Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
ERRFI1	54206	broad.mit.edu	37	1	8074054	8074054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:8074054C>T	uc001aoz.2	-	4	854	c.605G>A	c.(604-606)CGT>CAT	p.R202H	ERRFI1_uc001apa.1_Missense_Mutation_p.R127H	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	202					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACACCCACGGAAGCTTCG	0.443		NA											7	38					0	0	0	0
CA6	765	broad.mit.edu	37	1	9022705	9022705	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:9022705C>T	uc001apm.2	+	5	585	c.561C>T	c.(559-561)ATC>ATT	p.I187I	CA6_uc009vmn.2_Silent_p.I127I	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	187					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAACATCAAGTACCCAG	0.507		NA											12	66					0	0	0	0
VPS13D	55187	broad.mit.edu	37	1	12416557	12416557	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:12416557A>G	uc001atv.2	+	49	10115	c.9974A>G	c.(9973-9975)TAT>TGT	p.Y3325C	VPS13D_uc001atw.2_Missense_Mutation_p.Y3300C|VPS13D_uc001atx.2_Missense_Mutation_p.Y2512C	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3324					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATTCTGCTATGCTGACAAA	0.468		NA											22	77					0	0	0	0
DHDDS	79947	broad.mit.edu	37	1	26769228	26769228	+	Missense_Mutation	SNP	C	C	T	rs148606976		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:26769228C>T	uc001bml.2	+	4	308	c.187C>T	c.(187-189)CGG>TGG	p.R63W	DHDDS_uc001bmk.2_Missense_Mutation_p.R63W|DHDDS_uc001bmm.2_5'UTR|DHDDS_uc001bmn.2_Missense_Mutation_p.R63W|DHDDS_uc010ofd.1_Missense_Mutation_p.R63W	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	63							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGACTCTGCGGTGGTGTTT	0.493		NA											46	119					0	0	0	0
PHC2	1912	broad.mit.edu	37	1	33795788	33795788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:33795788C>T	uc001bxg.1	-	12	2083	c.2029G>A	c.(2029-2031)GTG>ATG	p.V677M	PHC2_uc001bxh.1_Missense_Mutation_p.V649M|PHC2_uc009vuh.1_Missense_Mutation_p.V678M|PHC2_uc001bxe.1_Missense_Mutation_p.V142M|PHC2_uc001bxf.1_Missense_Mutation_p.V92M	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	677					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAAGTCCCACCCGTTTGGTG	0.582		NA											7	61					0	0	0	0
GFI1	2672	broad.mit.edu	37	1	92948573	92948573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:92948573G>A	uc001dou.3	-	3	310	c.146C>T	c.(145-147)GCG>GTG	p.A49V	GFI1_uc001dov.3_Missense_Mutation_p.A49V|GFI1_uc001dow.3_Missense_Mutation_p.A49V	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	49					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCGGGGCTCCGCCTTCGCCCC	0.662		NA											12	54					0	0	0	0
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:144828704T>G	uc009wig.1	+	23	2825	c.2749T>G	c.(2749-2751)TAC>GAC	p.Y917D	NBPF9_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF9_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF9_uc010oxr.1_Missense_Mutation_p.Y944D|NBPF9_uc010oxt.1_Missense_Mutation_p.Y732D|NBPF9_uc001ekg.1_Missense_Mutation_p.Y244D|NBPF9_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|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|NBPF9_uc001elp.2_Missense_Mutation_p.Y577D|uc001elr.3_5'Flank	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	917	NBPF 7.					cytoplasm					0						CTTCGCCCTTTACGTGGACAA	0.438		NA											7	296					0	0	0	0
TCHH	7062	broad.mit.edu	37	1	152083257	152083257	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152083257C>T	uc001ezp.2	-	2	2436	c.2436G>A	c.(2434-2436)CCG>CCA	p.P812P	TCHH_uc009wne.1_Silent_p.P812P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	812					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCCGGGAGAAACC	0.701		NA											7	65					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152279952	152279952	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152279952A>T	uc001ezu.1	-	3	7446	c.7410T>A	c.(7408-7410)AGT>AGA	p.S2470R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2470	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTTCCTCCACTGCTTGACC	0.567		NA							Ichthyosis				36	581					0	0	0	0
ADAM15	8751	broad.mit.edu	37	1	155029698	155029698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:155029698C>T	uc001fgr.1	+	12	1284	c.1183C>T	c.(1183-1185)CGA>TGA	p.R395*	ADAM15_uc001fgq.1_Nonsense_Mutation_p.R80*|ADAM15_uc010pet.1_Nonsense_Mutation_p.R379*|ADAM15_uc010peu.1_Nonsense_Mutation_p.R412*|ADAM15_uc001fgt.1_Nonsense_Mutation_p.R395*|ADAM15_uc010pev.1_Nonsense_Mutation_p.R405*|ADAM15_uc001fgs.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgu.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgw.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgv.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgx.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	395	Peptidase M12B.|Extracellular (Potential).				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)			CAACTGCAGCCGACGGGCCCT	0.632		NA											8	40					0	0	0	0
PMF1	11243	broad.mit.edu	37	1	156206091	156206091	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:156206091G>T	uc001fnq.2	+	4	404	c.381G>T	c.(379-381)GGG>GGT	p.G127G	PMF1_uc001fnr.2_Intron|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	127					cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					GCCCCAGCGGGATCCCAGAGA	0.617		NA											9	110					1.77e-08	2.29e-08	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953756	161953756	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:161953756C>T	uc001gbu.2	-	8	2386	c.1962G>A	c.(1960-1962)GCG>GCA	p.A654A	OLFML2B_uc001gbt.2_Silent_p.A137A|OLFML2B_uc010pkq.1_Silent_p.A655A	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	654	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTCAGGTCCGCGGCATTGA	0.582		NA											13	71					0	0	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394760	204394760	+	Missense_Mutation	SNP	T	T	A	rs143735929		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:204394760T>A	uc001haw.2	-	33	5176	c.4697A>T	c.(4696-4698)AAT>ATT	p.N1566I	PIK3C2B_uc010pqv.1_Missense_Mutation_p.N1538I	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1566	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTAGGTAGGATTGCAGGTTTT	0.498		NA											11	59					0	0	0	0
