGGATCGCTGAA	0.498		NaN											0	0	0	0.004482	0	8	106				
ASB2	51676	broad.mit.edu	37	14	94404063	94404063	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:94404063G>C	uc001ycc.1	-	7	2097	c.1608C>G	c.(1606-1608)GCC>GCG	p.A536A	ASB2_uc001ycb.1_Silent_p.A230A|ASB2_uc001ycd.2_Silent_p.A584A|ASB2_uc001yce.1_Silent_p.A482A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	536	SOCS box.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTTGATGACGGCCCAGTCCT	0.617		NaN											0	0	0	0.00361	0	49	28				
EML1	2009	broad.mit.edu	37	14	100402395	100402395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:100402395G>A	uc001ygs.2	+	18	2008	c.1939G>A	c.(1939-1941)GAC>AAC	p.D647N	EML1_uc010tww.1_Missense_Mutation_p.D635N|EML1_uc001ygr.2_Missense_Mutation_p.D666N	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	647	WD 8.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGCTCACATGACAACTGCAT	0.423		NaN											0	0	0	0.012319	0	15	51				
WDR20	91833	broad.mit.edu	37	14	102675273	102675273	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:102675273G>A	uc001ykz.2	+	3	815	c.766G>A	c.(766-768)GGT>AGT	p.G256S	WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_Missense_Mutation_p.G132S|WDR20_uc001ylb.2_Missense_Mutation_p.G195S|WDR20_uc010txu.1_Missense_Mutation_p.G287S|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G256S|WDR20_uc001yle.2_Missense_Mutation_p.G195S|WDR20_uc001ylf.2_Missense_Mutation_p.G268S	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	256	WD 2.										0						GGAGCTGCACGGTACGATGAA	0.557		NaN											0	0	0	0.00632	0	24	1				
RCOR1	23186	broad.mit.edu	37	14	103188691	103188691	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:103188691A>T	uc001ymb.2	+	11	1348	c.1348A>T	c.(1348-1350)AGT>TGT	p.S450C		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	450					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						CAATGGGCCCAGTAACCAGAA	0.418		NaN											0	0	0	0.00361	0	53	44				
AHNAK2	113146	broad.mit.edu	37	14	105410488	105410488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:105410488G>A	uc010axc.1	-	7	11420	c.11300C>T	c.(11299-11301)CCC>CTC	p.P3767L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P3667L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3767						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCACGCTGGGCAGAGACAC	0.617		NaN											0	0	0	0.00361	0	82	97				
C15orf55	256646	broad.mit.edu	37	15	34640693	34640693	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:34640693A>G	uc001zif.2	+	2	695	c.540A>G	c.(538-540)CCA>CCG	p.P180P	C15orf55_uc010ucc.1_Silent_p.P208P|C15orf55_uc010ucd.1_Silent_p.P198P	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	180	Pro-rich.					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)		AAGCTTGGCCAGGGCCACATG	0.582		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.003163	0	10	7				
GJD2	57369	broad.mit.edu	37	15	35045148	35045148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:35045148G>A	uc001zis.1	-	2	497	c.497C>T	c.(496-498)CCA>CTA	p.P166L	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	166	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TAAACAATCTGGCTCTGTCTC	0.507		NaN											0	0	0	0.00361	0	61	122				
TP53BP1	7158	broad.mit.edu	37	15	43712625	43712625	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:43712625T>G	uc001zrs.2	-	21	4692	c.4544A>C	c.(4543-4545)TAT>TCT	p.Y1515S	TP53BP1_uc010udp.1_Missense_Mutation_p.Y1515S|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1520S|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1520S|TP53BP1_uc010udq.1_Missense_Mutation_p.Y1520S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1515	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCAATTTATACTTCCCAGC	0.488		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.004656	0	19	289				
SPATA5L1	79029	broad.mit.edu	37	15	45713304	45713304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:45713304C>T	uc001zve.2	+	8	2267	c.2158C>T	c.(2158-2160)CTA>TTA	p.L720L	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	720						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGAGCACTTTCTAAAATCACT	0.348		NaN											0	0	0	0.000602	0	5	9				
UNC13C	440279	broad.mit.edu	37	15	54306784	54306784	+	Missense_Mutation	SNP	G	G	C	rs142320070	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:54306784G>C	uc002ack.2	+	1	1684	c.1684G>C	c.(1684-1686)GAA>CAA	p.E562Q		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	562					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTACTCAGAAGATTTTTC	0.423		NaN											0	0	0	0.003163	0	12	4				
PIGB	9488	broad.mit.edu	37	15	55647054	55647054	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:55647054A>G	uc002act.2	+	11	1712	c.1396A>G	c.(1396-1398)AAA>GAA	p.K466E	PIGB_uc010ugg.1_Missense_Mutation_p.K271E	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	466					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		CCTGACTGGAAAAAGTCATTA	0.378		NaN											0	0	0	0.004007	0	10	5				
PAQR5	54852	broad.mit.edu	37	15	69677081	69677081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:69677081G>A	uc002arz.2	+	5	623	c.245G>A	c.(244-246)TGG>TAG	p.W82*	PAQR5_uc002asa.2_Nonsense_Mutation_p.W82*	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	82	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						AGCTACTCCTGGCCCATGCTT	0.527		NaN											0	0	0	0.00361	0	53	139				
TLE3	7090	broad.mit.edu	37	15	70389121	70389121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:70389121C>G	uc002asm.2	-	1	1136	c.17G>C	c.(16-18)AGA>ACA	p.R6T	TLE3_uc002ask.2_5'Flank|TLE3_uc002asl.2_5'Flank|TLE3_uc010ukd.1_5'Flank|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.R6T|TLE3_uc002asn.2_Missense_Mutation_p.R6T|TLE3_uc002asp.2_Missense_Mutation_p.R6T|TLE3_uc002aso.2_Missense_Mutation_p.R6T	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	6	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						CACCGGATGTCTGCCCTGCGG	0.592		NaN											0	0	0	0.001855	0	9	29				
CYP1A1	1543	broad.mit.edu	37	15	75013618	75013618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75013618G>T	uc002ayp.3	-	5	1210	c.1088C>A	c.(1087-1089)TCC>TAC	p.S363Y	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.S99Y|CYP1A1_uc010bjx.2_Missense_Mutation_p.S99Y|CYP1A1_uc002ayq.3_Missense_Mutation_p.S363Y|CYP1A1_uc010bjy.2_Missense_Mutation_p.S363Y|CYP1A1_uc010bjz.1_Missense_Mutation_p.S99Y	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	363					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGGCAGATGGGATCTGTCAGA	0.607		NaN							Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				1	0	2.70639e-06	0.002299	2.8032e-06	19	43				
KIAA1024	23251	broad.mit.edu	37	15	79748439	79748439	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:79748439G>A	uc002bew.1	+	2	26	c.-49_splice	c.e2-1		KIAA1024_uc010unk.1_5'Flank	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251							integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGCCACCACAGAACTGACCTG	0.403		NaN											0	0	0	0.008291	0	8	6				
ADAMTSL3	57188	broad.mit.edu	37	15	84706492	84706492	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:84706492A>T	uc002bjz.3	+	30	5234	c.5010A>T	c.(5008-5010)AAA>AAT	p.K1670N	ADAMTSL3_uc010bmu.1_Intron	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1670	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTTGTAAAACATCTTAATT	0.373		NaN											0	0	0	0.00623	0	30	38				
TXNDC11	51061	broad.mit.edu	37	16	11794368	11794368	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:11794368T>A	uc010buu.1	-	7	989	c.927A>T	c.(925-927)AAA>AAT	p.K309N	TXNDC11_uc002dbg.1_Missense_Mutation_p.K282N	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	309					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGGATACCAGTTTCGCAAGAT	0.328		NaN											0	0	0	0.00361	0	45	26				
PDILT	204474	broad.mit.edu	37	16	20380853	20380853	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:20380853G>A	uc002dhc.1	-	8	1300	c.1077C>T	c.(1075-1077)CTC>CTT	p.L359L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	359					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						CAAATTTCTTGAGGCTTTCGT	0.443		NaN											0	0	0	0.00361	0	52	31				
SULT1A1	6817	broad.mit.edu	37	16	28617545	28617545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28617545C>G	uc002dqi.2	-	6	1080	c.607G>C	c.(607-609)GAG>CAG	p.E203Q	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqk.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dql.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqm.2_Missense_Mutation_p.E125Q|SULT1A1_uc002dqn.2_Missense_Mutation_p.E294Q|SULT1A1_uc002dqo.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqp.2_Missense_Mutation_p.E203Q	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	203	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TTTTGAATCTCCCTTTTCGGG	0.542		NaN											0	0	0	0.001368	0	9	2				
ATP2A1	487	broad.mit.edu	37	16	28911941	28911941	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911941C>A	uc002dro.1	+	15	1988	c.1804C>A	c.(1804-1806)CCT>ACT	p.P602T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P602T|ATP2A1_uc002drp.1_Missense_Mutation_p.P477T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	602	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CATGCTGGACCCTCCGCGCAA	0.612		NaN											1	0	2.78669e-64	0.00361	3.31417e-64	69	46				
ATP2A1	487	broad.mit.edu	37	16	28911981	28911981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911981G>A	uc002dro.1	+	15	2028	c.1844G>A	c.(1843-1845)CGT>CAT	p.R615H	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R615H|ATP2A1_uc002drp.1_Missense_Mutation_p.R490H	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	615	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGCTGTGCCGTGACGCCGGG	0.612		NaN											0	0	0	0.00361	0	50	42				
CD19	930	broad.mit.edu	37	16	28947484	28947484	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28947484G>C	uc002drs.2	+	6	1019	c.957G>C	c.(955-957)CTG>CTC	p.L319L	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L319L	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	319	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						CCCTGGTCCTGAGGAGGAAAA	0.547		NaN											0	0	0	0.007291	0	22	52				
ZNF646	9726	broad.mit.edu	37	16	31090894	31090894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31090894C>T	uc002eap.2	+	2	3538	c.3249C>T	c.(3247-3249)GTC>GTT	p.V1083V		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1083	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TCTGCCCTGTCTGCTCCCGCT	0.627		NaN											0	0	0	0.00361	0	129	272				
COX6A2	1339	broad.mit.edu	37	16	31439103	31439103	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31439103G>T	uc002ebx.1	-	3	361	c.286C>A	c.(286-288)CAC>AAC	p.H96N		NM_005205	NP_005196	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	96					generation of precursor metabolites and energy	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				0						CCTCAGGGGTGTTCGTAGCCC	0.682		NaN											1	0	2.7689e-08	0.001984	2.90865e-08	5	8				
ARMC5	79798	broad.mit.edu	37	16	31476086	31476086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31476086A>C	uc002ecc.2	+	4	2271	c.1742A>C	c.(1741-1743)GAG>GCG	p.E581A	ARMC5_uc010vfn.1_Missense_Mutation_p.E676A|ARMC5_uc010vfo.1_Missense_Mutation_p.E613A|ARMC5_uc002eca.3_Missense_Mutation_p.E581A|ARMC5_uc010vfp.1_Missense_Mutation_p.E389A|ARMC5_uc002ecb.2_Missense_Mutation_p.E581A	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	581							binding			pancreas(1)	1						GCCTGCCTCGAGGCCTTCGTG	0.716		NaN											0	0	0	0.001168	0	5	13				
CX3CL1	6376	broad.mit.edu	37	16	57416799	57416799	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57416799G>T	uc002eli.2	+	3	1116	c.1049G>T	c.(1048-1050)GGC>GTC	p.G350V		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	350	Helical; (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GCCTTCCTTGGCCTCCTCTTC	0.667		NaN											1	0	0.000132079	0.008871	0.000135122	14	2				
GPR56	9289	broad.mit.edu	37	16	57685294	57685294	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57685294G>T	uc002emb.2	+	4	539	c.247G>T	c.(247-249)GAC>TAC	p.D83Y	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.D83Y|GPR56_uc002emf.2_Missense_Mutation_p.D83Y|GPR56_uc010vhs.1_Missense_Mutation_p.D83Y|GPR56_uc002emd.2_Missense_Mutation_p.D83Y|GPR56_uc002eme.2_Missense_Mutation_p.D83Y|GPR56_uc010vht.1_Missense_Mutation_p.D88Y|GPR56_uc002emg.3_Missense_Mutation_p.D83Y|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	83	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						ATCCTTCCCTGACCCCAGGGG	0.577		NaN											1	0	1.52319e-26	0.00874	1.75813e-26	32	4				
SLC9A5	6553	broad.mit.edu	37	16	67290524	67290524	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67290524C>A	uc002esm.2	+	6	1127	c.1064C>A	c.(1063-1065)TCT>TAT	p.S355Y	SLC9A5_uc010cee.2_Missense_Mutation_p.S60Y|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	355					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGACTCTTCTAAGTGGGCC	0.537		NaN											1	0	5.41189e-41	0.00361	6.37933e-41	56	3				
ACD	65057	broad.mit.edu	37	16	67693135	67693135	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67693135C>T	uc002etq.3	-	6	1085	c.748G>A	c.(748-750)GCA>ACA	p.A250T	ACD_uc002etp.3_Missense_Mutation_p.A247T|ACD_uc002etr.3_Missense_Mutation_p.A247T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	250	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACAGTACCTGCATTGGACGAG	0.532		NaN											0	0	0	0.00361	0	67	4				
NFAT5	10725	broad.mit.edu	37	16	69729203	69729203	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:69729203C>A	uc002exm.1	+	13	5733	c.4525C>A	c.(4525-4527)CAG>AAG	p.Q1509K	NFAT5_uc002exi.2_Missense_Mutation_p.Q1433K|NFAT5_uc002exj.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exk.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exl.1_Missense_Mutation_p.Q1527K|NFAT5_uc002exn.1_Missense_Mutation_p.Q1526K|NFAT5_uc002exo.1_Intron	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1509					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AAACACCAACCAGAACATCGA	0.438		NaN											1	0	1.53716e-24	0.00361	1.77119e-24	45	0				
VAT1L	57687	broad.mit.edu	37	16	77896683	77896683	+	Silent	SNP	C	C	T	rs147711332		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:77896683C>T	uc002ffg.1	+	4	715	c.618C>T	c.(616-618)AAC>AAT	p.N206N		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	206							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CTGTCCCCAACGTGACTGTCT	0.478		NaN											0	0	0	0.00361	0	54	4				
OR1A2	26189	broad.mit.edu	37	17	3100986	3100986	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3100986C>T	uc002fvd.1	+	1	174	c.174C>T	c.(172-174)CCC>CCT	p.P58P		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TTCACAACCCCATGTATTTTC	0.463		NaN											0	0	0	0.00361	0	112	168				
TRPV1	7442	broad.mit.edu	37	17	3477062	3477062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3477062G>C	uc010vrr.1	-	12	2495	c.1968C>G	c.(1966-1968)TTC>TTG	p.F656L	TRPV1_uc010vro.1_Missense_Mutation_p.F667L|TRPV1_uc010vrp.1_Missense_Mutation_p.F596L|TRPV1_uc010vrq.1_Missense_Mutation_p.F654L|TRPV1_uc010vrs.1_Missense_Mutation_p.F656L|TRPV1_uc010vrt.1_Missense_Mutation_p.F656L|TRPV1_uc010vru.1_Missense_Mutation_p.F656L	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	656					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGACAGCCTTGAAGTCATAGT	0.527		NaN											0	0	0	0.00623	0	34	50				
ZZEF1	23140	broad.mit.edu	37	17	3919633	3919633	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3919633T>C	uc002fxe.2	-	49	8193	c.8129A>G	c.(8128-8130)AAC>AGC	p.N2710S	ZZEF1_uc002fxg.1_Missense_Mutation_p.N31S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2710							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTTGGTGTTGTTGTTATACGG	0.612		NaN											0	0	0	0.00361	0	37	48				
MINK1	50488	broad.mit.edu	37	17	4797304	4797304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:4797304C>T	uc010vsl.1	+	22	2782	c.2586C>T	c.(2584-2586)AGC>AGT	p.S862S	MINK1_uc010vsk.1_Silent_p.S833S|MINK1_uc010vsm.1_Silent_p.S842S|MINK1_uc010vsn.1_Silent_p.S825S|MINK1_uc010vso.1_Silent_p.S770S|MINK1_uc010vsp.1_Silent_p.S323S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	862					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						ATACAGACAGCGTCAGCACCA	0.657		NaN											0	0	0	0.008291	0	6	11				
KIAA0753	9851	broad.mit.edu	37	17	6493200	6493200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6493200C>T	uc002gde.3	-	18	3044	c.2685G>A	c.(2683-2685)ATG>ATA	p.M895I	KIAA0753_uc010vtd.1_Missense_Mutation_p.M351I|KIAA0753_uc010clo.2_Missense_Mutation_p.M596I|KIAA0753_uc010vte.1_Missense_Mutation_p.M596I	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	895						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTGCTGCATACCCGGTG	0.522		NaN											0	0	0	0.009535	0	24	30				
XAF1	54739	broad.mit.edu	37	17	6674105	6674105	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6674105A>T	uc002gdn.2	+	6	893	c.651A>T	c.(649-651)ATA>ATT	p.I217I	XAF1_uc002gdm.1_Silent_p.I157I|XAF1_uc002gdo.2_Silent_p.I198I|XAF1_uc002gdp.2_Silent_p.I166I|XAF1_uc002gdq.2_Silent_p.I49I|XAF1_uc002gdr.2_Silent_p.I147I	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	217					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CAAGAAGTATAAACAGATTTC	0.398		NaN											0	0	0	0.012319	0	18	13				
C17orf74	201243	broad.mit.edu	37	17	7330284	7330284	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7330284C>A	uc002ggw.2	+	3	1047	c.974C>A	c.(973-975)CCT>CAT	p.P325H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	325						integral to membrane					0		Prostate(122;0.157)				GAGCGCCCCCCTGCCTCGGTG	0.697		NaN											1	0	3.01185e-09	0.003954	3.19409e-09	23	12				
CHD3	1107	broad.mit.edu	37	17	7800409	7800409	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7800409C>G	uc002gje.2	+	11	1866	c.1716C>G	c.(1714-1716)ATC>ATG	p.I572M	CHD3_uc002gjd.2_Missense_Mutation_p.I631M|CHD3_uc002gjf.2_Missense_Mutation_p.I572M|CHD3_uc002gjg.1_Missense_Mutation_p.I400M	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	572	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				AGCTGGAAATCTTCCATTTGG	0.532		NaN											0	0	0	0.010729	0	9	43				
COX10	1352	broad.mit.edu	37	17	13977769	13977769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:13977769G>A	uc002gof.3	+	2	377	c.173G>A	c.(172-174)CGC>CAC	p.R58H	COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	58					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTCCTCAAACGCATGGTATGT	0.348		NaN											0	0	0	0.00361	0	77	110				
RAI1	10743	broad.mit.edu	37	17	17697690	17697690	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:17697690T>G	uc002grm.2	+	3	1897	c.1428T>G	c.(1426-1428)CAT>CAG	p.H476Q	RAI1_uc002grn.1_Missense_Mutation_p.H476Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	476						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGAGCAGCATAAAAGCCAGC	0.627		NaN											0	0	0	0.001855	0	9	27				
CCDC144B	284047	broad.mit.edu	37	17	18513402	18513402	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:18513402C>A	uc002gub.1	-	3	704	c.619G>T	c.(619-621)GAC>TAC	p.D207Y	CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D207Y	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2						TGGCACAGGTCATGGAGAGTA	0.433		NaN											1	0	1.61004e-24	0.00361	1.85196e-24	42	95				
MAPK7	5598	broad.mit.edu	37	17	19286175	19286175	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:19286175G>A	uc002gvn.2	+	6	2599	c.2213G>A	c.(2212-2214)GGG>GAG	p.G738E	MAPK7_uc002gvo.2_Missense_Mutation_p.G599E|MAPK7_uc002gvq.2_Missense_Mutation_p.G738E|MAPK7_uc002gvp.2_Missense_Mutation_p.G738E|uc010vyt.1_5'Flank	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	738	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor 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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGGGCAGTGGGGCTGGCTAC	0.577		NaN											0	0	0	0.00361	0	60	68				
ACACA	31	broad.mit.edu	37	17	35454054	35454054	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:35454054C>G	uc002hnm.2	-	54	6848	c.6657G>C	c.(6655-6657)CTG>CTC	p.L2219L	ACACA_uc002hnk.2_Silent_p.L2141L|ACACA_uc002hnl.2_Silent_p.L2161L|ACACA_uc002hnn.2_Silent_p.L2219L|ACACA_uc002hno.2_Silent_p.L2256L|ACACA_uc010cuy.2_Silent_p.L864L|ACACA_uc010wdb.1_Silent_p.L257L|ACACA_uc010wdc.1_Silent_p.L345L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2219					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGACGCCTCAGCCGCCAGT	0.488		NaN											0	0	0	0.00278	0	19	11				
KRT222	125113	broad.mit.edu	37	17	38812797	38812797	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:38812797G>C	uc002hvc.2	-	6	810	c.745C>G	c.(745-747)CTT>GTT	p.L249V	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.L209V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	249						intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2						TCAAATCGAAGAGAAACAGAC	0.363		NaN											0	0	0	0.004656	0	23	34				
KRTAP3-1	83896	broad.mit.edu	37	17	39165064	39165064	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39165064G>A	uc002hvt.1	-	1	303	c.263C>T	c.(262-264)CCT>CTT	p.P88L		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	keratin associated protein 3.1	88						keratin filament	structural molecule activity				0		Breast(137;0.00043)				CTCACAGCCAGGCTGAACATA	0.582		NaN											0	0	0	0.002299	0	19	42				
KRT36	8689	broad.mit.edu	37	17	39646100	39646100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39646100C>T	uc002hwt.2	-	1	17	c.17G>A	c.(16-18)TGC>TAC	p.C6Y		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	6	Head.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				GGTAGGGGTGCAGGTCTGGGT	0.582		NaN											0	0	0	0.006214	0	9	37				
ATP6V0A1	535	broad.mit.edu	37	17	40635081	40635081	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40635081C>A	uc002hzr.2	+	9	909	c.742C>A	c.(742-744)CCT>ACT	p.P248T	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P248T|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P255T|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.P107T	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	248	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTATCCCTGTCCTGAGACACC	0.408		NaN											1	0	3.51602e-12	0.008871	3.82001e-12	16	50				