TMCC2	9911	broad.mit.edu	37	1	205238928	205238928	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205238928T>C	uc001hbz.1	+	4	2042	c.1598T>C	c.(1597-1599)CTG>CCG	p.L533P	TMCC2_uc010prf.1_Missense_Mutation_p.L455P|TMCC2_uc001hca.2_Missense_Mutation_p.L308P|TMCC2_uc001hcb.1_Missense_Mutation_p.L293P|TMCC2_uc001hcc.1_Missense_Mutation_p.L154P|TMCC2_uc001hcd.2_Missense_Mutation_p.L300P	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	533	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTCACCTGGAGGACTCC	0.587		NA											3	144					0	0	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899105	205899105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205899105G>T	uc001hdq.2	-	6	746	c.632C>A	c.(631-633)GCC>GAC	p.A211D	SLC26A9_uc001hdo.2_5'Flank|SLC26A9_uc001hdp.2_Missense_Mutation_p.A211D	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	211	Helical; (Potential).					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGCAGGCCGGCGGCCGTCAT	0.577		NA											9	47					1.13e-05	1.44e-05	1	0
IRF6	3664	broad.mit.edu	37	1	209969692	209969692	+	Splice_Site	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:209969692C>G	uc001hhq.1	-	4	642	c.379_splice	c.e4+1	p.G127_splice	IRF6_uc010psm.1_Splice_Site_p.G32_splice|IRF6_uc009xct.1_Splice_Site_p.G127_splice	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCCTCACCTGGGTTAAT	0.512		NA								HNSCC(57;0.16)			6	53					0	0	0	0
VASH2	79805	broad.mit.edu	37	1	213146032	213146032	+	Missense_Mutation	SNP	G	G	A	rs150945050		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:213146032G>A	uc001hjy.2	+	5	812	c.608G>A	c.(607-609)CGC>CAC	p.R203H	VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.R138H|VASH2_uc010ptn.1_Missense_Mutation_p.R99H|VASH2_uc001hjw.2_Missense_Mutation_p.R159H	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	vasohibin 2 isoform 3	203					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm					0				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGCAATGGCCGCTATGGCTCA	0.502		NA											10	82					0	0	0	0
MARK1	4139	broad.mit.edu	37	1	220824023	220824023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:220824023C>T	uc001hmn.3	+	14	2129	c.1532C>T	c.(1531-1533)ACA>ATA	p.T511I	MARK1_uc009xdw.2_Missense_Mutation_p.T511I|MARK1_uc010pun.1_Missense_Mutation_p.T511I|MARK1_uc001hmm.3_Missense_Mutation_p.T489I	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	511					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		GAAAGGACCACAGATCGATAC	0.378		NA											14	101					0	0	0	0
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230841942C>T	uc001hty.3	-	3	1369	c.861G>A	c.(859-861)AAG>AAA	p.K287K	AGT_uc009xfe.2_Silent_p.K287K|AGT_uc009xff.2_Silent_p.K259K	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607		NA											6	39					0	0	0	0
AGT	183	broad.mit.edu	37	1	230846071	230846071	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230846071C>T	uc001hty.3	-	2	1034	c.526G>A	c.(526-528)GAT>AAT	p.D176N	AGT_uc009xfe.2_Missense_Mutation_p.D176N|AGT_uc009xff.2_Missense_Mutation_p.D148N	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TTGTGCGCATCCAGCCGGGAG	0.627		NA											8	66					0	0	0	0
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:244579342G>A	uc001iaj.2	-	11	1403	c.1109C>T	c.(1108-1110)ACG>ATG	p.T370M		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338		NA											3	31					0	0	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014644	247014644	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:247014644T>A	uc001ibu.1	-	32	4671	c.4664A>T	c.(4663-4665)TAC>TTC	p.Y1555F	AHCTF1_uc001ibv.1_Missense_Mutation_p.Y1564F|AHCTF1_uc009xgs.1_Missense_Mutation_p.Y416F|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1555	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCAAAATTGTACTGAAGCTT	0.378		NA											10	74					0	0	0	0
BMI1	648	broad.mit.edu	37	10	22606902	22606902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:22606902C>T	uc009xkg.2	+	2	277	c.229C>T	c.(229-231)CGA>TGA	p.R77*	COMMD3_uc001ire.2_Nonsense_Mutation_p.R77*|COMMD3_uc001irf.2_Nonsense_Mutation_p.R77*|COMMD3_uc001irg.2_RNA	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	Error:Variant_position_missing_in_P35226_after_alignment					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						AGGAAAGCACCGAGCTGACAA	0.338		NA											7	65					0	0	0	0
HK1	3098	broad.mit.edu	37	10	71142523	71142523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:71142523G>A	uc001jpl.3	+	10	1647	c.1546G>A	c.(1546-1548)GTC>ATC	p.V516I	HK1_uc001jpg.3_Missense_Mutation_p.V504I|HK1_uc001jph.3_Missense_Mutation_p.V520I|HK1_uc001jpi.3_Missense_Mutation_p.V520I|HK1_uc001jpj.3_Missense_Mutation_p.V551I|HK1_uc001jpk.3_Missense_Mutation_p.V515I|HK1_uc009xqd.2_Missense_Mutation_p.V394I	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	516	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GCCCTCCTTCGTCCGGAGAAC	0.632		NA											9	47					0	0	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489916	72489916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:72489916G>A	uc001jrh.2	+	6	1013	c.1013G>A	c.(1012-1014)TGG>TAG	p.W338*	ADAMTS14_uc001jrg.2_Nonsense_Mutation_p.W338*	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	338	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GTGTGTCGCTGGGCACACTCC	0.662		NA											10	74					0	0	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	G	rs104894230		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:534288C>G	uc001lpv.2	-	2	223	c.35G>C	c.(34-36)GGC>GCC	p.G12A	HRAS_uc010qvw.1_Missense_Mutation_p.G12A|HRAS_uc010qvx.1_Missense_Mutation_p.G12A|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			9	46					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1283520	1283520	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:1283520A>C	uc009ycr.1	+	72	18404	c.18278A>C	c.(18277-18279)GAC>GCC	p.D6093A		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:Variant_position_missing_in_Q9HC84_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGTCCAGGACCCCCAGCAG	0.657		NA											11	91					0	0	0	0
OR56B1	387748	broad.mit.edu	37	11	5758256	5758256	+	Silent	SNP	G	G	T	rs149260229	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:5758256G>T	uc001mbt.1	+	1	510	c.510G>T	c.(508-510)GTG>GTT	p.V170V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.V170V|OR56B1_uc009yev.1_Silent_p.V170V	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGTGCCTGTGCTTGCAGCAC	0.473		NA											17	88					1.15e-07	1.48e-07	1	0
LMO1	4004	broad.mit.edu	37	11	8252036	8252036	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:8252036G>C	uc001mgg.1	-	2	538	c.41C>G	c.(40-42)TCC>TGC	p.S14C	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Missense_Mutation_p.S13C	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	14					cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCTGGACGGAGAGCATCGG	0.592		NA	T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							15	143					0	0	0	0
OR4C11	219429	broad.mit.edu	37	11	55371657	55371657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:55371657A>G	uc010rii.1	-	1	193	c.193T>C	c.(193-195)TCC>CCC	p.S65P		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTGCAAAGGACAAATAAAAT	0.403		NA											9	84					0	0	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066443	63066443	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:63066443G>T	uc009yor.2	+	5	1090	c.882G>T	c.(880-882)GAG>GAT	p.E294D	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.E134D	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	294	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						AACTAGATGAGGGCTTAAAGG	0.413		NA											8	61					1.13e-05	1.44e-05	1	0
LTBP3	4054	broad.mit.edu	37	11	65319552	65319552	+	Silent	SNP	G	G	A	rs111330939		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:65319552G>A	uc001oej.2	-	8	1691	c.1422C>T	c.(1420-1422)GGC>GGT	p.G474G	LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.G357G|LTBP3_uc001oei.2_Silent_p.G474G|LTBP3_uc010roj.1_Silent_p.G175G|LTBP3_uc010rok.1_Silent_p.G385G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	474						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						AGTCACTCTCGCCCTGAATGG	0.597		NA									OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	136					0	0	0	0
ARRB1	408	broad.mit.edu	37	11	74989766	74989766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:74989766G>A	uc001owe.1	-	8	727	c.505C>T	c.(505-507)CGG>TGG	p.R169W	ARRB1_uc001owf.1_Missense_Mutation_p.R169W	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	169				R->E: Constitutive active; enables phosphorylation-independent binding to GPCRs.	G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2						TGAACCTTCCGGATGACCAGA	0.592		NA											19	138					0	0	0	0
GRM5	2915	broad.mit.edu	37	11	88583210	88583210	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:88583210T>C	uc001pcq.2	-	2	975	c.775A>G	c.(775-777)AAG>GAG	p.K259E	GRM5_uc009yvm.2_Missense_Mutation_p.K259E	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	259	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)	TTCAGCAGCTTATCAAAGCTC	0.532		NA											5	50					0	0	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868742	89868742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:89868742C>T	uc001pdf.3	+	2	207	c.98C>T	c.(97-99)CCT>CTT	p.P33L	NAALAD2_uc009yvx.2_Missense_Mutation_p.P33L|NAALAD2_uc009yvy.2_Missense_Mutation_p.P33L|NAALAD2_uc001pdd.2_Missense_Mutation_p.P33L|NAALAD2_uc001pde.2_Missense_Mutation_p.P33L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	33	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATTAAGCCTCTCAAAGAA	0.378		NA											4	37					0	0	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984985	118984985	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:118984985G>T	uc001pvo.2	+	13	2178	c.1819G>T	c.(1819-1821)GAT>TAT	p.D607Y	C2CD2L_uc001pvn.2_Missense_Mutation_p.D608Y	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	607						integral to membrane					0						AACCCGTTCGGATATTTCTGA	0.572		NA											11	142					1.09e-07	1.4e-07	1	0
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	C	T	rs147550190		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:124487352C>T	uc001qah.2	+	3	507	c.507C>T	c.(505-507)TCC>TCT	p.S169S		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	169	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458		NA											19	105					0	0	0	0
GALNT8	26290	broad.mit.edu	37	12	4874614	4874614	+	Missense_Mutation	SNP	C	C	T	rs148196108		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:4874614C>T	uc001qne.1	+	10	1755	c.1663C>T	c.(1663-1665)CGC>TGC	p.R555C		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	555	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						TGCTAGTGATCGCTGCCTGAC	0.438		NA											4	47					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:9304243C>T	uc001qvl.2	-	33	4267	c.4238G>A	c.(4237-4239)CGG>CAG	p.R1413Q	PZP_uc009zgl.2_Missense_Mutation_p.R1199Q	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CACTTCTGTCCGGCTCACAGA	0.443		NA											5	33					0	0	0	0
MRPS35	60488	broad.mit.edu	37	12	27869315	27869315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:27869315C>T	uc001rih.2	+	3	293	c.245C>T	c.(244-246)CCT>CTT	p.P82L	MRPS35_uc001rii.2_Missense_Mutation_p.P82L	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35 precursor	82					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)					TCTGCAGTACCTCTTCCTGTT	0.448		NA											5	42					0	0	0	0
PUS7L	83448	broad.mit.edu	37	12	44148515	44148515	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:44148515G>A	uc001rnq.3	-	2	1023	c.534C>T	c.(532-534)GCC>GCT	p.A178A	PUS7L_uc001rnr.3_Silent_p.A178A|PUS7L_uc001rns.3_Silent_p.A178A|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	178					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGCCTAATGGCACTGTGTA	0.358		NA											10	83					0	0	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221562	56221562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:56221562C>T	uc001shx.1	-	2	1085	c.881G>A	c.(880-882)TGG>TAG	p.W294*	DNAJC14_uc001shu.1_Nonsense_Mutation_p.W294*|DNAJC14_uc009zob.1_Nonsense_Mutation_p.W294*|DNAJC14_uc001shy.1_Nonsense_Mutation_p.W294*	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	294					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						CCGCCCTGTCCACACTCCCAT	0.498		NA											9	89					0	0	0	0
GAS2L3	283431	broad.mit.edu	37	12	100995424	100995424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:100995424G>A	uc001thu.2	+	5	422	c.196G>A	c.(196-198)GTT>ATT	p.V66I	GAS2L3_uc009zty.2_Missense_Mutation_p.V66I|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	66	CH.				cell cycle arrest					skin(1)	1						AGGTATTAAAGTTAAGGCAGA	0.269		NA											11	82					0	0	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017977	101017977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:101017977G>A	uc001thu.2	+	10	1620	c.1394G>A	c.(1393-1395)TGT>TAT	p.C465Y	GAS2L3_uc009zty.2_Missense_Mutation_p.C465Y|GAS2L3_uc001thv.2_Missense_Mutation_p.C361Y	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	465					cell cycle arrest					skin(1)	1						CCAAATAAGTGTTCAGGAAAA	0.403		NA											8	94					0	0	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708250	106708250	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:106708250A>G	uc001tln.2	+	3	446	c.272A>G	c.(271-273)CAA>CGA	p.Q91R	TCP11L2_uc001tll.2_Missense_Mutation_p.Q91R|TCP11L2_uc001tlm.2_Missense_Mutation_p.Q91R	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	91										ovary(3)	3						CAATTGAAACAAGAGGCTCTC	0.323		NA											8	44					0	0	0	0
RASAL1	8437	broad.mit.edu	37	12	113553852	113553852	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:113553852T>C	uc001tum.1	-	10	1029	c.736A>G	c.(736-738)AAC>GAC	p.N246D	RASAL1_uc010syp.1_Missense_Mutation_p.N246D|RASAL1_uc001tul.2_Missense_Mutation_p.N246D|RASAL1_uc001tun.1_Missense_Mutation_p.N246D|RASAL1_uc010syq.1_Missense_Mutation_p.N246D|RASAL1_uc001tuo.3_Missense_Mutation_p.N246D|RASAL1_uc010syr.1_Missense_Mutation_p.N246D	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	246					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						GCACCCAGGTTCCCCCTGTCC	0.393		NA											4	51					0	0	0	0