IMP5	162540	broad.mit.edu	37	17	43922946	43922946	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:43922946G>A	uc010wka.1	+	1	674	c.674G>A	c.(673-675)GGT>GAT	p.G225D	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	225	Cytoplasmic (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGGGGTCTGGTGGTCACCAT	0.652		NaN											0	0	0	0.004482	0	9	12				
MAPT	4137	broad.mit.edu	37	17	44067379	44067379	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:44067379A>G	uc002ijr.3	+	8	1638	c.1318A>G	c.(1318-1320)AAA>GAA	p.K440E	MAPT_uc010dau.2_Missense_Mutation_p.K440E|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	440					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				TTCCTCTCCTAAATACGTCTC	0.537		NaN											0	0	0	0.00361	0	107	117				
KPNB1	3837	broad.mit.edu	37	17	45752045	45752045	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:45752045C>G	uc002ilt.1	+	15	2145	c.1809C>G	c.(1807-1809)ATC>ATG	p.I603M	KPNB1_uc010wkw.1_Missense_Mutation_p.I458M|KPNB1_uc010wkx.1_Missense_Mutation_p.I387M	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	603	HEAT 7.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTTTGCAGATCTCTGATGTGG	0.463		NaN											0	0	0	0.004007	0	13	200				
LPO	4025	broad.mit.edu	37	17	56327830	56327830	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:56327830G>A	uc002ivt.2	+	7	944	c.628G>A	c.(628-630)GAC>AAC	p.D210N	LPO_uc010dco.2_Missense_Mutation_p.D210N|LPO_uc010wnr.1_Missense_Mutation_p.D127N|LPO_uc010wns.1_Missense_Mutation_p.D151N|LPO_uc010dcp.2_Missense_Mutation_p.D127N|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	210					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GGGTGTTCTGGACCAAAACAG	0.527		NaN											0	0	0	0.005443	0	24	47				
MRC2	9902	broad.mit.edu	37	17	60755974	60755974	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:60755974A>T	uc002jad.2	+	13	2564	c.2162A>T	c.(2161-2163)CAC>CTC	p.H721L	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	721	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGGAGGAGCACTTTGTGGCC	0.647		NaN											0	0	0	0.010729	0	10	38				
CCDC46	201134	broad.mit.edu	37	17	63848079	63848079	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:63848079T>G	uc002jfl.2	-	21	2456	c.2237A>C	c.(2236-2238)CAG>CCG	p.Q746P	CCDC46_uc010deo.2_Missense_Mutation_p.Q488P|CCDC46_uc002jfm.2_Missense_Mutation_p.Q746P|CCDC46_uc010dep.2_Missense_Mutation_p.Q704P	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	746	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TACCAGCTGCTGTTTCCGCTG	0.403		NaN											0	0	0	0.005524	0	30	15				
KCNJ2	3759	broad.mit.edu	37	17	68171368	68171368	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:68171368A>G	uc010dfg.2	+	2	589	c.188A>G	c.(187-189)GAG>GGG	p.E63G	KCNJ2_uc002jir.2_Missense_Mutation_p.E63G	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	63	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					AATGTGGGTGAGAAGGGGCAA	0.527		NaN											0	0	0	0.004482	0	6	75				
ITGB4	3691	broad.mit.edu	37	17	73746222	73746222	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:73746222T>A	uc002jpg.2	+	28	3534	c.3347T>A	c.(3346-3348)ATG>AAG	p.M1116K	ITGB4_uc002jph.2_Missense_Mutation_p.M1116K|ITGB4_uc002jpi.3_Missense_Mutation_p.M1116K|ITGB4_uc002jpj.2_Missense_Mutation_p.M1116K	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1116	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)			ACGAGTCAGATGTTGTCATCA	0.632		NaN									OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	18	78				
DNAH17	8632	broad.mit.edu	37	17	76554223	76554223	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:76554223G>A	uc002jvv.1	-	10	1357	c.1251C>T	c.(1249-1251)GGC>GGT	p.G417G						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTGCCCACAAACT	0.433		NaN											0	0	0	0.008871	0	13	11				
CARD14	79092	broad.mit.edu	37	17	78179329	78179329	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:78179329G>C	uc002jxw.1	+	19	2765	c.2570_splice	c.e19-1	p.E857_splice	CARD14_uc002jxt.1_Splice_Site	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1						activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCACCTGTAGAGTACTTGAG	0.632		NaN											0	0	0	0.009096	0	3	8				
PCYT2	5833	broad.mit.edu	37	17	79866776	79866776	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:79866776T>G	uc002kcf.1	-	3	379	c.316A>C	c.(316-318)AAC>CAC	p.N106H	PCYT2_uc010wva.1_Missense_Mutation_p.N74H|PCYT2_uc010wvb.1_Missense_Mutation_p.N74H|PCYT2_uc002kce.1_Missense_Mutation_p.N28H|PCYT2_uc002kcg.1_Missense_Mutation_p.N117H|PCYT2_uc002kch.1_Missense_Mutation_p.N106H|PCYT2_uc002kci.1_Missense_Mutation_p.N47H|PCYT2_uc010dii.1_Missense_Mutation_p.N106H|PCYT2_uc010wvc.1_Missense_Mutation_p.N28H	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	106	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AAGTCACAGTTGTATTTGTCC	0.587		NaN											0	0	0	0.00632	0	20	44				
TBCD	6904	broad.mit.edu	37	17	80772748	80772748	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:80772748G>T	uc002kfz.2	+	13	1386	c.1256G>T	c.(1255-1257)GGA>GTA	p.G419V	TBCD_uc002kfx.1_Missense_Mutation_p.G402V|TBCD_uc002kfy.1_Missense_Mutation_p.G419V	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	419					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGGCATGGGGGATGTCTGGCG	0.602		NaN											1	0	5.04308e-16	0.00623	5.62595e-16	28	16				
SMCHD1	23347	broad.mit.edu	37	18	2688390	2688390	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:2688390A>G	uc002klm.3	+	6	828	c.639_splice	c.e6-2	p.S213_splice		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible						chromosome organization		ATP binding				0						GTTTTATTTTAGTGATCATTC	0.358		NaN											0	0	0	0.005524	0	30	32				
KIAA0802	23255	broad.mit.edu	37	18	8784103	8784103	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:8784103G>T	uc002knr.2	+	6	1135	c.993G>T	c.(991-993)GGG>GGT	p.G331G	KIAA0802_uc002knq.2_Silent_p.G331G|KIAA0802_uc010dkw.1_Silent_p.G169G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	682	Potential.										0						CCGGGGGTGGGGCCCCCCTGC	0.642		NaN											1	0	3.43241e-23	0.009718	3.93458e-23	36	31				
POTEC	388468	broad.mit.edu	37	18	14542642	14542642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:14542642C>G	uc010dln.2	-	1	958	c.504G>C	c.(502-504)AAG>AAC	p.K168N	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	168	ANK 1.									skin(3)	3						GCTTGTCCCTCTTGTTCATGT	0.597		NaN											0	0	0	0.00361	0	102	114				
SS18	6760	broad.mit.edu	37	18	23637560	23637560	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637560C>G	uc002kvm.2	-	4	456	c.378G>C	c.(376-378)CAG>CAC	p.Q126H	SS18_uc002kvn.2_Missense_Mutation_p.Q126H|SS18_uc010xbf.1_Missense_Mutation_p.Q44H|SS18_uc010xbg.1_Missense_Mutation_p.Q74H|SS18_uc010xbh.1_Missense_Mutation_p.Q74H|SS18_uc010xbi.1_Missense_Mutation_p.Q103H|SS18_uc010dlz.1_Missense_Mutation_p.Q74H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	126	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TACCAGGCATCTGGCCGTTCA	0.522		NaN	T	SSX1| SSX2	synovial sarcoma								0	0	0	0.011902	0	34	46				
SS18	6760	broad.mit.edu	37	18	23637569	23637569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637569C>T	uc002kvm.2	-	4	447	c.369G>A	c.(367-369)ATG>ATA	p.M123I	SS18_uc002kvn.2_Missense_Mutation_p.M123I|SS18_uc010xbf.1_Missense_Mutation_p.M41I|SS18_uc010xbg.1_Missense_Mutation_p.M71I|SS18_uc010xbh.1_Missense_Mutation_p.M71I|SS18_uc010xbi.1_Missense_Mutation_p.M100I|SS18_uc010dlz.1_Missense_Mutation_p.M71I	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	123	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCTGGCCGTTCATCTGGTTCT	0.522		NaN	T	SSX1| SSX2	synovial sarcoma								0	0	0	0.00361	0	39	49				
DSG1	1828	broad.mit.edu	37	18	28926104	28926104	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:28926104G>C	uc002kwp.2	+	14	2255	c.2043G>C	c.(2041-2043)ATG>ATC	p.M681I	DSG1_uc010xbp.1_Missense_Mutation_p.M40I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	681	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAATTCTATGAGGGAATGTA	0.418		NaN											0	0	0	0.00361	0	40	44				
C18orf10	25941	broad.mit.edu	37	18	34378506	34378506	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:34378506G>C	uc002kzw.1	-	6	991	c.563C>G	c.(562-564)ACC>AGC	p.T188S	C18orf10_uc002kzv.1_Missense_Mutation_p.T188S|C18orf10_uc010xci.1_Missense_Mutation_p.T153S|C18orf10_uc002kzx.1_Missense_Mutation_p.T145S|C18orf10_uc002kzy.3_Missense_Mutation_p.T188S	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	188						cytoplasm|microtubule				skin(1)	1						GGCAGTAAAGGTGTCTGTGAG	0.493		NaN											0	0	0	0.00361	0	62	62				
RNF165	494470	broad.mit.edu	37	18	44035973	44035973	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:44035973G>A	uc002lcb.1	+	7	904	c.853G>A	c.(853-855)GGG>AGG	p.G285R	RNF165_uc002lby.1_Missense_Mutation_p.G218R|RNF165_uc010dnn.1_Missense_Mutation_p.G81R	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	285							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		GAAGGATGAGGGGGAGGAGTC	0.507		NaN											0	0	0	0.00278	0	17	20				
SERPINB7	8710	broad.mit.edu	37	18	61465923	61465923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:61465923G>C	uc002ljl.2	+	6	636	c.540G>C	c.(538-540)AAG>AAC	p.K180N	SERPINB7_uc002ljm.2_Missense_Mutation_p.K180N|SERPINB7_uc010xet.1_Missense_Mutation_p.K163N|SERPINB7_uc010dqg.2_Missense_Mutation_p.K180N	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	180					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				TCAAAGGCAAGTGGCAATCAG	0.393		NaN											0	0	0	0.010771	0	37	114				
RTTN	25914	broad.mit.edu	37	18	67788894	67788894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:67788894C>T	uc002lkp.2	-	26	3494	c.3426G>A	c.(3424-3426)CTG>CTA	p.L1142L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L230L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1142							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TATCTATTAGCAGTTTCTCAT	0.308		NaN											0	0	0	0.004672	0	3	1				
TSHZ1	10194	broad.mit.edu	37	18	72999303	72999303	+	Silent	SNP	G	G	A	rs141313878	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:72999303G>A	uc002lly.2	+	2	2369	c.1806G>A	c.(1804-1806)ACG>ACA	p.T602T		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	647						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGGTCACGGGCAAGGTCA	0.602		NaN											0	0	0	0.003954	0	22	18				
ZNF236	7776	broad.mit.edu	37	18	74580691	74580691	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74580691G>A	uc002lmi.2	+	4	606	c.408G>A	c.(406-408)CTG>CTA	p.L136L	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.L136L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	136	C2H2-type 4.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAGTCAGCTGGCCGTGCACA	0.557		NaN											0	0	0	0.00361	0	78	72				
MBP	4155	broad.mit.edu	37	18	74700837	74700837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74700837C>T	uc010xfd.1	-	6	977	c.713G>A	c.(712-714)GGA>GAA	p.G238E	MBP_uc002lml.2_Missense_Mutation_p.G131E|MBP_uc002lmn.2_Missense_Mutation_p.G131E|MBP_uc002lmp.2_Missense_Mutation_p.G105E|MBP_uc010xfe.1_Missense_Mutation_p.G105E|MBP_uc010dqz.2_5'Flank	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	238					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TCTTACCTTTCCCTGCGACGG	0.522		NaN											0	0	0	0.00361	0	82	104				
PRSSL1	400668	broad.mit.edu	37	19	691938	691938	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:691938G>T	uc002lpl.1	-	3	332	c.301C>A	c.(301-303)CAG>AAG	p.Q101K	PRSSL1_uc010xfs.1_Missense_Mutation_p.Q100K	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	101	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|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)		CCAAACACCTGCTGGGTGGGC	0.672		NaN											1	0	6.94344e-10	0.006122	7.41079e-10	16	23				
DOT1L	84444	broad.mit.edu	37	19	2216762	2216762	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:2216762G>A	uc002lvb.3	+	20	2442	c.2406G>A	c.(2404-2406)TCG>TCA	p.S802S	DOT1L_uc002lvc.1_Silent_p.S96S|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.S96S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	802						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		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)		AGCTGCATTCGAGGTGAGTGC	0.652		NaN											0	0	0	0.008361	0	23	96				
CREB3L3	84699	broad.mit.edu	37	19	4168393	4168393	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4168393A>G	uc002lzl.2	+	6	876	c.760A>G	c.(760-762)AAG>GAG	p.K254E	CREB3L3_uc002lzm.2_Missense_Mutation_p.K244E|CREB3L3_uc010xib.1_Missense_Mutation_p.K243E|CREB3L3_uc010xic.1_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	254	Basic motif.|Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCCGGAACAAGCAGTCGGC	0.413		NaN											0	0	0	0.010504	0	19	16				
SH3GL1	6455	broad.mit.edu	37	19	4361711	4361711	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4361711G>A	uc002maj.2	-	10	1099	c.993C>T	c.(991-993)GAC>GAT	p.D331D	SH3GL1_uc002mak.2_Silent_p.D267D|SH3GL1_uc010xig.1_Silent_p.D283D	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	331	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCGTGATGACGTCGCCCTCAT	0.662		NaN	T	MLL	AL								0	0	0	0.008291	0	6	120				
PLIN4	729359	broad.mit.edu	37	19	4504533	4504533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4504533G>A	uc002mar.1	-	6	4012	c.4012C>T	c.(4012-4014)CAG>TAG	p.Q1338*	PLIN4_uc010dub.1_Nonsense_Mutation_p.Q362*	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1338						lipid particle|plasma membrane					0						GGATTGTGCTGTAGGCCCTCC	0.701		NaN											0	0	0	0.010818	0	22	5				
DENND1C	79958	broad.mit.edu	37	19	6479898	6479898	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6479898C>A	uc002mfe.2	-	3	190	c.98G>T	c.(97-99)CGG>CTG	p.R33L	DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	33	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						AGGGAACTGCCGCAGGATGGG	0.642		NaN											1	0	0.00448238	0.004482	0.00456463	6	4				
TUBB4	10382	broad.mit.edu	37	19	6501571	6501571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6501571C>T	uc002mfg.1	-	2	228	c.121G>A	c.(121-123)GAC>AAC	p.D41N	TUBB4_uc002mff.1_5'UTR	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	41					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		AGTTGCAGGTCACTGTCCCCA	0.572		NaN											0	0	0	0.00361	0	127	36				
ARHGEF18	23370	broad.mit.edu	37	19	7518383	7518383	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7518383A>T	uc002mgi.2	+	7	1575	c.1322A>T	c.(1321-1323)CAG>CTG	p.Q441L	ARHGEF18_uc010xjm.1_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgh.2_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgj.1_Missense_Mutation_p.Q84L	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	441	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GACCTGACCCAGGCCTTGAAC	0.507		NaN											0	0	0	0.004656	0	21	88				
CD209	30835	broad.mit.edu	37	19	7810492	7810492	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810492G>A	uc002mht.2	-	4	727	c.660C>T	c.(658-660)ACC>ACT	p.T220T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T196T|CD209_uc002mhr.2_Silent_p.T196T|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T220T|CD209_uc002mhq.2_Silent_p.T220T|CD209_uc002mhv.2_Silent_p.T196T|CD209_uc002mhx.2_Silent_p.T176T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	220	Extracellular (Probable).|6.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						CCTTCAGCCGGGTCAGCTCCT	0.567		NaN											0	0	0	0.001168	0	4	108				
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810561G>A	uc002mht.2	-	4	658	c.591C>T	c.(589-591)ACC>ACT	p.T197T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	197	Extracellular (Probable).|5.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						CCTTCAGCCGGGTCAGCTCCT	0.567		NaN											0	0	0	0.00308	0	5	107				
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810766C>T	uc002mht.2	-	4	453	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						AGCCTTCAGCCGGGTCAGCTC	0.567		NaN											0	0	0	0.006214	0	7	214				
FBN3	84467	broad.mit.edu	37	19	8182137	8182137	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8182137C>T	uc002mjf.2	-	27	3523	c.3502G>A	c.(3502-3504)GTG>ATG	p.V1168M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1168	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ATACAGTGCACGTCACACCCA	0.473		NaN											0	0	0	0.009718	0	31	148				
ZNF558	148156	broad.mit.edu	37	19	8922561	8922561	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8922561T>G	uc002mkn.1	-	6	835	c.605A>C	c.(604-606)CAT>CCT	p.H202P	ZNF558_uc010xkh.1_Missense_Mutation_p.H131P|ZNF558_uc010dwg.1_Missense_Mutation_p.H202P	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	202	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CTCCCCATTATGGATTCTCTT	0.413		NaN											0	0	0	0.006122	0	14	63				
MUC16	94025	broad.mit.edu	37	19	8969284	8969284	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8969284C>G	uc002mkp.2	-	79	43264	c.43060G>C	c.(43060-43062)GAG>CAG	p.E14354Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E1154Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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						ACCGCATCCTCAATATTCCTT	0.463		NaN											0	0	0	0.00361	0	46	222				
MUC16	94025	broad.mit.edu	37	19	9058783	9058783	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9058783T>C	uc002mkp.2	-	3	28867	c.28663A>G	c.(28663-28665)ATA>GTA	p.I9555V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9557	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						TTGTCTCTTATAGAGGAAGAG	0.488		NaN											0	0	0	0.00361	0	39	8				
MUC16	94025	broad.mit.edu	37	19	9065491	9065491	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9065491C>G	uc002mkp.2	-	3	22159	c.21955G>C	c.(21955-21957)GCA>CCA	p.A7319P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7321	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						GATGATTCTGCCAGGATGGGG	0.453		NaN											0	0	0	0.002836	0	30	10				
MUC16	94025	broad.mit.edu	37	19	9086871	9086871	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9086871G>T	uc002mkp.2	-	1	5148	c.4944C>A	c.(4942-4944)GCC>GCA	p.A1648A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1648	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						TGGGAAGGTGGGCTATGCCCA	0.517		NaN											1	0	3.47496e-60	0.00361	4.12536e-60	118	34				
COL5A3	50509	broad.mit.edu	37	19	10084485	10084485	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10084485C>T	uc002mmq.1	-	49	3645	c.3559G>A	c.(3559-3561)GGC>AGC	p.G1187S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1187	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)			CCTGGAGTGCCCTGGAGAGAC	0.592		NaN											0	0	0	0.00361	0	93	39				
COL5A3	50509	broad.mit.edu	37	19	10116261	10116261	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10116261G>A	uc002mmq.1	-	4	653	c.567C>T	c.(565-567)ACC>ACT	p.T189T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	189	TSP N-terminal.				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)			CAAGGTCCTGGGTCCCCAGCA	0.562		NaN											0	0	0	0.001168	0	3	71				
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225253	10225253	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10225253A>G	uc002mna.2	+	13	2224	c.2224A>G	c.(2224-2226)ATG>GTG	p.M742V	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.M322V	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCTACTCTACATGGCCGCAGT	0.682		NaN											0	0	0	0.004656	0	21	89				
PRKCSH	5589	broad.mit.edu	37	19	11558507	11558507	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:11558507G>A	uc002mrt.2	+	12	1345	c.1009_splice	c.e12-1	p.E337_splice	PRKCSH_uc002mru.2_Intron|PRKCSH_uc010xlz.1_Splice_Site_p.E344_splice|PRKCSH_uc010dya.2_Splice_Site_p.E119_splice|PRKCSH_uc010dyb.2_Intron	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1						innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CCCTGCCCCAGGAGGCCCCAC	0.667		NaN											0	0	0	0.006214	0	7	4				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12155673A>C	uc002mta.1	-	5	684	c.684T>G	c.(682-684)AGT>AGG	p.S228R		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	181	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AACTGGGAAAACTGAATGCTT	0.403		NaN											0	0	0	0.00308	0	8	179				
MAST1	22983	broad.mit.edu	37	19	12984213	12984213	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12984213G>T	uc002mvm.2	+	25	3467	c.3339G>T	c.(3337-3339)TCG>TCT	p.S1113S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1113					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CGCTGTCGTCGCTGAACCGCT	0.667		NaN											1	0	1.55795e-14	0.012319	1.72072e-14	17	14				
FARSA	2193	broad.mit.edu	37	19	13039382	13039382	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13039382C>A	uc002mvs.2	-	6	740	c.692G>T	c.(691-693)CGC>CTC	p.R231L	FARSA_uc002mvt.2_Intron|FARSA_uc010xmv.1_Missense_Mutation_p.R200L|FARSA_uc010dyy.1_Missense_Mutation_p.R152L	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	231					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)	GAACTGGGAGCGGACCTTGAG	0.657		NaN											1	0	5.60225e-13	0.009535	6.1266e-13	25	13				
NFIX	4784	broad.mit.edu	37	19	13201190	13201190	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13201190C>A	uc010xmx.1	+	10	1557	c.1504C>A	c.(1504-1506)CCA>ACA	p.P502T	NFIX_uc002mwd.2_3'UTR|NFIX_uc002mwe.2_3'UTR|NFIX_uc002mwf.2_3'UTR|NFIX_uc002mwg.1_3'UTR			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	494					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TCTGAACATCCCACAGCAGTC	0.622		NaN											1	0	2.21704e-12	0.00278	2.41266e-12	17	59				
CACNA1A	773	broad.mit.edu	37	19	13325352	13325352	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13325352G>T	uc010dze.2	-	39	6041	c.5805C>A	c.(5803-5805)TCC>TCA	p.S1935S	CACNA1A_uc010xnd.1_Silent_p.S640S|CACNA1A_uc002mwx.3_Silent_p.S640S|CACNA1A_uc010dzc.2_Silent_p.S1460S|CACNA1A_uc002mwy.3_Silent_p.S1934S|CACNA1A_uc002mwv.3_Silent_p.S451S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1935	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTCTTCTGGGACAGATTGG	0.582		NaN											1	0	7.41945e-09	0.005443	7.8186e-09	19	13				
LPHN1	22859	broad.mit.edu	37	19	14263685	14263685	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14263685A>T	uc010xnn.1	-	20	3645	c.3349T>A	c.(3349-3351)TGC>AGC	p.C1117S	LPHN1_uc010xno.1_Missense_Mutation_p.C1112S|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1117	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CGGATGCAGCAGTAGGAGTGA	0.627		NaN											0	0	0	0.00361	0	41	109				