KDM2B	84678	broad.mit.edu	37	12	122012498	122012498	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122012498C>T	uc001uat.2	-	4	455	c.351G>A	c.(349-351)AAG>AAA	p.K117K	KDM2B_uc001uas.2_Silent_p.K86K|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Silent_p.K117K	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	117					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GGTCAGGCATCCTGGGGAAAG	0.542		NA											6	66					0	0	0	0
WDR66	144406	broad.mit.edu	37	12	122386953	122386953	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122386953A>G	uc009zxk.2	+	8	1397	c.1255A>G	c.(1255-1257)ATA>GTA	p.I419V		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	419	WD 3.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACACGGGCAATATATTATGC	0.274		NA											7	59					0	0	0	0
PABPC3	5042	broad.mit.edu	37	13	25671496	25671496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:25671496C>T	uc001upy.2	+	1	1221	c.1160C>T	c.(1159-1161)GCA>GTA	p.A387V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	387					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGAGAATGGCAAGTGTACGA	0.502		NA											11	122					0	0	0	0
FLT1	2321	broad.mit.edu	37	13	28895620	28895620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:28895620C>T	uc001usb.3	-	23	3439	c.3154G>A	c.(3154-3156)GAT>AAT	p.D1052N	FLT1_uc010aap.2_Missense_Mutation_p.D57N|FLT1_uc010aaq.2_Missense_Mutation_p.D177N|FLT1_uc001usa.3_Missense_Mutation_p.D270N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1052	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCACATAATCGGGGTTCTTA	0.393		NA											5	110					0	0	0	0
CPB2	1361	broad.mit.edu	37	13	46627851	46627851	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:46627851G>A	uc001vaw.2	-	11	1237	c.1170C>T	c.(1168-1170)GGC>GGT	p.G390G	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Intron|ZC3H13_uc001vas.1_5'Flank|ZC3H13_uc001vat.1_5'Flank	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	390					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCCGTATGTGCCCGTATCTC	0.438		NA											12	70					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58208829	58208829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:58208829A>G	uc001vhq.1	+	1	3041	c.2149A>G	c.(2149-2151)ATC>GTC	p.I717V	PCDH17_uc010aec.1_Missense_Mutation_p.I717V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	717	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACTATCTCCATCATCCTCCT	0.607		NA											7	71					0	0	0	0
DIAPH3	81624	broad.mit.edu	37	13	60544103	60544103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:60544103C>G	uc001vht.2	-	17	2268	c.2049G>C	c.(2047-2049)GAG>GAC	p.E683D	DIAPH3_uc001vhu.2_Missense_Mutation_p.E420D|DIAPH3_uc001vhv.2_Missense_Mutation_p.E261D	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	683	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAATGTATTCTCAAGTTTAC	0.254		NA											3	19					0	0	0	0
EDNRB	1910	broad.mit.edu	37	13	78492516	78492516	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:78492516A>T	uc001vko.2	-	1	451	c.193T>A	c.(193-195)TCG>ACG	p.S65T	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.S65T|EDNRB_uc010aez.1_Missense_Mutation_p.S65T|EDNRB_uc001vkp.1_Missense_Mutation_p.S148T|EDNRB_uc010afa.1_Missense_Mutation_p.S65T	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	65	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGTGCCAACGACCGCGCCAGA	0.622		NA											8	82					0	0	0	0
ZIC2	7546	broad.mit.edu	37	13	100635244	100635244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:100635244G>C	uc001von.2	+	1	926	c.926G>C	c.(925-927)CGC>CCC	p.R309P		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	309	C2H2-type 2; atypical.				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)					GAGTGTCCGCGCGAGGGCAAG	0.622		NA											15	127					0	0	0	0
COL4A1	1282	broad.mit.edu	37	13	110827095	110827095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:110827095C>T	uc001vqw.3	-	38	3322	c.3200G>A	c.(3199-3201)GGA>GAA	p.G1067E	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1067	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGATCTCCCTGCAAGTA	0.463		NA											32	257					0	0	0	0
METT11D1	64745	broad.mit.edu	37	14	21464803	21464803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:21464803C>T	uc001vyn.2	+	13	1395	c.1198C>T	c.(1198-1200)CAT>TAT	p.H400Y	METT11D1_uc001vym.2_Missense_Mutation_p.H400Y|METT11D1_uc001vyo.2_Missense_Mutation_p.H400Y|METT11D1_uc001vyp.2_Missense_Mutation_p.H242Y|METT11D1_uc001vyq.2_Missense_Mutation_p.H242Y|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	400					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCGCCATGTGCATTGTCACTT	0.577		NA											7	77					0	0	0	0
LRP10	26020	broad.mit.edu	37	14	23346570	23346570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23346570G>A	uc001whd.2	+	7	2529	c.1976G>A	c.(1975-1977)CGA>CAA	p.R659Q	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	659	Pro-rich.|Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGGCCCTGCGAGGCCGCCTG	0.667		NA											11	91					0	0	0	0
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23524268C>T	uc001wil.2	-	3	756	c.496G>A	c.(496-498)GGG>AGG	p.G166R	CDH24_uc010akf.2_Missense_Mutation_p.G166R|CDH24_uc001win.3_Missense_Mutation_p.G166R	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	166	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552		NA									OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	107					0	0	0	0
YLPM1	56252	broad.mit.edu	37	14	75277087	75277087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:75277087A>G	uc001xqj.3	+	9	5316	c.5192A>G	c.(5191-5193)GAT>GGT	p.D1731G	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.D214G	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1536	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGACCGGGATCGATTTGAC	0.403		NA											3	115					0	0	0	0
C14orf179	112752	broad.mit.edu	37	14	76452140	76452140	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:76452140T>A	uc010asm.1	+	1	45	c.11T>A	c.(10-12)TTG>TAG	p.L4*	C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Nonsense_Mutation_p.L4*|C14orf179_uc001xsg.2_Nonsense_Mutation_p.L4*|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Nonsense_Mutation_p.L4*	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN	hypothetical protein LOC112752 isoform 2	4					cilium morphogenesis|intraflagellar retrograde transport						0				BRCA - Breast invasive adenocarcinoma(234;0.0199)		ATGGAGGATTTGCTCGACTTG	0.627		NA											5	44					0	0	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42115756	42115756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:42115756G>A	uc001zok.3	+	30	4014	c.3728G>A	c.(3727-3729)CGG>CAG	p.R1243Q	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R1237Q|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R744Q|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Missense_Mutation_p.R1076Q|MAPKBP1_uc010bck.2_Missense_Mutation_p.R454Q|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R744Q	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1243										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGTCCGTCTCGGCCTCACTCC	0.622		NA											8	56					0	0	0	0
TCF12	6938	broad.mit.edu	37	15	57565366	57565366	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:57565366T>A	uc002aec.2	+	18	2096	c.1812T>A	c.(1810-1812)TGT>TGA	p.C604*	TCF12_uc010ugm.1_Nonsense_Mutation_p.C656*|TCF12_uc010ugn.1_Nonsense_Mutation_p.C624*|TCF12_uc002aea.2_Nonsense_Mutation_p.C628*|TCF12_uc010bfs.2_Nonsense_Mutation_p.C25*|TCF12_uc002aeb.2_Nonsense_Mutation_p.C628*|TCF12_uc002aed.2_Nonsense_Mutation_p.C604*|TCF12_uc002aee.2_Nonsense_Mutation_p.C434*|TCF12_uc010bft.2_Nonsense_Mutation_p.C458*|TCF12_uc010ugo.1_Nonsense_Mutation_p.C368*|TCF12_uc010ugp.1_Nonsense_Mutation_p.C261*|TCF12_uc010ugq.1_Nonsense_Mutation_p.C238*|TCF12_uc010ugr.1_Nonsense_Mutation_p.C217*	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	604	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCCGAATGTGTCAGCTTCACT	0.458		NA	T	TEC	extraskeletal myxoid chondrosarcoma								17	85					0	0	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357758	58357758	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:58357758G>C	uc002aex.2	-	1	149	c.91C>G	c.(91-93)CCC>GCC	p.P31A	ALDH1A2_uc002aey.2_Missense_Mutation_p.P31A|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	31					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCGAGATTGGGCGTGGGCGAC	0.627		NA											4	53					0	0	0	0
CHSY1	22856	broad.mit.edu	37	15	101719015	101719015	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:101719015A>G	uc002bwt.1	-	4	1470	c.987T>C	c.(985-987)CAT>CAC	p.H329H	CHSY1_uc010usd.1_Silent_p.H57H	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	329	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATTGTGCGATGGCGGAGCT	0.498		NA											9	79					0	0	0	0
PTX4	390667	broad.mit.edu	37	16	1537772	1537772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:1537772C>T	uc010uvf.1	-	2	326	c.326G>A	c.(325-327)CGA>CAA	p.R109Q		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	114						extracellular region	metal ion binding				0						TTTCCGGCCTCGGCGCTGCAG	0.687		NA											13	77					0	0	0	0
MEFV	4210	broad.mit.edu	37	16	3296524	3296524	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:3296524C>T	uc002cun.1	-	6	1650	c.1610_splice	c.e6+1	p.R537_splice		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein						inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	CCTCGCTGTACCTGTGCAAGA	0.567		NA											4	40					0	0	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524589	10524589	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:10524589C>T	uc002czu.2	+	3	339	c.112C>T	c.(112-114)CTG>TTG	p.L38L	ATF7IP2_uc002czv.2_Silent_p.L38L|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Silent_p.L38L|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TGTTGAAGCGCTGAAAACAGC	0.408		NA											5	35					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20990733	20990733	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:20990733C>G	uc010vbe.1	-	50	7995	c.7995G>C	c.(7993-7995)CTG>CTC	p.L2665L	DNAH3_uc010vbd.1_Silent_p.L100L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2665	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCTTGCTATTCAGGAGCGTCT	0.468		NA											8	91					0	0	0	0
ARMC5	79798	broad.mit.edu	37	16	31477646	31477646	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:31477646C>T	uc002ecc.2	+	6	2773	c.2244C>T	c.(2242-2244)CCC>CCT	p.P748P	ARMC5_uc010vfn.1_Silent_p.P843P|ARMC5_uc010vfo.1_Silent_p.P780P|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Silent_p.P556P|ARMC5_uc002ecb.2_3'UTR	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	748	BTB.						binding			pancreas(1)	1						TCCCAGCTCCCGACCTGCACT	0.667		NA											3	32					0	0	0	0
ADCY7	113	broad.mit.edu	37	16	50347892	50347892	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:50347892C>T	uc002egd.1	+	22	3043	c.2775C>T	c.(2773-2775)AGC>AGT	p.S925S		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	925	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCAAGTTCAGCGGCGTGGAGA	0.617		NA											6	57					0	0	0	0
CTCF	10664	broad.mit.edu	37	16	67670670	67670670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:67670670C>T	uc002etl.2	+	11	2205	c.1915C>T	c.(1915-1917)CAG>TAG	p.Q639*	CTCF_uc010cek.2_Nonsense_Mutation_p.Q311*|CTCF_uc002etm.1_Nonsense_Mutation_p.Q128*	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	639					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCAGAGCCTCAGCCTGTGAC	0.547		NA											24	182					0	0	0	0
PHLPP2	23035	broad.mit.edu	37	16	71718486	71718486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:71718486G>A	uc002fax.2	-	4	634	c.628C>T	c.(628-630)CGG>TGG	p.R210W	PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Missense_Mutation_p.R210W|PHLPP2_uc002fay.1_Missense_Mutation_p.R210W	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	210	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GAGTATTGCCGTCGCTTCACT	0.478		NA											8	37					0	0	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482788	76482788	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:76482788C>T	uc002feu.1	+	8	1252	c.867C>T	c.(865-867)GAC>GAT	p.D289D	CNTNAP4_uc002fev.1_Silent_p.D201D|CNTNAP4_uc010chb.1_Silent_p.D264D|CNTNAP4_uc002fex.1_Silent_p.D292D|CNTNAP4_uc002few.2_Silent_p.D264D	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	289	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TCACAGTGGACGAACACAGGC	0.448		NA											4	26					0	0	0	0
TM4SF5	9032	broad.mit.edu	37	17	4684093	4684093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4684093C>G	uc002fyw.1	+	2	218	c.187C>G	c.(187-189)CCG>GCG	p.P63A		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	63	Helical; (Potential).					integral to plasma membrane				ovary(1)	1						GGTACTGTGTCCGGGGATTGC	0.423		NA											7	22					0	0	0	0
PSMB6	5694	broad.mit.edu	37	17	4700737	4700737	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4700737T>C	uc002fzb.2	+	3	208	c.175T>C	c.(175-177)TAC>CAC	p.Y59H		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	59					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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						CTGCAGGTCCTACATCGCCAA	0.547		NA											3	192					0	0	0	0