TECR	9524	broad.mit.edu	37	19	14640523	14640523	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14640523G>A	uc002mza.2	+	1	142	c.15G>A	c.(13-15)GAG>GAA	p.E5E	DNAJB1_uc010xnr.1_5'Flank|TECR_uc002mzb.2_5'UTR|TECR_uc010xns.1_5'UTR|TECR_uc002mzc.2_5'UTR|TECR_uc002mzd.2_Silent_p.E5E	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	5					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						AGCATTACGAGGTAAGAAGCG	0.622		NaN											0	0	0	0.004482	0	5	36				
MYO9B	4650	broad.mit.edu	37	19	17312810	17312810	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:17312810A>T	uc010eak.2	+	27	4791	c.4639A>T	c.(4639-4641)ATC>TTC	p.I1547F	MYO9B_uc002nfi.2_Missense_Mutation_p.I1547F|MYO9B_uc002nfj.1_Missense_Mutation_p.I1547F|MYO9B_uc002nfl.1_Missense_Mutation_p.I96F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1547	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CAGGAGCAACATCAAAACGAT	0.567		NaN											0	0	0	0.003163	0	11	7				
ATP13A1	57130	broad.mit.edu	37	19	19756542	19756542	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:19756542C>G	uc002nnh.3	-	25	3446	c.3418G>C	c.(3418-3420)GTT>CTT	p.V1140L	GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.V280L|ATP13A1_uc002nnf.3_Missense_Mutation_p.V508L|ATP13A1_uc002nng.2_Missense_Mutation_p.V1022L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1140	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						AGGAGTGAAACTGCCAGACTC	0.637		NaN											0	0	0	0.004672	0	2	2				
ZNF626	199777	broad.mit.edu	37	19	20808090	20808090	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:20808090C>T	uc002npb.1	-	4	743	c.593G>A	c.(592-594)GGG>GAG	p.G198E	ZNF626_uc002npc.1_Missense_Mutation_p.G122E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTAGGGTTTCCCTCCAGTATG	0.363		NaN											0	0	0	0.004672	0	3	15				
ZNF493	284443	broad.mit.edu	37	19	21606522	21606522	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:21606522A>G	uc002npx.2	+	2	957	c.677A>G	c.(676-678)TAT>TGT	p.Y226C	ZNF493_uc002npw.2_Missense_Mutation_p.Y354C|ZNF493_uc002npy.2_Missense_Mutation_p.Y226C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	226	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGAAGAATATTGCAAAGCT	0.358		NaN											0	0	0	0.004672	0	3	41				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:22155896A>C	uc002nqp.2	-	5	1789	c.1640T>G	c.(1639-1641)ATT>AGT	p.I547S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398		NaN											0	0	0	0.001168	0	3	63				
ZNF507	22847	broad.mit.edu	37	19	32845599	32845599	+	Missense_Mutation	SNP	C	C	G	rs139741881	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:32845599C>G	uc002nte.2	+	3	2135	c.1863C>G	c.(1861-1863)AGC>AGG	p.S621R	ZNF507_uc002ntc.2_Missense_Mutation_p.S621R|ZNF507_uc010xrn.1_Missense_Mutation_p.S621R|ZNF507_uc002ntd.2_Missense_Mutation_p.S621R	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					AACCCAACAGCGATACAAGTT	0.488		NaN											0	0	0	0.004007	0	12	165				
ZFP14	57677	broad.mit.edu	37	19	36831467	36831467	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:36831467C>T	uc002odx.1	-	4	1354	c.1261G>A	c.(1261-1263)GAG>AAG	p.E421K	ZFP14_uc010xtd.1_Missense_Mutation_p.E422K|ZFP14_uc010eex.1_Missense_Mutation_p.E421K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					TAGGGTCTCTCACCAATATGA	0.403		NaN											0	0	0	0.009535	0	27	105				
FCGBP	8857	broad.mit.edu	37	19	40354440	40354440	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:40354440C>T	uc002omp.3	-	35	16037	c.16029G>A	c.(16027-16029)AAG>AAA	p.K5343K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5343	VWFD 13.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCCCTGCCTTCTGGCGGA	0.572		NaN											0	0	0	0.004656	0	19	1				
LTBP4	8425	broad.mit.edu	37	19	41115484	41115484	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:41115484G>A	uc002ooh.1	+	13	1676	c.1676G>A	c.(1675-1677)GGA>GAA	p.G559E	LTBP4_uc002oog.1_Missense_Mutation_p.G522E|LTBP4_uc002ooi.1_Missense_Mutation_p.G492E|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	559	Pro-rich.|EGF-like 3.|Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCGGCCCAGGACGCTGCATT	0.667		NaN											0	0	0	0.00361	0	48	2				
CEACAM21	90273	broad.mit.edu	37	19	42092192	42092192	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:42092192G>A	uc002ore.3	+	6	947	c.851_splice	c.e6-1	p.G284_splice	CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.3_Splice_Site_p.G283_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion							integral to membrane				ovary(1)	1						TCTGTCCCCAGGCCATGGACC	0.587		NaN											0	0	0	0.010504	0	15	1				
PRKD2	25865	broad.mit.edu	37	19	47178362	47178362	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:47178362G>C	uc002pfh.2	-	18	2694	c.2352C>G	c.(2350-2352)ATC>ATG	p.I784M	PRKD2_uc002pfd.2_Missense_Mutation_p.I158M|PRKD2_uc010eks.2_Missense_Mutation_p.I187M|PRKD2_uc010ekt.2_Missense_Mutation_p.I51M|PRKD2_uc002pfe.2_Missense_Mutation_p.I314M|PRKD2_uc002pff.2_Missense_Mutation_p.I304M|PRKD2_uc002pfg.2_Missense_Mutation_p.I627M|PRKD2_uc002pfi.2_Missense_Mutation_p.I784M|PRKD2_uc002pfj.2_Missense_Mutation_p.I784M|PRKD2_uc010xye.1_Missense_Mutation_p.I794M|PRKD2_uc002pfk.2_Missense_Mutation_p.I627M	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	784	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCAGGTTGTTGATGAGGTCAA	0.572		NaN											0	0	0	0.003163	0	13	0				
IL4I1	259307	broad.mit.edu	37	19	50393824	50393824	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:50393824C>A	uc002pqt.1	-	8	885	c.807G>T	c.(805-807)CTG>CTT	p.L269L	IL4I1_uc002pqv.1_Silent_p.L278L|IL4I1_uc010eno.1_Silent_p.L277L|IL4I1_uc002pqw.1_Silent_p.L277L|IL4I1_uc002pqu.1_Silent_p.L291L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	269						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCGCGCGCGGCAGCAGGTCCC	0.721		NaN											1	0	9.95505e-16	0.002299	1.10686e-15	14	1				
SYT3	84258	broad.mit.edu	37	19	51140567	51140567	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51140567C>T	uc002pst.2	-	1	736	c.102G>A	c.(100-102)CAG>CAA	p.Q34Q	SYT3_uc002psv.2_Silent_p.Q34Q|SYT3_uc010ycd.1_Silent_p.Q34Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	34	Vesicular (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CATTGAACTCCTGGCACCTGT	0.627		NaN											0	0	0	0.00361	0	130	3				
SHANK1	50944	broad.mit.edu	37	19	51205873	51205873	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51205873C>T	uc002psx.1	-	11	1617	c.1598G>A	c.(1597-1599)GGC>GAC	p.G533D		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	533					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCCCTGAGCCCCCCGTGCC	0.716		NaN											0	0	0	0.004482	0	6	0				
ACPT	93650	broad.mit.edu	37	19	51298162	51298162	+	Missense_Mutation	SNP	C	C	T	rs140557537	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51298162C>T	uc002pta.1	+	10	1106	c.1106C>T	c.(1105-1107)GCC>GTC	p.A369V		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	369	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGCCCCGGCCCGGCCTCCC	0.692		NaN											0	0	0	0.00361	0	241	3				
ZNF528	84436	broad.mit.edu	37	19	52918824	52918824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:52918824C>T	uc002pzh.2	+	7	1145	c.719C>T	c.(718-720)CCT>CTT	p.P240L	ZNF528_uc002pzi.2_Missense_Mutation_p.P7L	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGAGAGAAGCCTTACAAATGT	0.388		NaN											0	0	0	0.010729	0	9	55				
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014565G>A	uc002pzp.3	+	6	1175	c.931G>A	c.(931-933)GGT>AGT	p.G311S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418		NaN											0	0	0	0.004672	0	3	126				
ZNF578	147660	broad.mit.edu	37	19	53014626	53014626	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014626C>G	uc002pzp.3	+	6	1236	c.992C>G	c.(991-993)ACA>AGA	p.T331R		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	106	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTACATGCCATCAT	0.423		NaN											0	0	0	0.009096	0	3	132				
ZNF808	388558	broad.mit.edu	37	19	53057047	53057047	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53057047G>C	uc010epq.1	+	5	1055	c.878G>C	c.(877-879)GGA>GCA	p.G293A	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	293	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AAAGAGTGTGGAAAGTCCTTC	0.408		NaN											0	0	0	0.001168	0	4	180				
VN1R4	317703	broad.mit.edu	37	19	53770252	53770252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53770252G>T	uc010ydu.1	-	1	667	c.667C>A	c.(667-669)CCC>ACC	p.P223T		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	223	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		GAGGCTCTGGGGGAGAGATTG	0.537		NaN								HNSCC(26;0.072)			1	0	7.92952e-12	0.003954	8.58709e-12	21	2				
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	Missense_Mutation	SNP	A	A	G	rs147132093		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53958879A>G	uc010eqp.2	+	7	1576	c.1118A>G	c.(1117-1119)CAT>CGT	p.H373R	ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	373	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428		NaN											0	0	0	0.001368	0	10	288				
LILRA4	23547	broad.mit.edu	37	19	54848849	54848849	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:54848849C>T	uc002qfj.2	-	5	831	c.774G>A	c.(772-774)GAG>GAA	p.E258E	LILRA4_uc002qfi.2_Silent_p.E192E	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	258	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATCGGCCCCCTCCTTGTACA	0.677		NaN											0	0	0	0.00623	0	34	1				
PTPRH	5794	broad.mit.edu	37	19	55718252	55718252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:55718252G>T	uc002qjq.2	-	3	230	c.157C>A	c.(157-159)CCC>ACC	p.P53T	PTPRH_uc010esv.2_Missense_Mutation_p.P53T|PTPRH_uc002qjs.2_Missense_Mutation_p.P60T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	53	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGCCATCGGGGACCTCCCAG	0.567		NaN											1	0	5.12918e-33	0.00361	6.02475e-33	53	2				
ZNF776	284309	broad.mit.edu	37	19	58265844	58265844	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58265844A>G	uc002qpx.2	+	3	1569	c.1346A>G	c.(1345-1347)CAA>CGA	p.Q449R	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Q449R	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	449	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGTCTCATTCAACATCAGCAG	0.448		NaN											0	0	0	0.000602	0	4	133				
ZNF776	284309	broad.mit.edu	37	19	58265857	58265857	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58265857C>T	uc002qpx.2	+	3	1582	c.1359C>T	c.(1357-1359)ATC>ATT	p.I453I	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I453I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	453	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCAGCAGATCCACTCTGGAG	0.453		NaN											0	0	0	0.000602	0	4	121				
ROCK2	9475	broad.mit.edu	37	2	11333916	11333916	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:11333916T>C	uc002rbd.1	-	30	4125	c.3676A>G	c.(3676-3678)AGG>GGG	p.R1226G		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1226	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGGAATATCCTTGGAATTTCT	0.299		NaN											0	0	0	0.00333	0	15	30				
ITSN2	50618	broad.mit.edu	37	2	24535214	24535214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:24535214C>G	uc002rfe.2	-	5	477	c.219G>C	c.(217-219)AAG>AAC	p.K73N	ITSN2_uc002rff.2_Missense_Mutation_p.K73N|ITSN2_uc002rfg.2_Missense_Mutation_p.K73N|ITSN2_uc010eyd.2_Missense_Mutation_p.K73N	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	73	EH 1.|Potential.|EF-hand 1.				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)					GCTGATCCATCTTCCCATCCT	0.453		NaN											0	0	0	0.00361	0	35	137				
EPT1	85465	broad.mit.edu	37	2	26587758	26587758	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:26587758T>A	uc010ykz.1	+	3	332	c.185T>A	c.(184-186)GTA>GAA	p.V62E	EPT1_uc010eyl.1_RNA	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	62	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0						CTGCTGGTCGTATTCAATTTT	0.303		NaN											0	0	0	0.00623	0	26	17				
CAD	790	broad.mit.edu	37	2	27448663	27448663	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27448663A>G	uc002rji.2	+	12	1873	c.1711A>G	c.(1711-1713)AGG>GGG	p.R571G	CAD_uc010eyw.2_Missense_Mutation_p.R571G	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	571	CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCCTCTAACAGGGAGGAGCT	0.597		NaN											0	0	0	0.00361	0	42	18				
SLC30A3	7781	broad.mit.edu	37	2	27480167	27480167	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27480167C>T	uc002rjk.2	-	5	818	c.632G>A	c.(631-633)GGA>GAA	p.G211E	SLC30A3_uc002rjj.2_Missense_Mutation_p.E57K|SLC30A3_uc010ylh.1_Missense_Mutation_p.G206E	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	211	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACTCTGCTCCCCTAGACCC	0.677		NaN											0	0	0	0.001168	0	4	11				
ZNF512	84450	broad.mit.edu	37	2	27821096	27821096	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27821096G>A	uc002rla.2	+	3	339	c.252G>A	c.(250-252)AAG>AAA	p.K84K	ZNF512_uc010ylv.1_Silent_p.K5K|ZNF512_uc010ylw.1_Silent_p.K83K|ZNF512_uc002rlb.2_Silent_p.K5K|ZNF512_uc010ylx.1_Silent_p.K5K|ZNF512_uc002rlc.2_Silent_p.K5K|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.K5K	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAAGAATCAAGCCAGCTGCTA	0.408		NaN											0	0	0	0.002299	0	16	68				
LTBP1	4052	broad.mit.edu	37	2	33589420	33589420	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:33589420A>G	uc002ros.2	+	30	4540	c.4540A>G	c.(4540-4542)AAC>GAC	p.N1514D	LTBP1_uc002rot.2_Missense_Mutation_p.N1188D|LTBP1_uc002rou.2_Missense_Mutation_p.N1187D|LTBP1_uc002rov.2_Missense_Mutation_p.N1134D|LTBP1_uc010ymz.1_Missense_Mutation_p.N1145D|LTBP1_uc010yna.1_Missense_Mutation_p.N1092D|LTBP1_uc010ynb.1_Missense_Mutation_p.N411D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1513					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)				GGCTGAGTCAAACGGTATGTT	0.398		NaN											0	0	0	0.00499	0	14	7				
EML4	27436	broad.mit.edu	37	2	42552634	42552634	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:42552634G>C	uc002rsi.2	+	20	2444	c.2182G>C	c.(2182-2184)GAC>CAC	p.D728H	EML4_uc010fap.2_Missense_Mutation_p.D670H|EML4_uc002rsj.2_Missense_Mutation_p.D417H|EML4_uc010faq.2_Missense_Mutation_p.D73H|EML4_uc010ynv.1_5'UTR	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	728	WD 8.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						CACACACCTTGACTGGTCCCC	0.313		NaN	T	ALK	NSCLC								0	0	0	0.000602	0	3	10				
C2orf63	130162	broad.mit.edu	37	2	55444968	55444968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:55444968C>G	uc002ryi.2	-	4	690	c.344G>C	c.(343-345)AGA>ACA	p.R115T	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_5'UTR	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	115							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			TTGGATTGTTCTTTTCCTGTA	0.358		NaN											0	0	0	0.001168	0	4	15				
USP34	9736	broad.mit.edu	37	2	61416073	61416073	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:61416073C>T	uc002sbe.2	-	79	10027	c.10005G>A	c.(10003-10005)GAG>GAA	p.E3335E	USP34_uc002sbd.2_Silent_p.E137E	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3335					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGGCTTCTTGCTCTTGGAGTG	0.413		NaN											0	0	0	0.012213	0	28	21				
ATP6V1B1	525	broad.mit.edu	37	2	71191936	71191936	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:71191936C>A	uc002shj.2	+	13	1406	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.S423Y|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.S398Y	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	440					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GCGCTCACCTCTGAGGACCTG	0.597		NaN									OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.16721e-17	0.010818	9.15717e-17	25	24				
LRRTM4	80059	broad.mit.edu	37	2	77745525	77745525	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77745525A>T	uc002snr.2	-	3	1885	c.1470T>A	c.(1468-1470)CCT>CCA	p.P490P	LRRTM4_uc002snq.2_Silent_p.P490P|LRRTM4_uc002sns.2_Silent_p.P490P|LRRTM4_uc002snt.2_Silent_p.P491P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	490	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		CAGAGTTTGTAGGCTTGTAGT	0.468		NaN											0	0	0	0.003755	0	27	15				
LRRTM4	80059	broad.mit.edu	37	2	77746266	77746266	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77746266G>A	uc002snr.2	-	3	1144	c.729C>T	c.(727-729)TCC>TCT	p.S243S	LRRTM4_uc002snq.2_Silent_p.S243S|LRRTM4_uc002sns.2_Silent_p.S243S|LRRTM4_uc002snt.2_Silent_p.S244S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	243	LRR 8.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		CTTGGCTAATGGAGCGAATCC	0.448		NaN											0	0	0	0.004007	0	14	25				
SMYD1	150572	broad.mit.edu	37	2	88405960	88405960	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:88405960C>A	uc002ssr.2	+	8	1100	c.1098C>A	c.(1096-1098)GCC>GCA	p.A366A	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.A62A	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACCTCCAGGCCTTTGAGGAGG	0.522		NaN											1	0	8.16721e-17	0.010818	9.15717e-17	26	39				
CNGA3	1261	broad.mit.edu	37	2	98996644	98996644	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:98996644G>A	uc002syt.2	+	4	639	c.222G>A	c.(220-222)TCG>TCA	p.S74S	CNGA3_uc002syu.2_Silent_p.S74S|CNGA3_uc010fij.2_Silent_p.S78S	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	74					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CCAGGCTGTCGCGCCTCATCT	0.527		NaN											0	0	0	0.010504	0	14	20				
BUB1	699	broad.mit.edu	37	2	111423892	111423892	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:111423892T>G	uc002tgc.2	-	9	1017	c.905A>C	c.(904-906)CAG>CCG	p.Q302P	BUB1_uc010yxh.1_Missense_Mutation_p.Q282P|BUB1_uc010fkb.2_Missense_Mutation_p.Q302P|BUB1_uc002tgd.2_Missense_Mutation_p.Q302P	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	302					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTCCACCACCTGATGCAACTT	0.443		NaN											0	0	0	0.008871	0	18	19				
SLC20A1	6574	broad.mit.edu	37	2	113420544	113420544	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:113420544C>G	uc002tib.2	+	11	2428	c.1982C>G	c.(1981-1983)TCT>TGT	p.S661C		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	661	Helical; (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						GTCCCCATTTCTGGAGTTATC	0.458		NaN											0	0	0	0.00361	0	73	59				
PTPN4	5775	broad.mit.edu	37	2	120639722	120639722	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:120639722C>G	uc002tmf.1	+	7	1234	c.463C>G	c.(463-465)CAG>GAG	p.Q155E	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	155	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	ATTTGCTGTTCAGTGTAAGTA	0.358		NaN											0	0	0	0.00361	0	58	44				
GLI2	2736	broad.mit.edu	37	2	121747231	121747231	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:121747231T>C	uc010flp.2	+	13	3771	c.3741T>C	c.(3739-3741)TAT>TAC	p.Y1247Y	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.Y919Y|GLI2_uc002tmu.3_Silent_p.Y902Y	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1247					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ATGCCTGCTATGGCCAAGTCC	0.622		NaN											0	0	0	0.010771	0	37	24				
POTEF	728378	broad.mit.edu	37	2	130872849	130872849	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:130872849G>A	uc010fmh.2	-	4	974	c.574C>T	c.(574-576)CTG>TTG	p.L192L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	192	ANK 1.					cell cortex	ATP binding			skin(3)|ovary(2)	5						CTGTCCAGCAGGAGTTTTACT	0.428		NaN											0	0	0	0.00361	0	26	81				
RIF1	55183	broad.mit.edu	37	2	152330584	152330584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:152330584C>G	uc002txm.2	+	35	7332	c.7202C>G	c.(7201-7203)TCA>TGA	p.S2401*	RIF1_uc002txl.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txn.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txo.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2401	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGACTTGTCTCAGGTATATTT	0.299		NaN											0	0	0	0.007835	0	32	26				
BAZ2B	29994	broad.mit.edu	37	2	160252303	160252303	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:160252303T>C	uc002uao.2	-	20	3404	c.3052A>G	c.(3052-3054)ATG>GTG	p.M1018V	BAZ2B_uc002uap.2_Missense_Mutation_p.M982V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1018	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CGAGCTTCCATAGCTTTCATA	0.338		NaN											0	0	0	0.00308	0	5	12				
FAP	2191	broad.mit.edu	37	2	163051256	163051256	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163051256G>A	uc002ucd.2	-	17	1613	c.1405C>T	c.(1405-1407)CCA>TCA	p.P469S	FAP_uc010fpc.2_Missense_Mutation_p.P18S|FAP_uc010zct.1_Missense_Mutation_p.P444S|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	469	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						GGGATGCCTGGGCCTGTGGGC	0.438		NaN											0	0	0	0.007413	0	14	49				
GCA	25801	broad.mit.edu	37	2	163213345	163213345	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163213345C>T	uc002ucg.2	+	5	560	c.384C>T	c.(382-384)TTC>TTT	p.F128F	GCA_uc010zcu.1_Silent_p.F109F	NM_012198	NP_036330	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	128	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity				0						AGGAAAACTTCATGACTGTTG	0.368		NaN											0	0	0	0.00361	0	46	22				
SCN2A	6326	broad.mit.edu	37	2	166245291	166245291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166245291G>C	uc002udc.2	+	27	5265	c.4975G>C	c.(4975-4977)GCG>CCG	p.A1659P	SCN2A_uc002udd.2_Missense_Mutation_p.A1659P|SCN2A_uc002ude.2_Missense_Mutation_p.A1659P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1659	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GTCCCTTCCTGCGTTGTTTAA	0.498		NaN											0	0	0	0.001855	0	13	94				
SCN2A	6326	broad.mit.edu	37	2	166246148	166246148	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166246148C>A	uc002udc.2	+	27	6122	c.5832C>A	c.(5830-5832)CCC>CCA	p.P1944P	SCN2A_uc002udd.2_Silent_p.P1944P|SCN2A_uc002ude.2_Silent_p.P1944P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1944					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATGGAACACCCATCAAAGAAG	0.403		NaN											1	0	5.2432e-18	0.00361	5.9186e-18	35	13				
SCN1A	6323	broad.mit.edu	37	2	166859238	166859238	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166859238G>T	uc010zcz.1	-	21	4013	c.3995C>A	c.(3994-3996)GCA>GAA	p.A1332E	SCN1A_uc002udo.3_Missense_Mutation_p.A1212E|SCN1A_uc010fpk.2_Missense_Mutation_p.A1184E	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1343	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATGGAATTGCTCCTAAAAG	0.348		NaN											1	0	5.73237e-09	0.00623	6.05993e-09	28	14				
STK39	27347	broad.mit.edu	37	2	169020276	169020276	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:169020276T>C	uc002uea.2	-	4	705	c.545A>G	c.(544-546)TAT>TGT	p.Y182C		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	182	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						TCTGTGTAGATAGTCTAAGCC	0.378		NaN											0	0	0	0.009096	0	4	35				
LRP2	4036	broad.mit.edu	37	2	170060728	170060728	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:170060728T>A	uc002ues.2	-	42	7982	c.7769A>T	c.(7768-7770)AAT>ATT	p.N2590I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2590	LDL-receptor class B 28.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACGGCTGCATTGACAATGAC	0.418		NaN											0	0	0	0.00361	0	167	101				
PDE11A	50940	broad.mit.edu	37	2	178684974	178684974	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:178684974T>C	uc002ulq.2	-	7	1867	c.1549A>G	c.(1549-1551)ATT>GTT	p.I517V	PDE11A_uc002ulp.2_Missense_Mutation_p.I73V|PDE11A_uc002ulr.2_Missense_Mutation_p.I267V|PDE11A_uc002uls.1_Missense_Mutation_p.I159V|PDE11A_uc002ult.1_Missense_Mutation_p.I267V|PDE11A_uc002ulu.1_Missense_Mutation_p.I159V	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	517	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTATTCCAAATAGGGACACAA	0.294		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.010771	0	29	16				
TTN	7273	broad.mit.edu	37	2	179396043	179396043	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179396043G>A	uc010zfg.1	-	307	97819	c.97595C>T	c.(97594-97596)GCA>GTA	p.A32532V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A26227V|TTN_uc010zfi.1_Missense_Mutation_p.A26160V|TTN_uc010zfj.1_Missense_Mutation_p.A26035V|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33459							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)			TTCTGCAGATGCAGAGTGTTC	0.408		NaN											0	0	0	0.004878	0	32	10				
TTN	7273	broad.mit.edu	37	2	179428076	179428076	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179428076T>A	uc010zfg.1	-	275	75303	c.75079A>T	c.(75079-75081)ATT>TTT	p.I25027F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I18722F|TTN_uc010zfi.1_Missense_Mutation_p.I18655F|TTN_uc010zfj.1_Missense_Mutation_p.I18530F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25954							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)			CCATCATAAATTGGCTTACTC	0.507		NaN											0	0	0	0.001368	0	10	22				
TTN	7273	broad.mit.edu	37	2	179431369	179431369	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179431369A>G	uc010zfg.1	-	275	72010	c.71786T>C	c.(71785-71787)GTA>GCA	p.V23929A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17624A|TTN_uc010zfi.1_Missense_Mutation_p.V17557A|TTN_uc010zfj.1_Missense_Mutation_p.V17432A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24856							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)			AGTGGTGTCTACAATGTGTGC	0.443		NaN											0	0	0	0.00361	0	57	165				
TTN	7273	broad.mit.edu	37	2	179440159	179440159	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179440159T>C	uc010zfg.1	-	275	63220	c.62996A>G	c.(62995-62997)TAT>TGT	p.Y20999C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14694C|TTN_uc010zfi.1_Missense_Mutation_p.Y14627C|TTN_uc010zfj.1_Missense_Mutation_p.Y14502C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21926							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)			TTCAATCACATAGCCAGTGAT	0.493		NaN											0	0	0	0.002299	0	20	40				
TTN	7273	broad.mit.edu	37	2	179621183	179621183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179621183C>T	uc010zfh.1	-	44	10731	c.10507G>A	c.(10507-10509)GGT>AGT	p.G3503S	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3517							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)			GCCGTGTCACCGCACTTTACA	0.453		NaN											0	0	0	0.00333	0	22	8				
HECW2	57520	broad.mit.edu	37	2	197183282	197183282	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:197183282T>A	uc002utm.1	-	9	2515	c.2332A>T	c.(2332-2334)ACT>TCT	p.T778S	HECW2_uc002utl.1_Missense_Mutation_p.T422S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	778	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CTACCTCCAGTAGCGCCCTCC	0.592		NaN											0	0	0	0.007291	0	24	19				
HSPE1	3336	broad.mit.edu	37	2	198367982	198367982	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:198367982G>A	uc002uul.2	+	4	748	c.308G>A	c.(307-309)TGA>TAA	p.*103*	HSPD1_uc002uuk.2_5'Flank	NM_002157	NP_002148	P61604	CH10_HUMAN	heat shock 10kDa protein 1	103					activation of caspase activity|protein folding|response to unfolded protein	mitochondrial matrix	ATP binding|chaperone binding|unfolded protein binding				0			Epithelial(96;0.225)			TACGTAGACTGAAATAAGTCA	0.328		NaN											0	0	0	0.00361	0	38	9				
ADAM23	8745	broad.mit.edu	37	2	207459510	207459510	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:207459510G>C	uc002vbq.2	+	23	2351	c.2128G>C	c.(2128-2130)GAT>CAT	p.D710H	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	710	Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTATGTAGAAGATGGAACGCC	0.428		NaN											0	0	0	0.00361	0	42	25				
USP37	57695	broad.mit.edu	37	2	219324581	219324581	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:219324581C>G	uc002vie.2	-	23	3028	c.2575G>C	c.(2575-2577)GGA>CGA	p.G859R	USP37_uc010fvs.1_Missense_Mutation_p.G859R|USP37_uc010zkf.1_Missense_Mutation_p.G859R|USP37_uc002vif.2_Missense_Mutation_p.G859R|USP37_uc002vig.2_Missense_Mutation_p.G765R	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	859					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCCTCATTTCCAGAGTCCTCA	0.358		NaN											0	0	0	0.00361	0	60	3				
PAX3	5077	broad.mit.edu	37	2	223086063	223086063	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:223086063C>T	uc010fwo.2	-	6	1202	c.836G>A	c.(835-837)GGG>GAG	p.G279E	PAX3_uc002vmt.1_Missense_Mutation_p.G279E|PAX3_uc002vmy.1_Missense_Mutation_p.G278E|PAX3_uc002vmv.1_Missense_Mutation_p.G279E|PAX3_uc002vmw.1_Missense_Mutation_p.G279E|PAX3_uc002vmx.1_Missense_Mutation_p.G279E	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	279					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATTGGCCCCAGCTTGCTT	0.473		NaN	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						0	0	0	0.00361	0	74	5				
WDR69	164781	broad.mit.edu	37	2	228758558	228758558	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:228758558C>T	uc002vpn.1	+	5	444	c.365C>T	c.(364-366)GCG>GTG	p.A122V	WDR69_uc010zlw.1_Missense_Mutation_p.A107V|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	122	WD 1.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGGACACTGCGTCTGGAGAG	0.433		NaN											0	0	0	0.00308	0	7	2				
PSMD1	5707	broad.mit.edu	37	2	231927368	231927368	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:231927368G>A	uc002vrn.1	+	4	414	c.283G>A	c.(283-285)GAA>AAA	p.E95K	PSMD1_uc002vrm.1_Missense_Mutation_p.E95K|PSMD1_uc010fxu.1_Intron	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGATAACTCTGAATATGTGGA	0.398		NaN											0	0	0	0.003954	0	20	3				
HSPA12B	116835	broad.mit.edu	37	20	3730479	3730479	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:3730479C>T	uc002wjd.2	+	10	1123	c.1020C>T	c.(1018-1020)CTC>CTT	p.L340L	HSPA12B_uc010zqi.1_Silent_p.L339L|HSPA12B_uc002wje.2_Silent_p.L253L|HSPA12B_uc010zqj.1_Silent_p.L174L	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	340							ATP binding				0						ATGGCACCCTCAAGGAGCTCT	0.746		NaN											0	0	0	0.009096	0	4	13				
SPTLC3	55304	broad.mit.edu	37	20	13052966	13052966	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:13052966C>G	uc002wod.1	+	3	655	c.366C>G	c.(364-366)ATC>ATG	p.I122M		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	122					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	ACATGCGAATCAGAGACAACT	0.433		NaN											0	0	0	0.00361	0	34	83				
ID1	3397	broad.mit.edu	37	20	30193268	30193268	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:30193268C>G	uc002wwg.1	+	1	177	c.78C>G	c.(76-78)AGC>AGG	p.S26R	ID1_uc002wwh.1_Missense_Mutation_p.S26R|hsa-mir-3193|MI0014238_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	inhibitor of DNA binding 1 isoform a	26					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGACAGCGAGCGGTGCGGGCG	0.607		NaN											0	0	0	0.001168	0	6	15				
CEP250	11190	broad.mit.edu	37	20	34057721	34057721	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:34057721C>G	uc002xcm.2	+	11	1529	c.858C>G	c.(856-858)ACC>ACG	p.T286T	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Silent_p.T93T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	286	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTAGGGTGACCGAGCTCTCTG	0.418		NaN											0	0	0	0.001168	0	5	27				
FITM2	128486	broad.mit.edu	37	20	42935833	42935833	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:42935833G>C	uc002xlr.1	-	2	322	c.221C>G	c.(220-222)CCT>CGT	p.P74R		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	74	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						GGCAATGAAAGGCAGAAGGAG	0.577		NaN											0	0	0	0.005443	0	24	8				
TTPAL	79183	broad.mit.edu	37	20	43115337	43115337	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:43115337A>T	uc002xmc.1	+	5	865	c.741A>T	c.(739-741)ATA>ATT	p.I247I	TTPAL_uc002xmd.1_Silent_p.I247I|TTPAL_uc010ggr.1_Silent_p.I60I	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	247	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						AGGAGAAAATAGCAAACAGAG	0.348		NaN											0	0	0	0.000602	0	5	8				
ZSWIM1	90204	broad.mit.edu	37	20	44511647	44511647	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44511647G>T	uc010ghi.2	+	2	529	c.416G>T	c.(415-417)TGG>TTG	p.W139L	ZSWIM1_uc010zxh.1_Missense_Mutation_p.W12L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	139							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				AATCCAGCATGGGAGAGAGTC	0.527		NaN											1	0	7.92952e-12	0.003954	8.58709e-12	23	69				
CD40	958	broad.mit.edu	37	20	44751393	44751393	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44751393T>C	uc002xrg.1	+	4	478	c.401T>C	c.(400-402)ATT>ACT	p.I134T	CD40_uc002xrf.1_Missense_Mutation_p.I134T|CD40_uc002xrh.1_Missense_Mutation_p.I134T|CD40_uc002xri.1_Missense_Mutation_p.I134T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	134	Extracellular (Potential).|TNFR-Cys 3.				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GTCAAGCAGATTGGTAAGTGG	0.597		NaN							Immune_Deficiency_with_Hyper-IgM				0	0	0	0.00361	0	57	22				
ZNF334	55713	broad.mit.edu	37	20	45130608	45130608	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:45130608C>A	uc002xsc.2	-	5	1554	c.1370G>T	c.(1369-1371)GGA>GTA	p.G457V	ZNF334_uc002xsa.2_Missense_Mutation_p.G480V|ZNF334_uc002xsb.2_Missense_Mutation_p.G419V|ZNF334_uc002xsd.2_Missense_Mutation_p.G419V|ZNF334_uc010ghl.2_Missense_Mutation_p.G456V	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				AGACTTCTTTCCTCTATGAGT	0.388		NaN											1	0	1.3612e-06	0.003163	1.41429e-06	13	63				
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:51873094G>A	uc002xwo.2	+	2	4053	c.3097G>A	c.(3097-3099)GAA>AAA	p.E1033K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493		NaN											0	0	0	0.00361	0	85	41				
CYP24A1	1591	broad.mit.edu	37	20	52788149	52788149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:52788149C>A	uc002xwv.2	-	3	908	c.510G>T	c.(508-510)GGG>GGT	p.G170G	CYP24A1_uc002xwu.1_Silent_p.G28G|CYP24A1_uc002xww.2_Silent_p.G170G	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	170					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATCACTTCCCCTGGTTTCA	0.507		NaN											1	0	2.80507e-11	0.012213	3.03276e-11	29	153				
NTSR1	4923	broad.mit.edu	37	20	61341220	61341220	+	Missense_Mutation	SNP	G	G	A	rs143560266	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:61341220G>A	uc002ydf.2	+	1	1032	c.661G>A	c.(661-663)GGC>AGC	p.G221S		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	221	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGCCGGCGGCCTGGTGTG	0.672		NaN											0	0	0	0.010771	0	30	15				
TPTE	7179	broad.mit.edu	37	21	10951423	10951423	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:10951423A>T	uc002yip.1	-	10	657	c.289T>A	c.(289-291)TTT>ATT	p.F97I	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.F79I|TPTE_uc002yir.1_Missense_Mutation_p.F59I|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	97	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAACTCCAAATAGTCTAaaa	0.333		NaN											0	0	0	0.009096	0	3	42				
KRTAP22-1	337979	broad.mit.edu	37	21	31973522	31973522	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:31973522G>A	uc011add.1	+	1	83	c.83G>A	c.(82-84)GGC>GAC	p.G28D	KRTAP6-2_uc011adc.1_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	28						intermediate filament					0						GGTCTTAGCGGCTATGGCTAT	0.488		NaN											0	0	0	0.00361	0	111	9				
KRTAP8-1	337879	broad.mit.edu	37	21	32185477	32185477	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32185477T>G	uc002you.2	-	1	94	c.62A>C	c.(61-63)TAC>TCC	p.Y21S		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	21	12 X 2 AA repeats of G-[YCGS].					intermediate filament					0						TCCCAGCGGGTAGCCATAGCT	0.602		NaN											0	0	0	0.00874	0	36	2				
TIAM1	7074	broad.mit.edu	37	21	32617923	32617924	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32617923_32617924TG>AA	uc002yow.1	-	7	1936_1937	c.1464_1465CA>TT	c.(1462-1467)AACAGC>AATTGC	p.S489C	TIAM1_uc011adk.1_Missense_Mutation_p.S489C|TIAM1_uc011adl.1_Missense_Mutation_p.S489C|TIAM1_uc002yox.1_Missense_Mutation_p.S97C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	489	PH 1.				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						TTGGGGATGCTGTTGTGGTCTA	0.545		NaN											0	0	0	0.004672	0	18	3				
DSCAM	1826	broad.mit.edu	37	21	41385013	41385013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41385013C>T	uc002yyq.1	-	33	6439	c.5987G>A	c.(5986-5988)CGG>CAG	p.R1996Q	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1996	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAATGGCCCCGGGAGTCGAG	0.517		NaN											0	0	0	0.003271	0	26	2				
DSCAM	1826	broad.mit.edu	37	21	41416166	41416166	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41416166G>T	uc002yyq.1	-	31	5674	c.5222C>A	c.(5221-5223)ACA>AAA	p.T1741K	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1741	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTTCTCGCTGTGGGCCCAGC	0.602		NaN											1	0	1.01871e-10	0.008871	1.09784e-10	16	1				
KRTAP10-4	386672	broad.mit.edu	37	21	45994247	45994247	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:45994247C>T	uc002zfk.1	+	1	642	c.612C>T	c.(610-612)TGC>TGT	p.C204C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	204	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TCAGCTCCTGCACGCCCTCGT	0.662		NaN											0	0	0	0.00361	0	51	6				
CCT8L2	150160	broad.mit.edu	37	22	17073279	17073279	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:17073279G>A	uc002zlp.1	-	1	422	c.162C>T	c.(160-162)CAC>CAT	p.H54H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	54					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTGCCGGCCGTGGGGGCCAT	0.637		NaN											0	0	0	0.000602	0	3	94				
C22orf29	79680	broad.mit.edu	37	22	19838758	19838758	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:19838758C>T	uc002zqg.2	-	2	1626	c.1027G>A	c.(1027-1029)GGT>AGT	p.G343S	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.G343S|C22orf29_uc002zqi.2_Missense_Mutation_p.G343S|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	343											0	Colorectal(54;0.0993)					TGTGGGGTACCTAAGGACACC	0.602		NaN											0	0	0	0.009096	0	4	2				
MED15	51586	broad.mit.edu	37	22	20937496	20937496	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:20937496C>A	uc002zsp.2	+	12	1714	c.1634C>A	c.(1633-1635)CCC>CAC	p.P545H	MED15_uc002zsq.2_Missense_Mutation_p.P505H|MED15_uc010gso.2_Missense_Mutation_p.P488H|MED15_uc002zsr.2_Missense_Mutation_p.P479H|MED15_uc011ahs.1_Missense_Mutation_p.P479H|MED15_uc002zss.2_Missense_Mutation_p.P424H|MED15_uc011ahu.1_Missense_Mutation_p.P255H|MED15_uc002zst.2_Missense_Mutation_p.P161H|MED15_uc002zsu.2_Missense_Mutation_p.P150H	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	545					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TACATCGAGCCCCTGCGCCGC	0.607		NaN											1	0	0.000442599	0.006214	0.000451411	10	9				
LZTR1	8216	broad.mit.edu	37	22	21345960	21345960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:21345960C>G	uc002zto.2	+	9	938	c.835C>G	c.(835-837)CCA>GCA	p.P279A	LZTR1_uc002ztn.2_Missense_Mutation_p.P238A|LZTR1_uc011ahy.1_Missense_Mutation_p.P260A|LZTR1_uc010gsr.1_Missense_Mutation_p.P150A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	279	Kelch 4.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCTCCCCACCACCCCCGCA	0.647		NaN											0	0	0	0.006214	0	7	19				
PPM1F	9647	broad.mit.edu	37	22	22277628	22277628	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:22277628C>A	uc002zvp.1	-	8	1316	c.1202G>T	c.(1201-1203)GGC>GTC	p.G401V	PPM1F_uc011aik.1_Missense_Mutation_p.G297V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	401					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GTCGTGGGAGCCCCGCTCCCG	0.687		NaN											1	0	1.7489e-18	0.011902	1.98428e-18	35	35				
CRYBA4	1413	broad.mit.edu	37	22	27021570	27021570	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:27021570G>A	uc003acz.3	+	4	319	c.284G>A	c.(283-285)CGG>CAG	p.R95Q		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	95	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						ACCTCCTTCCGGCCTGCGGCC	0.537		NaN											0	0	0	0.00361	0	56	64				
AP1B1	162	broad.mit.edu	37	22	29763219	29763219	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:29763219T>G	uc003afj.2	-	2	198	c.14A>C	c.(13-15)AAA>ACA	p.K5T	AP1B1_uc003afi.2_Missense_Mutation_p.K5T|AP1B1_uc003afk.2_Missense_Mutation_p.K5T|AP1B1_uc003afl.2_Missense_Mutation_p.K5T	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	5					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GGTGAAATATTTTGAGTCAGT	0.443		NaN											0	0	0	0.004656	0	13	43				
PLA2G3	50487	broad.mit.edu	37	22	31532738	31532738	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:31532738A>G	uc003aka.2	-	6	1376	c.1247T>C	c.(1246-1248)ATG>ACG	p.M416T		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	416					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CTCCCAAAGCATGTTGGTAAC	0.627		NaN											0	0	0	0.001168	0	5	157				
TRIOBP	11078	broad.mit.edu	37	22	38119892	38119892	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38119892C>G	uc003atr.2	+	7	1600	c.1329C>G	c.(1327-1329)CCC>CCG	p.P443P	TRIOBP_uc003atu.2_Silent_p.P271P|TRIOBP_uc003atq.1_Silent_p.P443P|TRIOBP_uc003ats.1_Silent_p.P271P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	443					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582		NaN											0	0	0	0.00245	0	5	111				
TRIOBP	11078	broad.mit.edu	37	22	38120039	38120039	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38120039C>G	uc003atr.2	+	7	1747	c.1476C>G	c.(1474-1476)CCC>CCG	p.P492P	TRIOBP_uc003atu.2_Silent_p.P320P|TRIOBP_uc003atq.1_Silent_p.P492P|TRIOBP_uc003ats.1_Silent_p.P320P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	492					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582		NaN											0	0	0	0.00361	0	49	58				
DNAJB7	150353	broad.mit.edu	37	22	41257777	41257777	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:41257777G>A	uc003azj.2	-	1	354	c.222C>T	c.(220-222)AAC>AAT	p.N74N	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	74					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						TTCCACCTCCGTTTAATCCTT	0.358		NaN											0	0	0	0.00361	0	66	1				
EFCAB6	64800	broad.mit.edu	37	22	44031097	44031097	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:44031097C>T	uc003bdy.1	-	18	2199	c.1984_splice	c.e18-1	p.V662_splice	EFCAB6_uc003bdz.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzi.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCCAGTACCTGACGAGGGA	0.572		NaN											0	0	0	0.00361	0	37	40				
FBLN1	2192	broad.mit.edu	37	22	45972913	45972913	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:45972913A>G	uc003bgj.1	+	16	2044	c.1897A>G	c.(1897-1899)ATC>GTC	p.I633V		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	633					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTAACATCATCTTCGACAT	0.552		NaN											0	0	0	0.013114	0	36	101				
SNRK	54861	broad.mit.edu	37	3	43384866	43384866	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:43384866C>G	uc003cms.3	+	6	1307	c.975C>G	c.(973-975)ATC>ATG	p.I325M	SNRK_uc003cmt.3_Missense_Mutation_p.I325M|SNRK_uc010hik.2_Missense_Mutation_p.I325M|SNRK_uc011azr.1_Missense_Mutation_p.I119M	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	325	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATAACCATATCACAGCCACAT	0.448		NaN											0	0	0	0.009096	0	3	87				
TMIE	259236	broad.mit.edu	37	3	46751086	46751086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:46751086A>C	uc010hjk.1	+	4	534	c.379A>C	c.(379-381)AAG>CAG	p.K127Q	TMIE_uc010hjj.1_3'UTR	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	transmembrane inner ear protein precursor	127	Cytoplasmic (Potential).|Lys-rich.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		gaagaagaagaagaagaagaa	0.458		NaN											0	0	0	0.008871	0	19	28				
CELSR3	1951	broad.mit.edu	37	3	48699092	48699092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:48699092G>A	uc003cul.2	-	1	1257	c.976C>T	c.(976-978)CCG>TCG	p.P326S	CELSR3_uc003cuf.1_Missense_Mutation_p.P396S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	326	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)		TTGTACTGCGGAAACTGCGGG	0.701		NaN											0	0	0	0.009535	0	25	80				
BSN	8927	broad.mit.edu	37	3	49689154	49689154	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:49689154C>T	uc003cxe.3	+	5	2279	c.2165C>T	c.(2164-2166)TCC>TTC	p.S722F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	722					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGCCCCTCCGAGATCCAC	0.647		NaN											0	0	0	0.00361	0	62	30				