TOM1L2	146691	broad.mit.edu	37	17	17751077	17751077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:17751077C>T	uc002grz.3	-	15	1553	c.1396G>A	c.(1396-1398)GAA>AAA	p.E466K	TOM1L2_uc002gry.3_Missense_Mutation_p.E416K|TOM1L2_uc010vwy.1_Missense_Mutation_p.E442K|TOM1L2_uc010cpr.2_Missense_Mutation_p.E421K|TOM1L2_uc010vwz.1_Missense_Mutation_p.E347K|TOM1L2_uc010vxa.1_Missense_Mutation_p.E348K|TOM1L2_uc002grv.3_Missense_Mutation_p.E199K	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	466				E -> V (in Ref. 1; AAL78338).	intracellular protein transport	intracellular					0	all_neural(463;0.228)					TTGGCTCTTTCTTCAAGGAAT	0.592		NA											5	74					0	0	0	0
ALDOC	230	broad.mit.edu	37	17	26901251	26901251	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:26901251A>G	uc002hbp.2	-	7	778	c.633T>C	c.(631-633)GCT>GCC	p.A211A	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Silent_p.A183A	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	211					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					TGTACACAGCAGCCAAGACCT	0.567		NA											18	186					0	0	0	0
GRB7	2886	broad.mit.edu	37	17	37901747	37901747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:37901747C>T	uc002hsr.2	+	11	1415	c.1165C>T	c.(1165-1167)CGG>TGG	p.R389W	GRB7_uc002hss.2_Missense_Mutation_p.R389W|GRB7_uc010cwc.2_Missense_Mutation_p.R389W|GRB7_uc002hst.2_Missense_Mutation_p.R389W	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	389					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAGAACCCCCGGGAGGCTCT	0.612		NA											10	70					0	0	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027749	38027749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:38027749C>A	uc002hte.2	+	4	430	c.277C>A	c.(277-279)CAG>AAG	p.Q93K	ZPBP2_uc002htf.2_Missense_Mutation_p.Q71K	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2	93					binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAACTGGACAGCTGATGGT	0.294		NA											6	60					0.00198382	0.00241863	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254188	39254188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:39254188C>A	uc010wfo.1	-	1	188	c.149G>T	c.(148-150)TGC>TTC	p.C50F		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4.8	50	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|6.					keratin filament					0						CTGGGGTCTGCAGCAGCAGGA	0.652		NA											14	61					6.72e-11	8.93e-11	1	0
TUBG2	27175	broad.mit.edu	37	17	40818790	40818790	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:40818790A>T	uc010wgr.1	+	11	1584	c.1328A>T	c.(1327-1329)TAC>TTC	p.Y443F	TUBG2_uc002iaq.2_3'UTR|TUBG2_uc002iar.2_Missense_Mutation_p.Y290F|TUBG2_uc002ias.2_Missense_Mutation_p.Y285F|TUBG2_uc002iap.2_Missense_Mutation_p.Y290F	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	443					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CAGCCAGACTACATTTCCTGG	0.542		NA											5	62					0	0	0	0
RPRD1A	55197	broad.mit.edu	37	18	33607246	33607246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr18:33607246C>T	uc002kzf.1	-	5	520	c.514G>A	c.(514-516)GAT>AAT	p.D172N	RPRD1A_uc002kze.1_Missense_Mutation_p.D136N|RPRD1A_uc002kzg.2_Missense_Mutation_p.D172N|RPRD1A_uc010dmw.2_Missense_Mutation_p.D136N|RPRD1A_uc010dmx.2_Missense_Mutation_p.D172N	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	172										ovary(1)|breast(1)	2						TTTTCCAGATCTTGTAATGCT	0.353		NA											10	121					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9066795	9066795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9066795G>A	uc002mkp.2	-	3	20855	c.20651C>T	c.(20650-20652)ACA>ATA	p.T6884I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6886	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						TGCTGTGCTTGTGGAAGGATG	0.478		NA											28	217					0	0	0	0
MED26	9441	broad.mit.edu	37	19	16688252	16688252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:16688252C>T	uc002nen.1	-	3	650	c.389G>A	c.(388-390)CGC>CAC	p.R130H	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	130					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GAGGTCATTGCGGCTCTTCAG	0.746		NA											3	18					0	0	0	0
ZNF607	84775	broad.mit.edu	37	19	38190161	38190161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:38190161G>A	uc002ohc.1	-	5	1467	c.871C>T	c.(871-873)CGT>TGT	p.R291C	ZNF607_uc002ohb.1_Missense_Mutation_p.R290C	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	291	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAAACTGACGAAAGGCCTTT	0.428		NA											10	76					0	0	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509997	41509997	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:41509997T>C	uc002opr.1	+	2	270	c.263T>C	c.(262-264)CTT>CCT	p.L88P	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.L48P	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	88					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGGGAGGCCCTTGTGGACAAG	0.602		NA											3	118					0	0	0	0
ZNF835	90485	broad.mit.edu	37	19	57175375	57175375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:57175375C>T	uc010ygo.1	-	2	1258	c.1258G>A	c.(1258-1260)GCC>ACC	p.A420T	ZNF835_uc010ygn.1_Missense_Mutation_p.A398T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TGGCTGAAGGCGGCCCCGCAT	0.657		NA											9	63					0	0	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041718	54041718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:54041718A>T	uc002rxl.2	+	12	1545	c.1265A>T	c.(1264-1266)GAT>GTT	p.D422V	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Missense_Mutation_p.D368V	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	422					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						GATATTTGTGATATAACTGAC	0.318		NA											3	29					0	0	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472570	69472570	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:69472570A>G	uc002sfg.2	+	18	2004	c.1648A>G	c.(1648-1650)AAC>GAC	p.N550D		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	550	Cytoplasmic (Potential).|Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						tccacctcccaacagggcacc	0.169		NA							Familial_Infantile_Hemangioma				6	54					0	0	0	0
PROM2	150696	broad.mit.edu	37	2	95942354	95942354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:95942354G>A	uc002suh.1	+	5	764	c.631G>A	c.(631-633)GTG>ATG	p.V211M	PROM2_uc002sui.2_Missense_Mutation_p.V211M|PROM2_uc002suj.2_Translation_Start_Site|PROM2_uc002suk.2_Missense_Mutation_p.V211M|PROM2_uc002sul.2_Intron	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	211	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						GCTGCAGGCCGTGGCACAGCA	0.647		NA											7	57					0	0	0	0
CNNM4	26504	broad.mit.edu	37	2	97427064	97427064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:97427064G>A	uc002swx.2	+	1	426	c.328G>A	c.(328-330)GAG>AAG	p.E110K		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	110					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						CAGCTGCCTCGAGCTCACCAA	0.632		NA											10	53					0	0	0	0