GRM2	2912	broad.mit.edu	37	3	51746972	51746972	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:51746972G>A	uc010hlv.2	+	3	1173	c.934G>A	c.(934-936)GAG>AAG	p.E312K	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	312	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGGGGCTGCTGAGGGTGCTAT	0.627		NaN											0	0	0	0.00361	0	39	23				
UBA3	9039	broad.mit.edu	37	3	69113226	69113226	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:69113226G>A	uc003dno.2	-	7	485	c.465C>T	c.(463-465)TTC>TTT	p.F155F	UBA3_uc003dnq.2_Silent_p.F141F|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	155	ATP.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TACGTCGATAGAAAGTGTCGT	0.289		NaN											0	0	0	0.006214	0	6	7				
ROBO2	6092	broad.mit.edu	37	3	77607281	77607281	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77607281T>C	uc003dpy.3	+	9	2061	c.1418T>C	c.(1417-1419)CTG>CCG	p.L473P	ROBO2_uc003dpz.2_Missense_Mutation_p.L477P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L477P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	473	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAAGGCACACTGCAGATTAAG	0.378		NaN											0	0	0	0.00361	0	55	24				
ROBO2	6092	broad.mit.edu	37	3	77626765	77626765	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77626765G>T	uc003dpy.3	+	15	2971	c.2328G>T	c.(2326-2328)AAG>AAT	p.K776N	ROBO2_uc003dpz.2_Missense_Mutation_p.K780N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.K780N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	776	Fibronectin type-III 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAATACAAGGTAGGACCCG	0.443		NaN											1	0	6.00712e-18	0.012213	6.76945e-18	25	14				
EPHA6	285220	broad.mit.edu	37	3	97311498	97311498	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:97311498T>A	uc010how.1	+	12	2472	c.2429T>A	c.(2428-2430)TTC>TAC	p.F810Y	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.F176Y|EPHA6_uc003drs.3_Missense_Mutation_p.F202Y|EPHA6_uc003drr.3_Missense_Mutation_p.F202Y|EPHA6_uc003drt.2_Missense_Mutation_p.F202Y|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	715	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						TGCCCCAGCTTCCTGAGGGCA	0.493		NaN											0	0	0	0.00245	0	11	23				
CD200	4345	broad.mit.edu	37	3	112059796	112059796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:112059796G>A	uc003dyw.2	+	3	279	c.135G>A	c.(133-135)TGG>TGA	p.W45*	CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.2_Nonsense_Mutation_p.W20*|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	20					regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GCCTGGTTTGGGTCATGGCAG	0.483		NaN											0	0	0	0.005443	0	16	57				
CCDC52	152185	broad.mit.edu	37	3	113188079	113188079	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113188079G>C	uc003eag.3	-	8	909	c.618C>G	c.(616-618)CTC>CTG	p.L206L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L102L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	206					cell division|mitosis	centriole|spindle	protein binding				0						TTAGTTGTTGGAGAAACCTAT	0.259		NaN											0	0	0	0.007413	0	16	6				
KIAA2018	205717	broad.mit.edu	37	3	113376934	113376934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113376934G>A	uc003eam.2	-	7	4006	c.3595C>T	c.(3595-3597)CAG>TAG	p.Q1199*	KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q1143*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1199					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						ATTGAACCCTGAGAATTAAAT	0.413		NaN											0	0	0	0.00333	0	21	17				
ZBTB20	26137	broad.mit.edu	37	3	114070467	114070467	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:114070467T>C	uc003ebi.2	-	4	638	c.458A>G	c.(457-459)AAG>AGG	p.K153R	ZBTB20_uc003ebj.2_Missense_Mutation_p.K80R|ZBTB20_uc010hqp.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebk.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebl.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebm.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebn.2_Missense_Mutation_p.K80R|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	153	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTCAATGAGCTTTTGCACTGA	0.582		NaN											0	0	0	0.012319	0	18	53				
KTELC1	56983	broad.mit.edu	37	3	119205718	119205718	+	Missense_Mutation	SNP	G	G	T	rs117423733	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:119205718G>T	uc003ecm.2	+	7	761	c.677G>T	c.(676-678)CGG>CTG	p.R226L	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.R67L	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	226						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		CTTCTGTCTCGGAAAAACCCA	0.413		NaN											1	0	1.88225e-35	0.00361	2.21481e-35	47	68				
GOLGB1	2804	broad.mit.edu	37	3	121410945	121410945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121410945C>T	uc003eei.3	-	14	7377	c.7251G>A	c.(7249-7251)CTG>CTA	p.L2417L	GOLGB1_uc010hrc.2_Silent_p.L2422L|GOLGB1_uc003eej.3_Silent_p.L2383L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2417	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CCTCCTGGGACAGCAGGTTTT	0.403		NaN											0	0	0	0.002836	0	29	29				
GOLGB1	2804	broad.mit.edu	37	3	121417379	121417379	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121417379A>C	uc003eei.3	-	13	2102	c.1976T>G	c.(1975-1977)GTA>GGA	p.V659G	GOLGB1_uc010hrc.2_Missense_Mutation_p.V664G|GOLGB1_uc003eej.3_Missense_Mutation_p.V625G|GOLGB1_uc011bjm.1_Missense_Mutation_p.V545G|GOLGB1_uc010hrd.1_Missense_Mutation_p.V623G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	659	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTCAATTCTACTCCAGCATC	0.393		NaN											0	0	0	0.001168	0	3	92				
CCDC37	348807	broad.mit.edu	37	3	126142417	126142417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:126142417C>T	uc003eiu.1	+	13	1315	c.1216C>T	c.(1216-1218)CAG>TAG	p.Q406*	CCDC37_uc010hsg.1_Nonsense_Mutation_p.Q407*	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	406	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GTCGCTGATCCAGAACAGCCA	0.597		NaN											0	0	0	0.009718	0	33	39				
ABTB1	80325	broad.mit.edu	37	3	127391916	127391916	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:127391916C>T	uc003ejt.2	+	1	136	c.48C>T	c.(46-48)GGC>GGT	p.G16G	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.A3V|ABTB1_uc003eju.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	16	ANK 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GGGATGTGGGCCGAGTGCGGT	0.746		NaN											0	0	0	0.010729	0	9	19				
ATP2C1	27032	broad.mit.edu	37	3	130686221	130686221	+	Missense_Mutation	SNP	G	G	T	rs115441492	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:130686221G>T	uc003enl.2	+	16	1488	c.1266G>T	c.(1264-1266)ATG>ATT	p.M422I	ATP2C1_uc011blg.1_Missense_Mutation_p.M456I|ATP2C1_uc011blh.1_Missense_Mutation_p.M417I|ATP2C1_uc011bli.1_Missense_Mutation_p.M456I|ATP2C1_uc003enk.2_Missense_Mutation_p.M406I|ATP2C1_uc003enm.2_Missense_Mutation_p.M422I|ATP2C1_uc003enn.2_Missense_Mutation_p.M406I|ATP2C1_uc003eno.2_Missense_Mutation_p.M422I|ATP2C1_uc003enp.2_Missense_Mutation_p.M422I|ATP2C1_uc003enq.2_Missense_Mutation_p.M422I|ATP2C1_uc003enr.2_Missense_Mutation_p.M422I|ATP2C1_uc003ens.2_Missense_Mutation_p.M422I|ATP2C1_uc003ent.2_Missense_Mutation_p.M422I|ATP2C1_uc003enu.2_Missense_Mutation_p.M100I	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	422	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATACTCTAATGGGGAAGCCAA	0.393		NaN							Hailey-Hailey_disease				1	0	1.06644e-07	0.007835	1.11675e-07	29	36				
EPHB1	2047	broad.mit.edu	37	3	134851706	134851706	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:134851706C>T	uc003eqt.2	+	5	1332	c.1112C>T	c.(1111-1113)TCC>TTC	p.S371F	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	371	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CGGAGCTGCTCCCGCTGTGAC	0.612		NaN											0	0	0	0.007835	0	29	27				
STAG1	10274	broad.mit.edu	37	3	136085925	136085925	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136085925C>G	uc003era.1	-	25	2838	c.2546_splice	c.e25-1	p.E849_splice	STAG1_uc003erb.1_Splice_Site_p.E849_splice|STAG1_uc003erc.1_Intron	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TCATCACCCTCTAAACACAGA	0.299		NaN											0	0	0	0.012213	0	22	119				
STAG1	10274	broad.mit.edu	37	3	136196190	136196190	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136196190T>A	uc003era.1	-	10	1259	c.967A>T	c.(967-969)AGT>TGT	p.S323C	STAG1_uc003erb.1_Missense_Mutation_p.S323C|STAG1_uc003erc.1_Missense_Mutation_p.S97C|STAG1_uc010hua.1_Missense_Mutation_p.S186C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	323	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AAGGCATCACTATACATTTTC	0.343		NaN											0	0	0	0.00361	0	57	29				
PRR23A	729627	broad.mit.edu	37	3	138724664	138724664	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:138724664G>A	uc011bms.1	-	1	447	c.447C>T	c.(445-447)ATC>ATT	p.I149I		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	proline rich 23A	149											0						CCTGGGCGGCGATCTCTGGGA	0.647		NaN											0	0	0	0.00499	0	11	24				
GRK7	131890	broad.mit.edu	37	3	141497288	141497288	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:141497288G>A	uc011bnd.1	+	1	246	c.162G>A	c.(160-162)CTG>CTA	p.L54L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	54					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AGCTGTCCCTGAACTTCCACA	0.677		NaN											0	0	0	0.00278	0	20	1				
PAQR9	344838	broad.mit.edu	37	3	142681984	142681984	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:142681984A>T	uc003evg.2	-	1	195	c.195T>A	c.(193-195)CGT>CGA	p.R65R	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	65	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TGCACGGCAGACGCCGGTAGC	0.667		NaN											0	0	0	0.00245	0	13	4				
WDR49	151790	broad.mit.edu	37	3	167196776	167196776	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:167196776C>G	uc003fev.1	-	15	2290	c.1984G>C	c.(1984-1986)GCT>CCT	p.A662P	WDR49_uc003feu.1_Missense_Mutation_p.A487P|WDR49_uc011bpd.1_Missense_Mutation_p.A627P|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	662										large_intestine(1)|ovary(1)|skin(1)	3						TCAAATACAGCTTTCAAAGCT	0.318		NaN											0	0	0	0.004672	0	2	9				
PLD1	5337	broad.mit.edu	37	3	171427487	171427487	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:171427487T>C	uc003fhs.2	-	10	1040	c.924A>G	c.(922-924)TTA>TTG	p.L308L	PLD1_uc003fht.2_Silent_p.L308L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	308	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTTGCATTTTAAAATAAGTG	0.373		NaN											0	0	0	0.00361	0	39	39				
NLGN1	22871	broad.mit.edu	37	3	173998359	173998359	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:173998359C>A	uc003fio.1	+	7	2161	c.1738C>A	c.(1738-1740)CAG>AAG	p.Q580K	NLGN1_uc003fip.1_Missense_Mutation_p.Q580K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	597	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGATATTCCCAGAAAGACCA	0.403		NaN											1	0	1.30916e-28	0.00361	1.519e-28	41	48				
GAK	2580	broad.mit.edu	37	4	860930	860930	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:860930C>A	uc003gbm.3	-	21	2885	c.2686G>T	c.(2686-2688)GTA>TTA	p.V896L	GAK_uc003gbn.3_Missense_Mutation_p.V817L|GAK_uc010ibk.1_Missense_Mutation_p.V790L|GAK_uc010ibi.2_Missense_Mutation_p.V77L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V760L	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	896					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TGCGGGGGTACAGCTGGCCCT	0.701		NaN											1	0	5.35267e-07	0.007413	5.57884e-07	16	6				
RGS12	6002	broad.mit.edu	37	4	3424264	3424264	+	Silent	SNP	G	G	A	rs139780010		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3424264G>A	uc003ggw.2	+	11	3904	c.3000G>A	c.(2998-3000)GCG>GCA	p.A1000A	RGS12_uc003ggv.2_Silent_p.A1000A|RGS12_uc003ggy.1_Silent_p.A398A|RGS12_uc003ggz.2_Silent_p.A352A|RGS12_uc010icu.1_Silent_p.A199A|RGS12_uc011bvs.1_Silent_p.A342A|RGS12_uc003gha.2_Silent_p.A342A|RGS12_uc010icv.2_Silent_p.A199A|RGS12_uc003ghb.2_Silent_p.A199A	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1000	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACGGGGCGGCCGCGGACC	0.672		NaN											0	0	0	0.006122	0	13	44				
HGFAC	3083	broad.mit.edu	37	4	3449273	3449273	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3449273G>A	uc003ghc.2	+	11	1413	c.1410G>A	c.(1408-1410)ACG>ACA	p.T470T	HGFAC_uc010icw.2_Silent_p.T477T	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	470	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCAACCGCACGACGGACGTGA	0.662		NaN											0	0	0	0.00361	0	218	127				
STK32B	55351	broad.mit.edu	37	4	5468533	5468533	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:5468533G>A	uc003gih.1	+	10	1077	c.1013G>A	c.(1012-1014)AGG>AAG	p.R338K	STK32B_uc010ida.1_Missense_Mutation_p.R291K	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	338							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						AACAGATCCAGGGATGGCACA	0.517		NaN											0	0	0	0.009535	0	24	15				
HTRA3	94031	broad.mit.edu	37	4	8288388	8288388	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8288388A>C	uc003gla.2	+	3	790	c.586A>C	c.(586-588)AAC>CAC	p.N196H	HTRA3_uc003gkz.2_Missense_Mutation_p.N196H	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	196	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GGTGTCCAGCAACAGTGCTGC	0.592		NaN											0	0	0	0.001168	0	5	121				
C4orf23	152992	broad.mit.edu	37	4	8469757	8469757	+	Missense_Mutation	SNP	G	G	C	rs35357682	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8469757G>C	uc003glg.1	+	9	1112	c.924G>C	c.(922-924)TGG>TGC	p.W308C	C4orf23_uc003glf.1_Missense_Mutation_p.W296C|C4orf23_uc003glh.1_Missense_Mutation_p.W145C	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	537					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						CACCTGGCTGGGAGCTTTCCC	0.587		NaN											0	0	0	0.008871	0	15	10				
LDB2	9079	broad.mit.edu	37	4	16900017	16900017	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:16900017C>T	uc003goz.2	-	1	408	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	LDB2_uc003gpa.2_Missense_Mutation_p.R31Q|LDB2_uc003gpb.2_Missense_Mutation_p.R31Q|LDB2_uc011bxh.1_Missense_Mutation_p.R31Q|LDB2_uc010iee.2_Missense_Mutation_p.R31Q	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	31							LIM domain binding|transcription cofactor activity				0						CTCATAGATTCGGTACTCTGG	0.453		NaN											0	0	0	0.00499	0	17	49				
FRYL	285527	broad.mit.edu	37	4	48592691	48592691	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:48592691C>G	uc003gyh.1	-	17	2097	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q	FRYL_uc003gyk.2_Missense_Mutation_p.E498Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ACTTTTGCTTCTTCATCTGTC	0.299		NaN											0	0	0	0.004007	0	13	22				
PDGFRA	5156	broad.mit.edu	37	4	55144549	55144549	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:55144549G>C	uc003han.3	+	15	2354	c.2023G>C	c.(2023-2025)GAG>CAG	p.E675Q	PDGFRA_uc003haa.2_Missense_Mutation_p.E435Q|PDGFRA_uc010igq.1_Missense_Mutation_p.E569Q|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.E54Q	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	675	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CATCATCACAGAGTATTGCTT	0.433		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.00333	0	17	26				
LPHN3	23284	broad.mit.edu	37	4	62800644	62800644	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:62800644G>T	uc010ihh.2	+	11	2168	c.1995G>T	c.(1993-1995)GCG>GCT	p.A665A	LPHN3_uc003hcq.3_Silent_p.A665A|LPHN3_uc003hct.2_Silent_p.A58A|LPHN3_uc003hcs.1_Silent_p.A481A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	652	Extracellular (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						AGCTGCGTGCGGCCACCATGT	0.463		NaN											1	0	5.4927e-09	0.004482	5.8158e-09	7	27				
C4orf35	85438	broad.mit.edu	37	4	71201390	71201390	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71201390A>G	uc003hff.2	+	1	720	c.634A>G	c.(634-636)ATT>GTT	p.I212V		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	212						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				TGATTCCACTATTCCTGAGGC	0.428		NaN											0	0	0	0.00632	0	18	26				
MUC7	4589	broad.mit.edu	37	4	71347138	71347138	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71347138C>T	uc011cat.1	+	4	965	c.677C>T	c.(676-678)CCA>CTA	p.P226L	MUC7_uc011cau.1_Missense_Mutation_p.P226L|MUC7_uc003hfj.2_Missense_Mutation_p.P226L|uc011cav.1_Intron	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	226	3.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582		NaN											0	0	0	0.000602	0	5	244				
RASGEF1B	153020	broad.mit.edu	37	4	82355883	82355883	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:82355883C>T	uc003hmi.1	-	11	1254	c.1110G>A	c.(1108-1110)GTG>GTA	p.V370V	RASGEF1B_uc003hmj.1_Silent_p.V369V|RASGEF1B_uc010ijq.1_Silent_p.V328V	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	370	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AGAATGGTATCACAATCTAGA	0.358		NaN											0	0	0	0.004482	0	7	5				
MRPS18C	51023	broad.mit.edu	37	4	84382165	84382165	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:84382165T>A	uc003hor.3	+	5	445	c.332T>A	c.(331-333)ATT>AAT	p.I111N	MRPS18C_uc011ccu.1_Missense_Mutation_p.I111N|FAM175A_uc003hot.2_3'UTR|FAM175A_uc003hou.2_3'UTR|FAM175A_uc003hov.2_3'UTR	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C precursor	111					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Hepatocellular(203;0.114)				ACAAAAGCAATTAAGAGAGCT	0.279		NaN											0	0	0	0.006214	0	7	23				
MAPK10	5602	broad.mit.edu	37	4	87080492	87080492	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:87080492C>T	uc003hpq.2	-	3	262	c.195G>A	c.(193-195)CAG>CAA	p.Q65Q	MAPK10_uc010ikg.2_Silent_p.Q27Q|MAPK10_uc003hpr.2_Silent_p.Q27Q|MAPK10_uc003hps.2_Silent_p.Q65Q|MAPK10_uc003hpt.2_Silent_p.Q65Q|MAPK10_uc003hpu.2_Silent_p.Q65Q|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|uc003hpw.2_Intron	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	65	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCTTTAGATTCTGGTAGCGCT	0.443		NaN											0	0	0	0.010729	0	11	45				
RG9MTD2	93587	broad.mit.edu	37	4	100479265	100479265	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:100479265C>T	uc003huy.2	-	3	602	c.289G>A	c.(289-291)GTT>ATT	p.V97I	RG9MTD2_uc003huz.3_Missense_Mutation_p.V97I|RG9MTD2_uc003hva.3_Missense_Mutation_p.V97I	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	97							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTGCTATGAACAACATCTCTT	0.353		NaN											0	0	0	0.00245	0	13	11				
ENPEP	2028	broad.mit.edu	37	4	111441503	111441503	+	Missense_Mutation	SNP	C	C	G	rs138043602	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:111441503C>G	uc003iab.3	+	10	2050	c.1708C>G	c.(1708-1710)CAG>GAG	p.Q570E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	570	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAACCCTTCTCAGCCCCCTTC	0.413		NaN											0	0	0	0.005443	0	21	18				
ANK2	287	broad.mit.edu	37	4	114179491	114179491	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:114179491T>C	uc003ibe.3	+	13	1410	c.1310T>C	c.(1309-1311)GTG>GCG	p.V437A	ANK2_uc003ibd.3_Missense_Mutation_p.V416A|ANK2_uc003ibf.3_Missense_Mutation_p.V437A|ANK2_uc003ibc.2_Missense_Mutation_p.V413A|ANK2_uc011cgb.1_Missense_Mutation_p.V452A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	437	ANK 13.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAATACATGTGGCTGCCTTC	0.488		NaN											0	0	0	0.005524	0	28	96				
SYNPO2	171024	broad.mit.edu	37	4	119951885	119951885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:119951885C>T	uc003icm.3	+	4	2151	c.1955C>T	c.(1954-1956)CCT>CTT	p.P652L	SYNPO2_uc010ina.2_Missense_Mutation_p.P652L|SYNPO2_uc010inb.2_Missense_Mutation_p.P652L|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P580L	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	652	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TGGCCCCAGCCTGCCCCGTGG	0.582		NaN											0	0	0	0.004289	0	28	24				
PDE5A	8654	broad.mit.edu	37	4	120527872	120527872	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:120527872C>A	uc003idh.2	-	2	888	c.733G>T	c.(733-735)GCA>TCA	p.A245S	PDE5A_uc003idf.2_Missense_Mutation_p.A203S|PDE5A_uc003idg.2_Missense_Mutation_p.A193S	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	245	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACCTCATATGCATCTTTGATG	0.507		NaN											1	0	2.29192e-23	0.00361	2.63175e-23	39	44				
ANKRD50	57182	broad.mit.edu	37	4	125593360	125593360	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:125593360G>A	uc003ifg.3	-	3	1338	c.1072C>T	c.(1072-1074)CTT>TTT	p.L358F	ANKRD50_uc011cgo.1_Missense_Mutation_p.L179F|ANKRD50_uc010inw.2_Missense_Mutation_p.L358F	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	358										central_nervous_system(1)	1						CAGGCTGCAAGAATCACATTC	0.383		NaN											0	0	0	0.010818	0	25	50				
INPP4B	8821	broad.mit.edu	37	4	143007320	143007320	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:143007320C>T	uc003iix.3	-	25	3059	c.2464G>A	c.(2464-2466)GAA>AAA	p.E822K	INPP4B_uc003iiw.3_Missense_Mutation_p.E822K|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E637K|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	822					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					CACATAATTTCTACATTCTTT	0.358		NaN											0	0	0	0.004007	0	11	8				
GUCY1A3	2982	broad.mit.edu	37	4	156634314	156634314	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:156634314C>T	uc003iov.2	+	8	1687	c.1151C>T	c.(1150-1152)TCA>TTA	p.S384L	GUCY1A3_uc010iqc.2_Missense_Mutation_p.S384L|GUCY1A3_uc003iow.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S383L|GUCY1A3_uc003iox.2_Missense_Mutation_p.S384L|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S384L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTTTGGGGTCACCCTGTGTG	0.428		NaN											0	0	0	0.010504	0	18	32				
TMEM144	55314	broad.mit.edu	37	4	159174635	159174635	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:159174635A>G	uc003ipx.2	+	13	1514	c.994A>G	c.(994-996)ATC>GTC	p.I332V	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	332	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGCATTTTGCATCATCTTGAC	0.378		NaN											0	0	0	0.00623	0	27	62				
ADAM29	11086	broad.mit.edu	37	4	175898028	175898028	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:175898028C>G	uc003iuc.2	+	5	2022	c.1352C>G	c.(1351-1353)TCA>TGA	p.S451*	ADAM29_uc003iud.2_Nonsense_Mutation_p.S451*|ADAM29_uc010irr.2_Nonsense_Mutation_p.S451*|ADAM29_uc011cki.1_Nonsense_Mutation_p.S451*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	451	Disintegrin.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCTACCATCAGGGAAAGTG	0.443		NaN											0	0	0	0.002299	0	15	29				
WDR17	116966	broad.mit.edu	37	4	177089822	177089822	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:177089822G>A	uc003iuj.2	+	25	3263	c.3107G>A	c.(3106-3108)AGG>AAG	p.R1036K	WDR17_uc003iuk.2_Missense_Mutation_p.R1012K|WDR17_uc003ium.3_Splice_Site_p.W997_splice|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Splice_Site_p.R247_splice	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1036										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACGTTAACAGGAATTTGGCA	0.338		NaN											0	0	0	0.010729	0	7	43				
CDKN2AIP	55602	broad.mit.edu	37	4	184367945	184367945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:184367945C>T	uc003ivp.1	+	3	1270	c.1108C>T	c.(1108-1110)CTA>TTA	p.L370L	CDKN2AIP_uc003ivq.1_Silent_p.L115L	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	370	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGCTGCATCACTACTAGCTTC	0.488		NaN											0	0	0	0.00632	0	21	38				
SORBS2	8470	broad.mit.edu	37	4	186544731	186544731	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:186544731C>G	uc003iyl.2	-	13	2698	c.1840G>C	c.(1840-1842)GAG>CAG	p.E614Q	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E714Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E518Q|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E728Q|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	614						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATGACCCCTCTAGGTGAATG	0.463		NaN											0	0	0	0.003271	0	29	23				
DNAH5	1767	broad.mit.edu	37	5	13753590	13753590	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:13753590G>A	uc003jfd.2	-	63	10666	c.10624C>T	c.(10624-10626)CTG>TTG	p.L3542L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3542					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCATTTAACAGAAGATCACGA	0.373		NaN							Kartagener_syndrome				0	0	0	0.007835	0	33	68				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:23527693T>C	uc003jgo.2	+	11	2678	c.2496T>C	c.(2494-2496)TAT>TAC	p.Y832Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832	C2H2-type 13.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAGCCCTATGTCTGCAGGG	0.587		NaN								HNSCC(3;0.000094)			0	0	0	0.006214	0	6	161				
RNASEN	29102	broad.mit.edu	37	5	31431748	31431748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:31431748C>T	uc003jhg.2	-	25	3439	c.3080G>A	c.(3079-3081)GGG>GAG	p.G1027E	RNASEN_uc003jhh.2_Missense_Mutation_p.G990E|RNASEN_uc003jhi.2_Missense_Mutation_p.G990E	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1027	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AAGGTCAGGCCCGTGAGCATA	0.373		NaN											0	0	0	0.011902	0	30	48				
C9	735	broad.mit.edu	37	5	39288867	39288867	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:39288867C>G	uc003jlv.3	-	10	1692	c.1603G>C	c.(1603-1605)GAG>CAG	p.E535Q		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	535	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCAATTCCCTCAAATTTGAAT	0.348		NaN											0	0	0	0.00361	0	50	82				
PAIP1	10605	broad.mit.edu	37	5	43547879	43547879	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:43547879A>T	uc003job.2	-	3	819	c.572T>A	c.(571-573)GTT>GAT	p.V191D	PAIP1_uc003joa.2_Missense_Mutation_p.V112D|PAIP1_uc010ivp.2_Missense_Mutation_p.V112D|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.V79D	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	191	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					ATCTGTTGTAACACAACCATT	0.408		NaN											0	0	0	0.00361	0	56	63		Valid		
HCN1	348980	broad.mit.edu	37	5	45303881	45303881	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:45303881C>A	uc003jok.2	-	6	1463	c.1438G>T	c.(1438-1440)GAT>TAT	p.D480Y		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	480	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AAATTAGGATCCGCATTAGCA	0.383		NaN											1	0	1.21826e-31	0.00361	1.42594e-31	60	88				
GPR98	84059	broad.mit.edu	37	5	90101230	90101230	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90101230G>C	uc003kju.2	+	72	14887	c.14791G>C	c.(14791-14793)GAA>CAA	p.E4931Q	GPR98_uc003kjt.2_Missense_Mutation_p.E2637Q|GPR98_uc003kjw.2_Missense_Mutation_p.E592Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4931	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGGGTTAGAAATTCCTGA	0.453		NaN											0	0	0	0.00361	0	38	2				
GPR98	84059	broad.mit.edu	37	5	90106817	90106817	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90106817G>A	uc003kju.2	+	74	15836	c.15740G>A	c.(15739-15741)AGA>AAA	p.R5247K	GPR98_uc003kjt.2_Missense_Mutation_p.R2953K|GPR98_uc003kjw.2_Missense_Mutation_p.R908K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5247	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTATCCGAAGAACTGGTGGG	0.418		NaN											0	0	0	0.012213	0	31	0				
DMXL1	1657	broad.mit.edu	37	5	118440935	118440935	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:118440935A>G	uc003ksd.2	+	4	527	c.346A>G	c.(346-348)ATA>GTA	p.I116V	DMXL1_uc010jcl.1_Missense_Mutation_p.I116V|DMXL1_uc003ksc.1_Missense_Mutation_p.I116V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	116	WD 1.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCACACAATATAACCTGGGA	0.318		NaN											0	0	0	0.004289	0	27	23				
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:127674745C>A	uc003kuu.2	-	26	3791	c.3352G>T	c.(3352-3354)GAG>TAG	p.E1118*	FBN2_uc003kuv.2_Nonsense_Mutation_p.E1085*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1118	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458		NaN											1	0	1.67305e-13	0.00623	1.83567e-13	26	28				
LECT2	3950	broad.mit.edu	37	5	135288607	135288607	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:135288607C>A	uc003lbe.1	-	2	297	c.96G>T	c.(94-96)GAG>GAT	p.E32D		NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	32					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGTCCGGATCTCATTGGAAG	0.507		NaN											1	0	6.40141e-05	0.010729	6.55898e-05	8	283				
FAM13B	51306	broad.mit.edu	37	5	137347541	137347541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:137347541C>G	uc003lbz.2	-	5	998	c.464G>C	c.(463-465)AGA>ACA	p.R155T	FAM13B_uc003lcb.2_Missense_Mutation_p.R37T|FAM13B_uc003lca.2_Missense_Mutation_p.R155T	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	155	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GGCTAAAAATCTACACAGAAA	0.338		NaN											0	0	0	0.010818	0	24	25				
PCDHA6	56142	broad.mit.edu	37	5	140209923	140209923	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140209923G>A	uc003lho.2	+	1	2274	c.2247G>A	c.(2245-2247)TCG>TCA	p.S749S	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.S749S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	749	Cytoplasmic (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)			GGAGCTGGTCGTACTCGCAGC	0.657		NaN											0	0	0	0.001168	0	3	52				
PCDHA8	56140	broad.mit.edu	37	5	140221688	140221688	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140221688T>A	uc003lhs.2	+	1	782	c.782T>A	c.(781-783)GTT>GAT	p.V261D	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_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V261D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	261	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACAACAGTTATCAAACTG	0.408		NaN											0	0	0	0.008361	0	27	38				
PCDHA12	56137	broad.mit.edu	37	5	140255207	140255207	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140255207G>A	uc003lic.2	+	1	277	c.150G>A	c.(148-150)CAG>CAA	p.Q50Q	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_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.Q50Q	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	50	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCTCAGGACCTGGGGC	0.642		NaN											0	0	0	0.007291	0	21	35				
PCDHB16	57717	broad.mit.edu	37	5	140563833	140563833	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140563833A>G	uc003liv.2	+	1	2854	c.1699A>G	c.(1699-1701)AAC>GAC	p.N567D		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	567	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCTGCAGAACGGCTCCGC	0.711		NaN											0	0	0	0.004656	0	20	86				
PCDHB10	56126	broad.mit.edu	37	5	140573673	140573673	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140573673C>T	uc003lix.2	+	1	1722	c.1548C>T	c.(1546-1548)CTC>CTT	p.L516L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	516	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.706		NaN											0	0	0	0.00361	0	76	224				
PCDHGA11	56105	broad.mit.edu	37	5	140800805	140800805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140800805G>A	uc003lkq.1	+	1	269	c.11G>A	c.(10-12)CGG>CAG	p.R4Q	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_uc003lko.1_Missense_Mutation_p.R4Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R4Q	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	4					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)			ATGGCGAATCGGCTACAGCGC	0.592		NaN											0	0	0	0.004482	0	5	15				
ARAP3	64411	broad.mit.edu	37	5	141035204	141035204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141035204G>A	uc003llm.2	-	31	4172	c.4094C>T	c.(4093-4095)TCT>TTT	p.S1365F	ARAP3_uc003lll.2_Missense_Mutation_p.S316F|ARAP3_uc011dbe.1_Missense_Mutation_p.S1027F|ARAP3_uc003lln.2_Missense_Mutation_p.S1196F	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1365					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CTGATTGGCAGAGAGGAGGGT	0.587		NaN											0	0	0	0.00499	0	13	74				
PCDH1	5097	broad.mit.edu	37	5	141243228	141243228	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141243228T>C	uc003llq.2	-	3	2785	c.2668A>G	c.(2668-2670)AAG>GAG	p.K890E	PCDH1_uc003llp.2_Missense_Mutation_p.K890E|PCDH1_uc011dbf.1_Missense_Mutation_p.K868E	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	890	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTCTCCTTCTTACCAGCCTGG	0.587		NaN											0	0	0	0.00361	0	92	97				
SLC6A7	6534	broad.mit.edu	37	5	149585112	149585112	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:149585112G>A	uc003lrr.2	+	13	1998	c.1627G>A	c.(1627-1629)GGC>AGC	p.G543S		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	543	Helical; Name=12; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATCCTGATGGGCCTGCTGTC	0.612		NaN											0	0	0	0.00361	0	60	47				
SYNPO	11346	broad.mit.edu	37	5	150029566	150029566	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:150029566A>C	uc003lsn.2	+	3	2835	c.2461A>C	c.(2461-2463)ATC>CTC	p.I821L	SYNPO_uc003lso.3_Missense_Mutation_p.I577L|SYNPO_uc003lsp.2_Missense_Mutation_p.I577L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	821	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCACCTATCAAGGAGCC	0.652		NaN											0	0	0	0.00361	0	46	52				
IL12B	3593	broad.mit.edu	37	5	158750268	158750268	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:158750268G>T	uc003lxr.1	-	3	200	c.158C>A	c.(157-159)CCT>CAT	p.P53H		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	53	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCTTCAGGGGTGTCACA	0.483		NaN											1	0	3.57192e-18	0.006122	4.03888e-18	14	17				
ZNF354A	6940	broad.mit.edu	37	5	178139071	178139071	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:178139071T>A	uc003mjj.2	-	5	2006	c.1808A>T	c.(1807-1809)GAG>GTG	p.E603V		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	603					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		CTAGGGGTCCTCTTCGATATG	0.348		NaN											0	0	0	0.00632	0	22	15				
MAPK9	5601	broad.mit.edu	37	5	179675979	179675979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:179675979C>T	uc003mls.3	-	6	881	c.610G>A	c.(610-612)GAG>AAG	p.E204K	MAPK9_uc003mlt.3_Missense_Mutation_p.E204K|MAPK9_uc010jlc.2_Missense_Mutation_p.E204K|MAPK9_uc003mlv.3_Missense_Mutation_p.E204K|MAPK9_uc011dgx.1_Missense_Mutation_p.E204K	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	204	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCGTTCTCTTTGTAGCCC	0.527		NaN											0	0	0	0.00361	0	248	343				
TBC1D7	51256	broad.mit.edu	37	6	13327121	13327121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:13327121C>G	uc003naj.2	-	2	101	c.10G>C	c.(10-12)GAC>CAC	p.D4H	TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.D4H|TBC1D7_uc003nal.2_Missense_Mutation_p.D4H|TBC1D7_uc003nam.2_Missense_Mutation_p.D4H|TBC1D7_uc003nao.2_Missense_Mutation_p.D4H|TBC1D7_uc010jpd.2_Missense_Mutation_p.D4H|TBC1D7_uc003nap.2_Missense_Mutation_p.D4H|TBC1D7_uc003naq.2_Missense_Mutation_p.D4H	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	4					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTCTGAGAGTCCTCAGTCATA	0.383		NaN											0	0	0	0.001168	0	4	22				
KDM1B	221656	broad.mit.edu	37	6	18222170	18222170	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:18222170A>G	uc003nco.1	+	15	1882	c.1807A>G	c.(1807-1809)ACA>GCA	p.T603A	KDM1B_uc003ncn.1_Missense_Mutation_p.T574A|KDM1B_uc003ncp.1_Missense_Mutation_p.T159A|KDM1B_uc003ncq.1_Missense_Mutation_p.Y157C	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	806					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						ACAAACTGTTACAGGGGCATA	0.398		NaN											0	0	0	0.010729	0	7	136				
RNF39	80352	broad.mit.edu	37	6	30043128	30043128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30043128C>T	uc003npe.2	-	1	501	c.439G>A	c.(439-441)GTG>ATG	p.V147M	RNF39_uc003npd.2_Missense_Mutation_p.V147M	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	147						cytoplasm	zinc ion binding				0						GCCAGCCGCACATTAGACCTC	0.751		NaN											0	0	0	0.008291	0	8	0				
MUC21	394263	broad.mit.edu	37	6	30954960	30954960	+	Silent	SNP	C	C	T	rs41288683		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30954960C>T	uc003nsh.2	+	2	1259	c.1008C>T	c.(1006-1008)AGC>AGT	p.S336S	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	336	Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CTGAGTCCAGCACGACCTCCA	0.627		NaN											0	0	0	0.009535	0	9	376				
MICB	4277	broad.mit.edu	37	6	31473433	31473433	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:31473433A>G	uc003ntn.3	+	2	226	c.110A>G	c.(109-111)CAG>CGG	p.Q37R	MICB_uc011dnm.1_Missense_Mutation_p.Q5R|MICB_uc003nto.3_Missense_Mutation_p.Q37R	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	37	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						GTGCTGTCCCAGGATGGATCT	0.522		NaN											0	0	0	0.009096	0	3	124				
COL11A2	1302	broad.mit.edu	37	6	33141522	33141522	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:33141522C>T	uc003ocx.1	-	35	2812	c.2584G>A	c.(2584-2586)GGA>AGA	p.G862R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G776R|COL11A2_uc003ocz.1_Missense_Mutation_p.G755R	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	862	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCAGATGTTCCCTGTGGGGGG	0.642		NaN											0	0	0	0.002299	0	18	0				
GRM4	2914	broad.mit.edu	37	6	34003490	34003490	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:34003490C>A	uc003oir.3	-	8	2567	c.2397G>T	c.(2395-2397)CTG>CTT	p.L799L	GRM4_uc011dsn.1_Silent_p.L752L|GRM4_uc010jvh.2_Silent_p.L799L|GRM4_uc010jvi.2_Silent_p.L491L|GRM4_uc003oio.2_Silent_p.L491L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L659L|GRM4_uc003oiq.2_Silent_p.L666L|GRM4_uc011dsm.1_Silent_p.L630L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	799	Helical; Name=6; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGATGAAGGCCAGCCAGACGA	0.622		NaN											1	0	4.13886e-29	0.00361	4.81061e-29	46	2				
FKBP5	2289	broad.mit.edu	37	6	35586902	35586902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:35586902G>C	uc011dte.1	-	5	682	c.479C>G	c.(478-480)TCA>TGA	p.S160*	FKBP5_uc003okx.2_Nonsense_Mutation_p.S160*|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Nonsense_Mutation_p.S160*|FKBP5_uc003okz.2_Nonsense_Mutation_p.S160*	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	160	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTTTGGATTTGAATATCCCTC	0.383		NaN											0	0	0	0.00361	0	47	4				
MTCH1	23787	broad.mit.edu	37	6	36937845	36937845	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:36937845C>G	uc003ond.1	-	11	1068	c.1068G>C	c.(1066-1068)TGG>TGC	p.W356C	MTCH1_uc003onc.1_Missense_Mutation_p.W339C|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.W356C|MTCH1_uc011dtt.1_Missense_Mutation_p.W171C	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	356					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						AGCAGTGAATCCAGGATTTGA	0.552		NaN											0	0	0	0.00361	0	54	3				
TSPO2	222642	broad.mit.edu	37	6	41010863	41010863	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:41010863T>C	uc003opj.2	+	2	440	c.139T>C	c.(139-141)TTG>CTG	p.L47L	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.Y56Y|TSPO2_uc011dub.1_Silent_p.L47L	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	47	Helical; (Potential).				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0						CAAAGTCTTATTGCTTGTACA	0.537		NaN											0	0	0	0.00361	0	43	89				
GUCA1B	2979	broad.mit.edu	37	6	42156424	42156424	+	Missense_Mutation	SNP	C	C	T	rs147956742	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:42156424C>T	uc003orz.2	-	2	389	c.253G>A	c.(253-255)GTG>ATG	p.V85M		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	85	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCCTCAGCACGAGATTCAGA	0.547		NaN											0	0	0	0.008291	0	9	22				
CENPQ	55166	broad.mit.edu	37	6	49448703	49448703	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:49448703A>T	uc003ozh.1	+	6	476	c.387A>T	c.(385-387)AAA>AAT	p.K129N		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	129					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				ovary(2)	2	Lung NSC(77;0.0128)					TCCCTCCCAAAAAGATGGAAG	0.303		NaN											0	0	0	0.008871	0	13	26				
MCM3	4172	broad.mit.edu	37	6	52141909	52141909	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:52141909G>A	uc003pan.1	-	8	1231	c.1121C>T	c.(1120-1122)TCT>TTT	p.S374F	MCM3_uc011dwu.1_Missense_Mutation_p.S328F	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	374	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					ACCCACTCCAGAGGAGCCCCG	0.602		NaN											0	0	0	0.008871	0	16	30				
B3GAT2	135152	broad.mit.edu	37	6	71665987	71665987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:71665987C>T	uc003pfv.2	-	1	802	c.146G>A	c.(145-147)GGC>GAC	p.G49D	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.G49D	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	49	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGTCGGGCGCCCCCGCGGCC	0.711		NaN											0	0	0	0.001168	0	5	2				
OGFRL1	79627	broad.mit.edu	37	6	72011571	72011571	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:72011571G>A	uc003pfx.1	+	7	1338	c.1175G>A	c.(1174-1176)AGA>AAA	p.R392K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	392						membrane	receptor activity				0						GCCAAGCCAAGAAATACAGAG	0.448		NaN											0	0	0	0.010729	0	9	14				
DOPEY1	23033	broad.mit.edu	37	6	83835289	83835289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:83835289G>A	uc003pjs.1	+	15	1816	c.1556G>A	c.(1555-1557)AGC>AAC	p.S519N	DOPEY1_uc011dyy.1_Missense_Mutation_p.S510N|DOPEY1_uc010kbl.1_Missense_Mutation_p.S510N	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	519					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)		GCCTTGACAAGCCATCTCCAG	0.418		NaN											0	0	0	0.00361	0	43	82				
SPACA1	81833	broad.mit.edu	37	6	88775899	88775899	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88775899G>T	uc003pmn.2	+	7	849	c.732_splice	c.e7-1	p.W244_splice		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor							integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTCCAGGGCAGCAGTC	0.343		NaN											1	0	5.16669e-11	0.010729	5.57701e-11	10	31				
CNR1	1268	broad.mit.edu	37	6	88854586	88854586	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88854586C>A	uc011dzq.1	-	2	3971	c.408G>T	c.(406-408)CTG>CTT	p.L136L	CNR1_uc010kbz.2_Silent_p.L136L|CNR1_uc011dzr.1_Silent_p.L136L|CNR1_uc011dzs.1_Silent_p.L136L|CNR1_uc003pmq.3_Silent_p.L136L|CNR1_uc011dzt.1_Silent_p.L136L|CNR1_uc010kca.2_Silent_p.L103L	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	136	Helical; Name=1; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGCACAGCACCAGGAGGTTCT	0.617		NaN											1	0	5.3912e-06	0.006122	5.55811e-06	12	7				
KIAA0776	23376	broad.mit.edu	37	6	97000455	97000455	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:97000455C>A	uc003por.2	+	18	2131	c.2083C>A	c.(2083-2085)CAG>AAG	p.Q695K	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	695					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CCTGTTGTTTCAGTTTTCAAC	0.423		NaN											1	0	9.39395e-14	0.00632	1.0324e-13	22	20				
TRDN	10345	broad.mit.edu	37	6	123759226	123759226	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123759226T>C	uc003pzj.1	-	12	1055	c.1033A>G	c.(1033-1035)ATT>GTT	p.I345V	TRDN_uc003pzk.1_Missense_Mutation_p.I346V|TRDN_uc003pzl.1_Missense_Mutation_p.I346V|uc003pzm.1_5'Flank	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	345	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		TCCACATCAATGGCAGTTTCC	0.338		NaN											0	0	0	0.001984	0	5	0				
EYA4	2070	broad.mit.edu	37	6	133769307	133769307	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:133769307T>A	uc003qec.3	+	5	725	c.267T>A	c.(265-267)TCT>TCA	p.S89S	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Silent_p.S89S|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Silent_p.S89S|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	89					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACACCCCCTCTTCTGCAACAA	0.448		NaN											0	0	0	0.005524	0	28	23				
CNKSR3	154043	broad.mit.edu	37	6	154727695	154727695	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:154727695G>A	uc003qpy.2	-	13	1966	c.1461C>T	c.(1459-1461)CCC>CCT	p.P487P		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	487	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GCTCGGTCGTGGGTCTGGAGA	0.577		NaN											0	0	0	0.002836	0	31	23				