VWA3B	200403	broad.mit.edu	37	2	98779314	98779314	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:98779314G>C	uc002syo.2	+	8	1253	c.989G>C	c.(988-990)GGA>GCA	p.G330A	VWA3B_uc010yvh.1_Missense_Mutation_p.G180A|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.G330A|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	330										ovary(3)|large_intestine(2)|skin(1)	6						CCCCTTTTAGGAGCTGGAGTC	0.612		NA											5	32					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:141130669C>T	uc002tvj.1	-	69	11648	c.10676G>A	c.(10675-10677)CGG>CAG	p.R3559Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3559	Extracellular (Potential).|LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368		NA								TSP Lung(27;0.18)			22	84					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:179477175C>T	uc010zfg.1	-	215	42597	c.42373G>A	c.(42373-42375)GTC>ATC	p.V14125I	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7820I|TTN_uc010zfi.1_Missense_Mutation_p.V7753I|TTN_uc010zfj.1_Missense_Mutation_p.V7628I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15052							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)			TTTCGCCTGACGTCTCTCTTT	0.463		NA											6	41					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196605563	196605563	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:196605563C>G	uc002utj.3	-	64	11896	c.11795G>C	c.(11794-11796)GGA>GCA	p.G3932A	DNAH7_uc002uti.3_Missense_Mutation_p.G415A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3932					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CCAGGAAGCTCCATCCAGAAA	0.303		NA											12	82					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202151199	202151199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202151199C>T	uc002uxr.1	+	10	1531	c.1322C>T	c.(1321-1323)ACC>ATC	p.T441I	CASP8_uc002uxp.1_Missense_Mutation_p.T458I|CASP8_uc002uxq.1_Missense_Mutation_p.T426I|CASP8_uc002uxt.1_Missense_Mutation_p.T500I|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.T426I|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.T357I	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	441					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						GATATTCTCACCATCCTGACT	0.413		NA								HNSCC(4;0.00038)			4	30					0	0	0	0
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202337718G>A	uc002uyd.3	+	5	599	c.234G>A	c.(232-234)CGG>CGA	p.R78R		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						ATCTTGCACGGCATACTCCCA	0.323		NA											4	125					0	0	0	0
AAMP	14	broad.mit.edu	37	2	219131638	219131638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:219131638C>T	uc002vhk.2	-	4	550	c.466G>A	c.(466-468)GGC>AGC	p.G156S	AAMP_uc002vhj.2_Missense_Mutation_p.G137S|AAMP_uc010fvo.2_Missense_Mutation_p.G156S|AAMP_uc002vhl.2_Missense_Mutation_p.G157S	NM_001087	NP_001078	Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	156	WD 2.				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAAGAGGCCACTCATGTCC	0.527		NA											27	69					0	0	0	0
HTR2B	3357	broad.mit.edu	37	2	231973514	231973514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:231973514C>A	uc002vro.2	-	4	1668	c.1163G>T	c.(1162-1164)CGG>CTG	p.R388L	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.R321L	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	388	Cytoplasmic (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAATGCATCCCGAAATGTCTT	0.438		NA											23	101					1.11e-09	1.46e-09	1	0
SPTLC3	55304	broad.mit.edu	37	20	13140735	13140735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:13140735C>T	uc002wod.1	+	11	1790	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	501					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)	AGCTCGGGCTCGGTTTTGTGT	0.507		NA											4	83					0	0	0	0
NANP	140838	broad.mit.edu	37	20	25604502	25604502	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:25604502A>T	uc002wuy.2	-	1	147	c.83T>A	c.(82-84)ATG>AAG	p.M28K	uc002wuz.2_5'Flank	NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	28					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity				0						TACCTCCAACATGCCTCTCCT	0.692		NA											5	45					0	0	0	0
C20orf132	140699	broad.mit.edu	37	20	35748234	35748234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:35748234C>T	uc010zvu.1	-	20	2358	c.2267G>A	c.(2266-2268)CGG>CAG	p.R756Q	C20orf132_uc002xgk.2_Missense_Mutation_p.R378Q	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		Myeloproliferative disorder(115;0.00878)				CACTGGACTCCGGAGAAGCTG	0.463		NA											11	100					0	0	0	0
SGK2	10110	broad.mit.edu	37	20	42213608	42213608	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:42213608C>G	uc002xkv.2	+	12	1455	c.1236C>G	c.(1234-1236)TTC>TTG	p.F412L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.F352L|SGK2_uc010ggm.2_3'UTR|SGK2_uc002xks.2_Missense_Mutation_p.F351L|SGK2_uc002xku.2_Missense_Mutation_p.F352L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	412	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAGTGCATTCCTGGGATTTT	0.478		NA											18	134					0	0	0	0
PRIC285	85441	broad.mit.edu	37	20	62197118	62197118	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:62197118C>T	uc002yfm.2	-	9	3949	c.3057G>A	c.(3055-3057)ACG>ACA	p.T1019T	PRIC285_uc002yfl.1_Silent_p.T450T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1019	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCGCAGCCTCCGTCTGCGCTG	0.687		NA											9	41					0	0	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877706	38877706	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr21:38877706G>C	uc002ywk.2	+	9	1435	c.1360G>C	c.(1360-1362)GAC>CAC	p.D454H	DYRK1A_uc002ywi.2_Missense_Mutation_p.D454H|DYRK1A_uc002ywj.2_Missense_Mutation_p.D445H|DYRK1A_uc002ywl.2_Missense_Mutation_p.D454H|DYRK1A_uc002ywm.2_Missense_Mutation_p.D454H|DYRK1A_uc011aei.1_Missense_Mutation_p.D215H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	454	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						GAAGTTCAAAGACCTCATTTT	0.453		NA											7	79					0	0	0	0
POTEH	23784	broad.mit.edu	37	22	16287402	16287402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:16287402C>T	uc010gqp.2	-	1	536	c.484G>A	c.(484-486)GAC>AAC	p.D162N	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	162										skin(1)	1						AAAGCGCTGTCGTCGTAGTCT	0.587		NA											20	185					0	0	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127072	20127072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:20127072C>T	uc002zrq.2	+	3	404	c.298C>T	c.(298-300)CAG>TAG	p.Q100*	ZDHHC8_uc002zrr.1_Nonsense_Mutation_p.Q100*|ZDHHC8_uc010gsa.2_5'UTR	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	100	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GCGAGGTATCCAGGTCCGCAT	0.617		NA											4	79					0	0	0	0