ARID1B	57492	broad.mit.edu	37	6	157222596	157222596	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:157222596G>T	uc003qqn.2	+	3	1802	c.1650G>T	c.(1648-1650)CCG>CCT	p.P550P	ARID1B_uc003qqo.2_Silent_p.P563P|ARID1B_uc003qqp.2_Silent_p.P550P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	608	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCAGCCCCCGCACCTCCCAC	0.617		NaN											1	0	3.52763e-06	0.00499	3.64248e-06	12	25				
RSPH3	83861	broad.mit.edu	37	6	159404769	159404769	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:159404769C>T	uc003qrx.2	-	4	1033	c.843G>A	c.(841-843)TTG>TTA	p.L281L	RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Silent_p.L281L	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	281										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTGGTCTGTCCAAAAATGCAT	0.393		NaN											0	0	0	0.005443	0	21	30				
LPA	4018	broad.mit.edu	37	6	161022029	161022029	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:161022029C>A	uc003qtl.2	-	20	3167	c.3047G>T	c.(3046-3048)CGA>CTA	p.R1016L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3524	Kringle 31.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGAGCATCGTGTCAGGTT	0.498		NaN											1	0	1.10513e-12	0.002299	1.20461e-12	16	16				
T	6862	broad.mit.edu	37	6	166571949	166571949	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:166571949G>A	uc003quu.1	-	9	1655	c.1162C>T	c.(1162-1164)CAT>TAT	p.H388Y	T_uc003qut.1_Missense_Mutation_p.H389Y|T_uc003quv.1_Missense_Mutation_p.H330Y	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	388					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAGACCGGATGGGTGAGGGGT	0.716		NaN							Chordoma_Familial_Clustering_of				0	0	0	0.008871	0	14	12				
ICA1	3382	broad.mit.edu	37	7	8196838	8196838	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:8196838G>C	uc003srm.2	-	8	779	c.712C>G	c.(712-714)CTG>GTG	p.L238V	ICA1_uc010ktr.2_Missense_Mutation_p.L238V|ICA1_uc003srl.2_Missense_Mutation_p.L226V|ICA1_uc003srn.3_Missense_Mutation_p.L164V|ICA1_uc003srp.3_Missense_Mutation_p.L237V|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Missense_Mutation_p.L238V|ICA1_uc003srr.2_Missense_Mutation_p.L237V|ICA1_uc003sro.3_Missense_Mutation_p.L238V|ICA1_uc011jxg.1_Missense_Mutation_p.L238V|ICA1_uc003srs.1_Missense_Mutation_p.L238V	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	238	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAATGAAGCAGAGTGGTCTGC	0.393		NaN											0	0	0	0.010729	0	8	40				
ETV1	2115	broad.mit.edu	37	7	14026281	14026281	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:14026281C>G	uc011jxq.1	-	5	902	c.163G>C	c.(163-165)GAA>CAA	p.E55Q	ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Missense_Mutation_p.E55Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E55Q|ETV1_uc011jxs.1_Missense_Mutation_p.E55Q|ETV1_uc010ktv.2_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	55					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						AGCCATGTTTCCTGTAATTGA	0.323		NaN	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								0	0	0	0.004482	0	6	30				
ABCB5	340273	broad.mit.edu	37	7	20785059	20785059	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:20785059G>A	uc003suw.3	+	17	2638	c.2092G>A	c.(2092-2094)GAG>AAG	p.E698K	ABCB5_uc010kuh.2_Missense_Mutation_p.E1143K	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	698	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AGGTCTCCCTGAGGTAAGAAA	0.398		NaN											0	0	0	0.008291	0	9	13				
DNAH11	8701	broad.mit.edu	37	7	21826250	21826250	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:21826250C>T	uc003svc.2	+	60	9658	c.9627C>T	c.(9625-9627)CTC>CTT	p.L3209L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3209	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGGTCAACCTCAGTGAGCTGA	0.517		NaN							Kartagener_syndrome				0	0	0	0.005443	0	20	42				
DFNA5	1687	broad.mit.edu	37	7	24756952	24756952	+	Silent	SNP	G	G	A	rs142033677		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:24756952G>A	uc010kus.1	-	5	706	c.618C>T	c.(616-618)AAC>AAT	p.N206N	DFNA5_uc003swz.2_Silent_p.N42N|DFNA5_uc003sxa.1_Silent_p.N206N|DFNA5_uc010kut.1_Silent_p.N42N|DFNA5_uc003sxb.2_Silent_p.N206N	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	206					sensory perception of sound					ovary(1)	1						CCAGCACCACGTTGGAGTCCT	0.582		NaN											0	0	0	0.006999	0	32	17				
CREB5	9586	broad.mit.edu	37	7	28763907	28763907	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:28763907T>A	uc003szq.2	+	7	1050	c.660T>A	c.(658-660)TGT>TGA	p.C220*	CREB5_uc003szo.2_Nonsense_Mutation_p.C187*|CREB5_uc003szr.2_Nonsense_Mutation_p.C213*|CREB5_uc003szs.2_Nonsense_Mutation_p.C81*|CREB5_uc011jzr.1_Nonsense_Mutation_p.C69*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	220					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GCAACCCCTGTGCTTCTCCCC	0.408		NaN											0	0	0	0.006122	0	12	27				
FAM188B	84182	broad.mit.edu	37	7	30831104	30831104	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:30831104C>G	uc003tbt.2	+	5	1064	c.987C>G	c.(985-987)CTC>CTG	p.L329L	FAM188B_uc010kwe.2_Silent_p.L300L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	329											0						CCTTGAAGCTCTACTTGCCTG	0.627		NaN											0	0	0	0.001368	0	10	35				
GHRHR	2692	broad.mit.edu	37	7	31014105	31014105	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:31014105G>A	uc003tbx.2	+	8	860	c.812_splice	c.e8+1	p.A271_splice	GHRHR_uc003tbw.1_Splice_Site_p.A271_splice|GHRHR_uc003tby.2_Splice_Site_p.A207_splice|GHRHR_uc003tbz.2_Splice_Site_p.R37_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	AGGACATCGCGTGAGTCGGAG	0.617		NaN											0	0	0	0.010818	0	25	71				
POU6F2	11281	broad.mit.edu	37	7	39247149	39247149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:39247149C>A	uc003thb.1	+	4	483	c.441C>A	c.(439-441)ACC>ACA	p.T147T	POU6F2_uc010kxo.2_Silent_p.T139T	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	147					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CGAATCTCACCAACATCCAAG	0.552		NaN											1	0	3.52763e-06	0.00499	3.64248e-06	17	26				
TNS3	64759	broad.mit.edu	37	7	47408849	47408849	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:47408849T>A	uc003tnv.2	-	17	1761	c.1394A>T	c.(1393-1395)AAT>ATT	p.N465I	TNS3_uc003tnw.2_Missense_Mutation_p.N465I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	465						focal adhesion	protein binding			ovary(4)	4						AGCGTCTCCATTCACGTGAAC	0.582		NaN											0	0	0	0.00333	0	18	24				
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48081010C>T	uc003toh.3	+	3	347	c.135C>T	c.(133-135)AGC>AGT	p.S45S	C7orf57_uc003toi.3_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	45										ovary(1)	1						CAGGTCTCAGCAATTTGGGAG	0.537		NaN											0	0	0	0.004007	0	13	23				
ABCA13	154664	broad.mit.edu	37	7	48316091	48316091	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48316091A>G	uc003toq.2	+	17	6853	c.6828A>G	c.(6826-6828)CTA>CTG	p.L2276L	ABCA13_uc010kyr.2_Silent_p.L1779L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2276					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCCTTTTTCTAAAGGAAGATT	0.343		NaN											0	0	0	0.001855	0	12	8				
IKZF1	10320	broad.mit.edu	37	7	50468169	50468169	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:50468169G>T	uc003tow.3	+	9	1572	c.1404G>T	c.(1402-1404)CGG>CGT	p.R468R	IKZF1_uc003tox.3_Silent_p.R426R|IKZF1_uc003toy.3_Silent_p.R426R|IKZF1_uc011kck.1_Silent_p.R381R|IKZF1_uc003toz.3_Silent_p.R438R|IKZF1_uc010kyx.2_Silent_p.R208R|IKZF1_uc003tpa.3_Silent_p.R210R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	468	C2H2-type 5.|Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACACTGCCGGGTGCTCTTCC	0.622		NaN	D		ALL								1	0	3.11337e-16	0.002836	3.47904e-16	22	14				
POM121L12	285877	broad.mit.edu	37	7	53103682	53103682	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:53103682C>G	uc003tpz.2	+	1	334	c.318C>G	c.(316-318)ACC>ACG	p.T106T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	106											0						CCGGGGAGACCGCTCTGGGGC	0.711		NaN											0	0	0	0.004482	0	8	15				
ZNF713	349075	broad.mit.edu	37	7	56006860	56006860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:56006860G>A	uc003trc.1	+	4	492	c.454G>A	c.(454-456)GGA>AGA	p.G152R	ZNF713_uc003tra.1_Missense_Mutation_p.G165R|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGATATTTAGGACAAGTAAC	0.413		NaN											0	0	0	0.004007	0	12	11				
ZNF679	168417	broad.mit.edu	37	7	63721301	63721301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:63721301C>T	uc003tsx.2	+	4	525	c.256C>T	c.(256-258)CAC>TAC	p.H86Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGTAACCAAACACCCAGGTAA	0.428		NaN											0	0	0	0.004672	0	3	21				
SRRM3	222183	broad.mit.edu	37	7	75890733	75890733	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:75890733G>A	uc010ldi.2	+	7	847	c.638_splice	c.e7+1	p.R213_splice		NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						GCCGAGACAGGTACCCTTGCT	0.667		NaN											0	0	0	0.002299	0	16	1				
PION	54103	broad.mit.edu	37	7	76950709	76950709	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:76950709A>G	uc003ugf.2	-	25	2014	c.1935T>C	c.(1933-1935)ATT>ATC	p.I645I	PION_uc011kgo.1_Intron|PION_uc003ugd.2_Silent_p.I39I	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	645					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CGATGTGGCAAATGAGATCCA	0.453		NaN											0	0	0	0.00308	0	4	86				
MTERF	7978	broad.mit.edu	37	7	91503775	91503775	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:91503775A>T	uc003ulb.1	-	2	377	c.333T>A	c.(331-333)CTT>CTA	p.L111L	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L111L|MTERF_uc011khm.1_Silent_p.L91L|MTERF_uc010leu.1_Silent_p.L91L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	111					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTTTGGAAAGAAGGAACATCT	0.428		NaN											0	0	0	0.00361	0	93	40				
NPTX2	4885	broad.mit.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:98256632C>T	uc003upl.2	+	4	1221	c.1044C>T	c.(1042-1044)GGC>GGT	p.G348G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	348	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677		NaN											0	0	0	0.00361	0	53	11				
ZNF394	84124	broad.mit.edu	37	7	99097527	99097527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:99097527G>A	uc003uqs.2	-	1	351	c.190C>T	c.(190-192)CGA>TGA	p.R64*	ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Nonsense_Mutation_p.R64*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	64	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTGCAGTCGAGAAGTTTCG	0.627		NaN											0	0	0	0.001984	0	7	46				
GIGYF1	64599	broad.mit.edu	37	7	100280767	100280767	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100280767G>C	uc003uwg.1	-	19	3289	c.2280C>G	c.(2278-2280)CTC>CTG	p.L760L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	760										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGCCAGCCCAGAGTGGGGGCG	0.677		NaN											0	0	0	0.006214	0	8	1				
MUC17	140453	broad.mit.edu	37	7	100684490	100684490	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100684490A>G	uc003uxp.1	+	3	9846	c.9793A>G	c.(9793-9795)ACT>GCT	p.T3265A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3265	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCCTCCCACTGCTGAAGG	0.517		NaN											0	0	0	0.00361	0	516	155				
NAPEPLD	222236	broad.mit.edu	37	7	102743924	102743924	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:102743924C>G	uc003vbc.2	-	5	1462	c.1134G>C	c.(1132-1134)TTG>TTC	p.L378F	NAPEPLD_uc003vbd.2_Missense_Mutation_p.L378F|NAPEPLD_uc011klj.1_Missense_Mutation_p.L451F|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	378					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1						CTCCATGCTTCAAGACAAAAA	0.348		NaN											0	0	0	0.003163	0	14	7				
MLL5	55904	broad.mit.edu	37	7	104731675	104731675	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:104731675A>G	uc003vcm.2	+	15	2170	c.1636A>G	c.(1636-1638)ATT>GTT	p.I546V	MLL5_uc003vcl.2_Missense_Mutation_p.I546V|MLL5_uc010ljc.2_Missense_Mutation_p.I546V	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	546					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						ACCAGATTTTATTGATGATAT	0.318		NaN											0	0	0	0.004672	0	3	10				
CADPS2	93664	broad.mit.edu	37	7	122377026	122377026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:122377026C>T	uc010lkp.2	-	2	599	c.436G>A	c.(436-438)GTT>ATT	p.V146I	CADPS2_uc010lkq.2_Missense_Mutation_p.V146I	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	146					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TAACTCCGAACTGCGTTGCAA	0.378		NaN											0	0	0	0.001855	0	10	16				
AHCYL2	23382	broad.mit.edu	37	7	129040163	129040163	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:129040163G>C	uc011kov.1	+	6	910	c.856G>C	c.(856-858)GAA>CAA	p.E286Q	AHCYL2_uc003vot.2_Missense_Mutation_p.E285Q|AHCYL2_uc003vov.2_Missense_Mutation_p.E183Q|AHCYL2_uc011kow.1_Missense_Mutation_p.E184Q|AHCYL2_uc011kox.1_Missense_Mutation_p.E183Q	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	286					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GGGAGAGTCAGAAGATGACTT	0.448		NaN											0	0	0	0.002299	0	19	43				
LRGUK	136332	broad.mit.edu	37	7	133812382	133812382	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:133812382G>A	uc003vrm.1	+	1	278	c.262G>A	c.(262-264)GAG>AAG	p.E88K		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	88							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GGCGGGATCCGAGGAGTCCTC	0.617		NaN											0	0	0	0.012213	0	22	39				
SMARCD3	6604	broad.mit.edu	37	7	150939810	150939810	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:150939810C>T	uc003wjs.2	-	4	554	c.453G>A	c.(451-453)ATG>ATA	p.M151I	SMARCD3_uc003wjt.2_Missense_Mutation_p.M138I|SMARCD3_uc003wju.2_Missense_Mutation_p.M138I|SMARCD3_uc011kvh.1_Missense_Mutation_p.M151I|SMARCD3_uc010lqa.1_Missense_Mutation_p.M151I	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	151					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGCACCTTCATGGGCCTCT	0.577		NaN											0	0	0	0.00361	0	54	127				
DPP6	1804	broad.mit.edu	37	7	154598703	154598703	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:154598703G>T	uc003wlk.2	+	16	1677	c.1548_splice	c.e16-1	p.S516_splice	DPP6_uc003wli.2_Splice_Site_p.S452_splice|DPP6_uc003wlm.2_Splice_Site_p.S454_splice|DPP6_uc011kvq.1_Splice_Site_p.S409_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGCTCTTCCAGTGCCAACACG	0.597		NaN											1	0	2.04263e-09	0.004289	2.16969e-09	33	54				
VIPR2	7434	broad.mit.edu	37	7	158851235	158851235	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:158851235G>T	uc003woh.2	-	5	578	c.392C>A	c.(391-393)ACC>AAC	p.T131N	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	131	Helical; Name=1; (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTAGCCCAGTGTATAAATGGC	0.413		NaN											1	0	2.19489e-29	0.00623	2.55559e-29	27	58				
PTK2B	2185	broad.mit.edu	37	8	27277583	27277583	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:27277583G>A	uc003xfn.1	+	8	1184	c.376G>A	c.(376-378)GAG>AAG	p.E126K	PTK2B_uc003xfo.1_Missense_Mutation_p.E126K|PTK2B_uc003xfp.1_Missense_Mutation_p.E126K|PTK2B_uc003xfq.1_Missense_Mutation_p.E126K	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	126	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CGTGGAAGCCGAGTGGAGGTA	0.582		NaN											0	0	0	0.00623	0	29	26				
ANK1	286	broad.mit.edu	37	8	41525865	41525865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:41525865G>T	uc003xok.2	-	39	5398	c.5314C>A	c.(5314-5316)CAG>AAG	p.Q1772K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q926K|ANK1_uc003xoi.2_Missense_Mutation_p.Q1772K|ANK1_uc003xoj.2_Missense_Mutation_p.Q1772K|ANK1_uc003xol.2_Missense_Mutation_p.Q1610K|ANK1_uc003xom.2_Missense_Mutation_p.Q1813K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1772	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGTCGGCCTGGGAGCTCTCA	0.617		NaN											1	0	1.61788e-16	0.012213	1.81094e-16	29	22				
PRKDC	5591	broad.mit.edu	37	8	48694764	48694764	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:48694764A>G	uc003xqi.2	-	81	11505	c.11448T>C	c.(11446-11448)CTT>CTC	p.L3816L	PRKDC_uc003xqj.2_Intron|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3816	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGTGTTCAAAAGAAGGTCCT	0.502		NaN						NHEJ					0	0	0	0.004482	0	8	50				
SLCO5A1	81796	broad.mit.edu	37	8	70744123	70744123	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:70744123G>T	uc003xyl.2	-	2	1493	c.786C>A	c.(784-786)GTC>GTA	p.V262V	SLCO5A1_uc010lzb.2_Silent_p.V262V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.V262V|SLCO5A1_uc010lzc.2_Silent_p.V262V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	262	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGCCACGTAGACCCAGTGAT	0.542		NaN											1	0	1.05386e-31	0.00361	1.23568e-31	40	16				
TRPA1	8989	broad.mit.edu	37	8	72981302	72981302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:72981302G>A	uc003xza.2	-	3	575	c.400C>T	c.(400-402)CCT>TCT	p.P134S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	134	Cytoplasmic (Potential).|ANK 3.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ATGTGGAGAGGAGCCATCATG	0.512		NaN											0	0	0	0.00361	0	110	190				
ZFHX4	79776	broad.mit.edu	37	8	77765656	77765656	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:77765656G>T	uc003yav.2	+	10	6751	c.6364G>T	c.(6364-6366)GGC>TGC	p.G2122C	ZFHX4_uc003yau.1_Missense_Mutation_p.G2167C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2122C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2122	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGAAATCTGGCCTCTCCCA	0.368		NaN								HNSCC(33;0.089)			1	0	4.96729e-08	0.008871	5.20979e-08	19	17				
RUNX1T1	862	broad.mit.edu	37	8	93004034	93004034	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:93004034C>A	uc003yfd.2	-	6	908	c.824G>T	c.(823-825)CGG>CTG	p.R275L	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R248L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R238L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R248L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R286L|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R238L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	275					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGACTGTACCGCTGGCCTGG	0.512		NaN											1	0	4.87955e-14	0.005443	5.37154e-14	22	23				
PKHD1L1	93035	broad.mit.edu	37	8	110410761	110410761	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:110410761C>G	uc003yne.2	+	12	1100	c.996C>G	c.(994-996)CTC>CTG	p.L332L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	332	Extracellular (Potential).|IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATATTCTCAAAACTGTAT	0.294		NaN								HNSCC(38;0.096)			0	0	0	0.00308	0	5	12				
CSMD3	114788	broad.mit.edu	37	8	113299303	113299303	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:113299303T>C	uc003ynu.2	-	58	9480	c.9321A>G	c.(9319-9321)CCA>CCG	p.P3107P	CSMD3_uc003yns.2_Silent_p.P2309P|CSMD3_uc003ynt.2_Silent_p.P3067P|CSMD3_uc011lhx.1_Silent_p.P2938P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3107	Extracellular (Potential).|Sushi 22.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTTGCACTCTGGCTGCCTTC	0.378		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.00308	0	6	133				
KCNK9	51305	broad.mit.edu	37	8	140715046	140715046	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:140715046G>A	uc003yvf.1	-	1	254	c.190C>T	c.(190-192)CTG>TTG	p.L64L	KCNK9_uc003yvg.1_Silent_p.L64L	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	64	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGGATCACCAGCTCCAGCTGC	0.597		NaN											0	0	0	0.00333	0	21	27				
CHRAC1	54108	broad.mit.edu	37	8	141524510	141524510	+	Missense_Mutation	SNP	G	G	T	rs143839289		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:141524510G>T	uc003yvl.2	+	2	388	c.190G>T	c.(190-192)GGC>TGC	p.G64C	CHRAC1_uc010mem.1_Intron	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	64					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(1)	1	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CTACAGACACGGCAGTGGAAA	0.383		NaN											1	0	7.41945e-09	0.005443	7.8186e-09	19	11				
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:142441037G>T	uc003ywg.1	+	5	749	c.415G>T	c.(415-417)GGA>TGA	p.G139*	PTP4A3_uc003ywh.1_Nonsense_Mutation_p.G114*|PTP4A3_uc010met.1_Silent_p.A52A	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	139	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597		NaN											1	0	1.96292e-10	0.010504	2.10516e-10	17	23				
PPP1R16A	84988	broad.mit.edu	37	8	145727093	145727093	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:145727093C>T	uc003zdd.2	+	11	2307	c.1394C>T	c.(1393-1395)GCT>GTT	p.A465V	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A465V|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	465						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCGAGCTGCTGCCAAGCTG	0.692		NaN											0	0	0	0.001984	0	5	7				
MPDZ	8777	broad.mit.edu	37	9	13107098	13107098	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:13107098C>T	uc010mhy.2	-	45	6043	c.5992G>A	c.(5992-5994)GAA>AAA	p.E1998K	MPDZ_uc003zkx.3_Missense_Mutation_p.E222K|MPDZ_uc003zky.3_Missense_Mutation_p.E561K|MPDZ_uc010mib.2_Missense_Mutation_p.E732K|MPDZ_uc010mhx.2_Missense_Mutation_p.E849K|MPDZ_uc011lmm.1_Missense_Mutation_p.E886K|MPDZ_uc003zkz.3_Missense_Mutation_p.E720K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1994K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1965K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1998K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2027	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCCGTCTTCAGAGGCTGCT	0.433		NaN											0	0	0	0.003954	0	21	90				
CER1	9350	broad.mit.edu	37	9	14720287	14720287	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:14720287G>T	uc003zlj.2	-	2	650	c.605C>A	c.(604-606)TCC>TAC	p.S202Y		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	202	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		GGAGGTATGGGAGTGCTGCGC	0.502		NaN											1	0	1.80694e-10	0.009535	1.94101e-10	25	98				
TOPORS	10210	broad.mit.edu	37	9	32544067	32544067	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:32544067C>T	uc003zrb.2	-	3	623	c.456G>A	c.(454-456)GTG>GTA	p.V152V	TOPORS_uc003zrc.2_Silent_p.V85V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	152	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTCTGCCCTCACAGAATGGA	0.428		NaN											0	0	0	0.00333	0	22	72				
DNAI1	27019	broad.mit.edu	37	9	34514538	34514538	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:34514538C>G	uc003zum.2	+	17	1909	c.1716C>G	c.(1714-1716)ATC>ATG	p.I572M		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	572	WD 3.				cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACCACACCATCAAGTGAGGGG	0.597		NaN							Kartagener_syndrome				0	0	0	0.00361	0	56	42				
PIGO	84720	broad.mit.edu	37	9	35090170	35090170	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35090170C>G	uc003zwd.2	-	9	3358	c.2962G>C	c.(2962-2964)GAG>CAG	p.E988Q	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.E571Q|PIGO_uc003zwf.2_Missense_Mutation_p.E571Q|PIGO_uc003zwg.1_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	988					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTCTTCCTCCTCGGGTCTG	0.597		NaN											0	0	0	0.001368	0	13	53				
NPR2	4882	broad.mit.edu	37	9	35792645	35792645	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35792645A>G	uc003zyd.2	+	1	240	c.240A>G	c.(238-240)GCA>GCG	p.A80A	NPR2_uc010mlb.2_Silent_p.A80A	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	80	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGTACCTGGCACCGCTGAGCG	0.657		NaN											0	0	0	0.008871	0	16	105				
FRMPD1	22844	broad.mit.edu	37	9	37745551	37745551	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:37745551A>T	uc004aag.1	+	16	3566	c.3522A>T	c.(3520-3522)CCA>CCT	p.P1174P	FRMPD1_uc004aah.1_Silent_p.P1174P	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1174						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		AGCAGATCCCACCACATCCCC	0.478		NaN											0	0	0	0.001168	0	6	25				
FAM75A6	389730	broad.mit.edu	37	9	43627203	43627203	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:43627203G>T	uc011lrb.1	-	4	1513	c.1484C>A	c.(1483-1485)GCT>GAT	p.A495D		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	495						integral to membrane					0						ATGGGCCTGAGCCTCGGCCTG	0.542		NaN											1	0	1.06012e-137	0.00361	1.27214e-137	277	449				
PTAR1	375743	broad.mit.edu	37	9	72333393	72333393	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:72333393C>A	uc004ahj.3	-	8	1096	c.1074G>T	c.(1072-1074)CGG>CGT	p.R358R	PTAR1_uc004ahi.2_Silent_p.R306R	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	358					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						GAACTGGCGTCCGCTTCAGGC	0.522		NaN											1	0	2.39556e-15	0.00278	2.65908e-15	19	20				
GNA14	9630	broad.mit.edu	37	9	80043925	80043925	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:80043925C>T	uc004aku.2	-	5	1144	c.621G>A	c.(619-621)TCG>TCA	p.S207S		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	207					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCCGTCTTTCCGATCGTTGGC	0.453		NaN											0	0	0	0.00361	0	112	71				
TLE1	7088	broad.mit.edu	37	9	84230944	84230944	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:84230944C>T	uc004aly.2	-	11	1312	c.871G>A	c.(871-873)GCC>ACC	p.A291T	TLE1_uc004alz.2_Missense_Mutation_p.A301T|TLE1_uc011lsr.1_Missense_Mutation_p.A291T|TLE1_uc004ama.1_Missense_Mutation_p.A291T|TLE1_uc011lss.1_Missense_Mutation_p.A217T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	291	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GCCGAGGAGGCCGTGGAAGCT	0.488		NaN											0	0	0	0.004289	0	32	16				
KIF27	55582	broad.mit.edu	37	9	86518142	86518142	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:86518142G>A	uc004ana.2	-	4	1435	c.1291C>T	c.(1291-1293)CTA>TTA	p.L431L	KIF27_uc010mpw.2_Silent_p.L431L|KIF27_uc010mpx.2_Silent_p.L431L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	431					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TTTTCGTTTAGTCTGACAGTA	0.473		NaN											0	0	0	0.001368	0	10	21				
DAPK1	1612	broad.mit.edu	37	9	90266558	90266558	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90266558C>T	uc004apc.2	+	17	1881	c.1743C>T	c.(1741-1743)CTC>CTT	p.L581L	DAPK1_uc004apd.2_Silent_p.L581L|DAPK1_uc011ltg.1_Silent_p.L581L|DAPK1_uc011lth.1_Silent_p.L318L|DAPK1_uc004apf.1_Silent_p.L135L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	581	ANK 7.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						ATACTCCCCTCCATGTGGCAT	0.493		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	0.000602	0	4	66				
FAM75C1	441452	broad.mit.edu	37	9	90536698	90536698	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90536698G>A	uc010mqi.2	+	4	1905	c.1876G>A	c.(1876-1878)GCA>ACA	p.A626T	FAM75C1_uc004apq.3_Missense_Mutation_p.A609T	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						CAGCAATCTAGCAGCCCCGAA	0.537		NaN											0	0	0	0.002836	0	29	62				
NCBP1	4686	broad.mit.edu	37	9	100433475	100433475	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:100433475G>A	uc004axq.2	+	23	2826	c.2367G>A	c.(2365-2367)CAG>CAA	p.Q789Q		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	789					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				GTGCCCTGCAGGCCTAAGGGT	0.393		NaN											0	0	0	0.010729	0	10	26				
FKBP15	23307	broad.mit.edu	37	9	115931551	115931551	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:115931551T>A	uc004bgs.2	-	26	3556	c.3438A>T	c.(3436-3438)ACA>ACT	p.T1146T	FKBP15_uc004bgr.2_Silent_p.T583T|FKBP15_uc011lxc.1_Silent_p.T727T|FKBP15_uc011lxd.1_Silent_p.T1078T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1146					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CTCCTGCAACTGTGGAACCTG	0.562		NaN											0	0	0	0.003163	0	11	32				
RPL35	11224	broad.mit.edu	37	9	127623766	127623766	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:127623766C>T	uc004boy.1	-	2	121	c.72G>A	c.(70-72)CTG>CTA	p.L24L	ARPC5L_uc004boz.1_5'Flank	NM_007209	NP_009140	P42766	RL35_HUMAN	ribosomal protein L35	24					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			ovary(1)	1				GBM - Glioblastoma multiforme(294;0.182)		GCTCCACCTTCAGGTCGTCCA	0.612		NaN											0	0	0	0.00361	0	44	10				
BARHL1	56751	broad.mit.edu	37	9	135458598	135458598	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:135458598A>G	uc004cbp.1	+	1	606	c.414A>G	c.(412-414)AGA>AGG	p.R138R		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	138						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGGACTTTAGAGACAAGCTGG	0.582		NaN											0	0	0	0.004007	0	15	2				
COL5A1	1289	broad.mit.edu	37	9	137687131	137687131	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:137687131C>G	uc004cfe.2	+	34	3151	c.2769C>G	c.(2767-2769)CCC>CCG	p.P923P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	923	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAAGAGGCCCCCGGGGCATCA	0.632		NaN											0	0	0	0.003163	0	12	63				
KCNT1	57582	broad.mit.edu	37	9	138675901	138675901	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:138675901T>A	uc011mdq.1	+	25	2947	c.2873T>A	c.(2872-2874)TTC>TAC	p.F958Y	KCNT1_uc011mdr.1_Missense_Mutation_p.F785Y|KCNT1_uc010nbf.2_Missense_Mutation_p.F913Y|KCNT1_uc004cgo.1_Missense_Mutation_p.F707Y	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	958						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCTGGCCTTCATGTTCCGC	0.662		NaN											0	0	0	0.00361	0	67	23				
SFRS17A	8227	broad.mit.edu	37	X	1719725	1719725	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:1719725G>T	uc004cqa.2	+	5	1522	c.1326G>T	c.(1324-1326)CTG>CTT	p.L442L	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	442	PKA-RI-alpha subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAGCATCCTGCTGAGCAAGA	0.692		NaN											1	0	3.86212e-05	0.008291	3.96328e-05	5	8				
ZBED1	9189	broad.mit.edu	37	X	2407722	2407722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:2407722C>T	uc004cqg.2	-	2	1240	c.1039G>A	c.(1039-1041)GTG>ATG	p.V347M	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.V347M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	347						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTTGCTCACCAGCATGCAG	0.617		NaN											0	0	0	0.012319	0	20	13				
CLCN4	1183	broad.mit.edu	37	X	10155598	10155598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:10155598G>T	uc004csy.3	+	4	618	c.188G>T	c.(187-189)AGC>ATC	p.S63I	CLCN4_uc011mid.1_Intron	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	63	Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTCATCAAGAGCCTGCTGGAT	0.542		NaN											1	0	8.60899e-122	0.00361	1.03122e-121	184	8				
NHS	4810	broad.mit.edu	37	X	17739625	17739625	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:17739625A>G	uc004cxx.2	+	4	1255	c.917A>G	c.(916-918)CAC>CGC	p.H306R	NHS_uc011mix.1_Missense_Mutation_p.H327R|NHS_uc004cxy.2_Missense_Mutation_p.H150R|NHS_uc004cxz.2_Missense_Mutation_p.H129R|NHS_uc004cya.2_Missense_Mutation_p.H29R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	306						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AACCCAATACACAATATCCCT	0.483		NaN											0	0	0	0.00361	0	67	2				
PTCHD1	139411	broad.mit.edu	37	X	23411277	23411277	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:23411277T>A	uc004dal.3	+	3	1650	c.1642T>A	c.(1642-1644)TAC>AAC	p.Y548N		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	548					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CCAGCAAAAGTACTTCAGCAA	0.433		NaN											0	0	0	0.00278	0	18	59				
MAGEB2	4113	broad.mit.edu	37	X	30237164	30237164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:30237164C>G	uc004dbz.2	+	2	570	c.467C>G	c.(466-468)GCC>GGC	p.A156G		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	156	MAGE.						protein binding			ovary(1)	1						CTCAAGAAAGCCTCTGAGGGC	0.448		NaN											0	0	0	0.006214	0	8	0				
CASK	8573	broad.mit.edu	37	X	41437603	41437603	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:41437603T>C	uc004dfl.3	-	15	1539	c.1493A>G	c.(1492-1494)GAT>GGT	p.D498G	CASK_uc004dfj.3_Missense_Mutation_p.D61G|CASK_uc004dfk.3_Missense_Mutation_p.D313G|CASK_uc004dfm.3_Missense_Mutation_p.D498G|CASK_uc004dfn.3_Missense_Mutation_p.D492G	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	498	PDZ.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						CATTGGTTCATCTGTGTTCTT	0.413		NaN											0	0	0	0.009718	0	36	0				
RRAGB	10325	broad.mit.edu	37	X	55777615	55777615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:55777615G>T	uc004dup.2	+	7	1333	c.682G>T	c.(682-684)GAA>TAA	p.E228*	RRAGB_uc004duq.2_Nonsense_Mutation_p.E200*	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	228					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						TATCTGGGATGAAACCCTCTA	0.363		NaN											1	0	2.54575e-18	0.010504	2.88345e-18	14	0				
OPHN1	4983	broad.mit.edu	37	X	67431998	67431998	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:67431998T>C	uc004dww.3	-	8	948	c.654A>G	c.(652-654)ACA>ACG	p.T218T	OPHN1_uc011mpg.1_Silent_p.T218T|OPHN1_uc004dwx.2_Silent_p.T218T	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	218					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						GGAAATCCTGTGTGAGCTCCA	0.403		NaN											0	0	0	0.007413	0	13	1				
ACRC	93953	broad.mit.edu	37	X	70823918	70823918	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:70823918C>T	uc004eae.2	+	8	1292	c.791C>T	c.(790-792)GCT>GTT	p.A264V	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	264	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GATTCGGAAGCTCCCGACGAC	0.557		NaN											0	0	0	0.008291	0	3	39				
ZMAT1	84460	broad.mit.edu	37	X	101153125	101153125	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:101153125A>T	uc011mrl.1	-	4	608	c.297T>A	c.(295-297)GGT>GGA	p.G99G	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 1	Error:Variant_position_missing_in_A7MD47_after_alignment						nucleus	zinc ion binding			ovary(1)	1						TCATTTTCTTACCAGGCACTT	0.313		NaN											0	0	0	0.008361	0	22	0				
PLS3	5358	broad.mit.edu	37	X	114871237	114871237	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:114871237C>G	uc004eqd.2	+	8	1228	c.838C>G	c.(838-840)CAT>GAT	p.H280D	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.H258D|PLS3_uc004eqe.2_Missense_Mutation_p.H280D|PLS3_uc011mtg.1_Missense_Mutation_p.H253D|PLS3_uc011mth.1_Missense_Mutation_p.H235D	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	280	CH 2.|Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						GGCAAACTTTCATTTGGAAAA	0.408		NaN											0	0	0	0.002299	0	17	43				
UBE2A	7319	broad.mit.edu	37	X	118708895	118708895	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:118708895G>A	uc004erl.2	+	2	252	c.76G>A	c.(76-78)GGG>AGG	p.G26R	UBE2A_uc004erm.2_Missense_Mutation_p.G26R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	26					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						CGGAGTCAGCGGGGCTCCGTC	0.657		NaN						Direct_reversal_of_damage|Rad6_pathway					0	0	0	0.00361	0	61	3				
ENOX2	10495	broad.mit.edu	37	X	129801714	129801714	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:129801714C>A	uc004evw.2	-	9	1202	c.784G>T	c.(784-786)GAT>TAT	p.D262Y	ENOX2_uc004evx.2_Missense_Mutation_p.D233Y|ENOX2_uc004evy.2_Missense_Mutation_p.D233Y|ENOX2_uc004evv.2_Missense_Mutation_p.D89Y	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	262					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						AATTTGGAATCATCTGAAAAA	0.403		NaN											1	0	5.9392e-07	0.001168	6.18048e-07	5	10				
IGSF1	3547	broad.mit.edu	37	X	130409559	130409559	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:130409559G>A	uc004ewd.2	-	16	3315	c.3077C>T	c.(3076-3078)ACC>ATC	p.T1026I	IGSF1_uc004ewe.3_Missense_Mutation_p.T1020I|IGSF1_uc004ewf.2_Missense_Mutation_p.T1006I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1026	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						AGATATATTGGTGATGGGGAA	0.517		NaN											0	0	0	0.00361	0	89	2				
MAGEC1	9947	broad.mit.edu	37	X	140994913	140994913	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:140994913C>A	uc004fbt.2	+	4	2009	c.1723C>A	c.(1723-1725)CTG>ATG	p.L575M	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTCCCTGTCTCCTCA	0.597		NaN								HNSCC(15;0.026)			1	0	3.09899e-07	0.004482	3.23499e-07	6	301				
ATP2B3	492	broad.mit.edu	37	X	152807362	152807362	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:152807362G>A	uc004fht.1	+	3	768	c.642G>A	c.(640-642)GGG>GGA	p.G214G	ATP2B3_uc004fhs.1_Silent_p.G214G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	214	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGGGGGACATTGCCC	0.637		NaN											0	0	0	0.00361	0	59	9				
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:145457040_145457042delTCT	uc001enp.1	-	7	626_628	c.519_521delAGA	c.(517-522)GAAGAG>GAG	p.173_174EE>E	NBPF10_uc001emp.3_Intron	NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	173_174	Glu-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.286		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
CEP350	9857	broad.mit.edu	37	1	180053254	180053254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:180053254delA	uc001gnt.2	+	31	6609	c.6226delA	c.(6226-6228)AAAfs	p.K2076fs	CEP350_uc009wxl.2_Frame_Shift_Del_p.K2075fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.K211fs|CEP350_uc001gnw.1_5'Flank	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2076	Potential.					centrosome|nucleus|spindle				ovary(4)	4						GAAGGAACAGAAAAAAAGGCA	0.423		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
OR6F1	343169	broad.mit.edu	37	1	247875413	247875414	+	Frame_Shift_Del	DEL	AA	AA	-	rs147403383		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875413_247875414delAA	uc001idj.1	-	1	644_645	c.644_645delTT	c.(643-645)TTTfs	p.F215fs		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	215	Helical; Name=5; (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;0.0168)			CATAGGAGACAAAGGTGATGAG	0.559		NaN											NaN	NaN	NaN	NaN	NaN	136	96	---		---	---
ATG2A	23130	broad.mit.edu	37	11	64679559	64679560	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64679559_64679560delGT	uc001obx.2	-	8	1199_1200	c.1084_1085delAC	c.(1084-1086)ACTfs	p.T362fs		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	362							protein binding			ovary(1)|central_nervous_system(1)	2						ACACCCACCAGTGTTATCCAGG	0.639		NaN											NaN	NaN	NaN	NaN	NaN	17	99	---		---	---
USP28	57646	broad.mit.edu	37	11	113694349	113694350	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:113694349_113694350delTT	uc001poh.2	-	12	1293_1294	c.1260_1261delAA	c.(1258-1263)AAAATTfs	p.K420fs	USP28_uc001pog.2_Frame_Shift_Del_p.K128fs|USP28_uc010rwy.1_Frame_Shift_Del_p.K295fs|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Frame_Shift_Del_p.K420fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	420_421					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCTGCAGAATTTTTATTTCCT	0.302		NaN											NaN	NaN	NaN	NaN	NaN	25	29	---		---	---
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	uc001sat.2	-	1	356_357	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)TTC>TTTGGAGGTGGCAGCGGCTTC	p.108_108F>FGGGSGF		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.069		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
BAZ1A	11177	broad.mit.edu	37	14	35240754	35240755	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:35240754_35240755delCT	uc001wsk.2	-	21	3831_3832	c.3263_3264delAG	c.(3262-3264)GAGfs	p.E1088fs	BAZ1A_uc001wsl.2_Frame_Shift_Del_p.E1056fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1088					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAATGCCCTGCTCTATTTGAAA	0.366		NaN											NaN	NaN	NaN	NaN	NaN	49	166	---		---	---
CSPG4	1464	broad.mit.edu	37	15	75981450	75981450	+	Frame_Shift_Del	DEL	G	G	-	rs141434179	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75981450delG	uc002baw.2	-	3	2049	c.1956delC	c.(1954-1956)GCCfs	p.A652fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	652	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCTTCAGCGTGGCCGGGGGGC	0.672		NaN											NaN	NaN	NaN	NaN	NaN	63	27	---		---	---
IL32	9235	broad.mit.edu	37	16	3117416	3117416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:3117416delG	uc002cto.2	+	3	265	c.54delG	c.(52-54)ATGfs	p.M18fs	IL32_uc002ctk.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwp.1_Frame_Shift_Del_p.M18fs|IL32_uc010btb.2_Frame_Shift_Del_p.M8fs|IL32_uc002ctl.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctm.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctn.2_Frame_Shift_Del_p.M18fs|IL32_uc010btc.1_Frame_Shift_Del_p.M18fs|IL32_uc002cts.3_Frame_Shift_Del_p.M18fs|IL32_uc002ctp.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwq.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctq.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctr.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctt.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwr.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctu.2_Frame_Shift_Del_p.M18fs	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	18					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						AGGCCCGAATGGTAATGCTCC	0.552		NaN											NaN	NaN	NaN	NaN	NaN	31	61	---		---	---
KAT2A	2648	broad.mit.edu	37	17	40269467	40269468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40269467_40269468insA	uc002hyx.2	-	10	1635_1636	c.1575_1576insT	c.(1573-1578)AATGTCfs	p.N525fs		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	525_526	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						TGGGAAAAGACATTCTGCAGCC	0.644		NaN											NaN	NaN	NaN	NaN	NaN	13	58	---		---	---
ZNF260	339324	broad.mit.edu	37	19	37005871	37005871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:37005871delT	uc002oee.1	-	4	1114	c.270delA	c.(268-270)AAAfs	p.K90fs	ZNF260_uc002oed.1_Frame_Shift_Del_p.K87fs|ZNF260_uc010eey.1_Frame_Shift_Del_p.K87fs|ZNF260_uc002oef.1_Frame_Shift_Del_p.K87fs	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	90	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GGCTGAAGGCTTTTCCACATT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	34	7	---		---	---
PDE9A	5152	broad.mit.edu	37	21	44108087	44108088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:44108087_44108088insC	uc002zbm.2	+	3	264_265	c.201_202insC	c.(199-204)ATGCCCfs	p.M67fs	PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Frame_Shift_Ins_p.A44fs|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Translation_Start_Site|PDE9A_uc002zca.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Translation_Start_Site|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	67_68					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						ACCCCACCATGCCCGCGAATTC	0.574		NaN											NaN	NaN	NaN	NaN	NaN	50	7	---		---	---
FAT1	2195	broad.mit.edu	37	4	187541806	187541807	+	Frame_Shift_Ins	INS	-	-	TTTAGGTGACT			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:187541806_187541807insTTTAGGTGACT	uc003izf.2	-	10	6121_6122	c.5933_5934insAGTCACCTAAA	c.(5932-5934)AAGfs	p.K1978fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1978	Extracellular (Potential).|Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTGGGTAAACTTTAGGTGACT	0.45		NaN								HNSCC(5;0.00058)			NaN	NaN	NaN	NaN	NaN	10	231	---		---	---
TRDN	10345	broad.mit.edu	37	6	123892184	123892185	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123892184_123892185delTC	uc003pzj.1	-	2	137_138	c.115_116delGA	c.(115-117)GACfs	p.D39fs	TRDN_uc003pzk.1_Frame_Shift_Del_p.D39fs|TRDN_uc003pzl.1_Frame_Shift_Del_p.D39fs|TRDN_uc010ken.2_Frame_Shift_Del_p.D39fs|TRDN_uc010keo.1_Frame_Shift_Del_p.D39fs	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	39	Cytoplasmic.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		CGTCACTATGTCTTCTGTGACT	0.47		NaN											NaN	NaN	NaN	NaN	NaN	29	27	---		---	---
ODZ1	10178	broad.mit.edu	37	X	123518470	123518496	+	In_Frame_Del	DEL	TTCATCACTGTAGTAGTTATGACCTGA	TTCATCACTGTAGTAGTTATGACCTGA	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA	uc004euj.2	-	29	6328_6354	c.6264_6290delTCAGGTCATAACTACTACAGTGATGAA	c.(6262-6291)AATCAGGTCATAACTACTACAGTGATGAAA>AAA	p.NQVITTTVM2088del	ODZ1_uc011muj.1_In_Frame_Del_p.NQVITTTVM2094del|ODZ1_uc010nqy.2_In_Frame_Del_p.NQVITTTVM2095del	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2088_2096	YD 15.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTTGGTGTGTTTCATCACTGTAGTAGTTATGACCTGATTTAAATCGT	0.366		NaN											NaN	NaN	NaN	NaN	NaN	8	76	---		---	---