SUSD2	56241	broad.mit.edu	37	22	24583660	24583660	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24583660C>G	uc002zzn.1	+	12	2057	c.2013C>G	c.(2011-2013)CTC>CTG	p.L671L		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	671	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGACCACCCTCAACCCCAGCC	0.592		NA											9	78					0	0	0	0
SNRPD3	6634	broad.mit.edu	37	22	24953663	24953663	+	Silent	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24953663T>A	uc003aam.1	+	2	461	c.21T>A	c.(19-21)ATT>ATA	p.I7I	C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Silent_p.I7I	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	7					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						GTGTGCCGATTAAAGTACTGC	0.478		NA											13	93					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41547861	41547861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:41547861G>A	uc003azl.3	+	15	3237	c.2842G>A	c.(2842-2844)GAA>AAA	p.E948K		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	948					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGTAAGCATTGAAGGACAGGT	0.478		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				20	121					0	0	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712335	31712335	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:31712335T>C	uc003cev.2	-	10	2248	c.1867A>G	c.(1867-1869)ACA>GCA	p.T623A	OSBPL10_uc003ceu.1_Missense_Mutation_p.T380A|OSBPL10_uc011axf.1_Missense_Mutation_p.T559A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	623					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		AATATCACTGTCGCTGAGTAC	0.547		NA											12	130					0	0	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275708	41275708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41275708C>T	uc010hia.1	+	11	1759	c.1603C>T	c.(1603-1605)CGA>TGA	p.R535*	CTNNB1_uc003ckp.2_Nonsense_Mutation_p.R535*|CTNNB1_uc003ckq.2_Nonsense_Mutation_p.R535*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.R535*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.R528*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.R463*|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	535	ARM 10.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGCCATTCCACGACTAGTTCA	0.488		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				12	81					0	0	0	0
RTP3	83597	broad.mit.edu	37	3	46539589	46539589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:46539589C>A	uc003cps.1	+	1	105	c.37C>A	c.(37-39)CAG>AAG	p.Q13K		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	13	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCAAATGTTTCAGGAGTTAAT	0.587		NA											9	73					5.49e-09	7.19e-09	1	0
USP19	10869	broad.mit.edu	37	3	49152891	49152891	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:49152891C>T	uc003cwd.1	-	11	1726	c.1565G>A	c.(1564-1566)CGG>CAG	p.R522Q	USP19_uc003cwa.2_Missense_Mutation_p.R330Q|USP19_uc003cvz.3_Missense_Mutation_p.R625Q|USP19_uc011bcg.1_Missense_Mutation_p.R613Q|USP19_uc003cwb.2_Missense_Mutation_p.R608Q|USP19_uc003cwc.1_Missense_Mutation_p.R280Q|USP19_uc011bch.1_Missense_Mutation_p.R623Q|USP19_uc011bci.1_Missense_Mutation_p.R610Q	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	522	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGAAGTCCCGGAGTTCCCG	0.527		NA											13	73					0	0	0	0
CD80	941	broad.mit.edu	37	3	119263487	119263487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:119263487C>A	uc003ecq.2	-	3	723	c.328G>T	c.(328-330)GAC>TAC	p.D110Y	CD80_uc010hqt.1_Missense_Mutation_p.D110Y|CD80_uc010hqu.1_Missense_Mutation_p.D110Y|CD80_uc003ecr.1_Missense_Mutation_p.D110Y	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	110	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	GTGCCCTCGTCAGATGGGCGC	0.483		NA											10	86					0.000673444	0.000832452	1	0
POLQ	10721	broad.mit.edu	37	3	121208599	121208599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:121208599G>A	uc003eee.3	-	16	3308	c.3179C>T	c.(3178-3180)TCT>TTT	p.S1060F	POLQ_uc003eed.2_Missense_Mutation_p.S232F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1060					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		ACACGCTCCAGAGTCTTTCAG	0.408		NA						DNA_polymerases_(catalytic_subunits)					10	128					0	0	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642482	122642482	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:122642482G>A	uc003efz.1	-	10	1558	c.1254C>T	c.(1252-1254)AAC>AAT	p.N418N	SEMA5B_uc011bju.1_Silent_p.N360N|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.N418N|SEMA5B_uc010hro.1_Silent_p.N360N|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	418	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGGGGATGGGGTTGGCTATGG	0.557		NA											13	96					0	0	0	0
EPHB1	2047	broad.mit.edu	37	3	134670357	134670357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:134670357C>T	uc003eqt.2	+	3	488	c.268C>T	c.(268-270)CGC>TGC	p.R90C	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.R90C	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	90	Extracellular (Potential).					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						CACAGAGATGCGCTTCACTGT	0.537		NA											4	42					0	0	0	0
HTRA3	94031	broad.mit.edu	37	4	8305956	8305956	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:8305956C>G	uc003gla.2	+	8	1350	c.1146C>G	c.(1144-1146)GTC>GTG	p.V382V		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	382	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						TCCCAGAGGTCAGCAGTGGAA	0.597		NA											9	68					0	0	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352332	70352332	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:70352332A>G	uc003hek.3	-	4	1132	c.1085T>C	c.(1084-1086)CTT>CCT	p.L362P	UGT2B4_uc011cap.1_Missense_Mutation_p.L226P|UGT2B4_uc003hel.3_Missense_Mutation_p.L362P	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	362					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						CTTACCAAGAAGATCATTCTG	0.338		NA											10	78					0	0	0	0
ENAM	10117	broad.mit.edu	37	4	71510266	71510266	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:71510266G>A	uc011caw.1	+	9	3404	c.3123G>A	c.(3121-3123)GAG>GAA	p.E1041E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	1041					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			AAGAAAATGAGAGTGAGAGGC	0.448		NA											7	57					0	0	0	0
USO1	8615	broad.mit.edu	37	4	76721831	76721831	+	Silent	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:76721831A>C	uc003hiu.2	+	15	1918	c.1743A>C	c.(1741-1743)CTA>CTC	p.L581L	USO1_uc003hiv.2_Silent_p.L423L|USO1_uc003hiw.2_Silent_p.L416L	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	581	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGAGAAACTAGGATTTATTA	0.353		NA											9	77					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187524190	187524190	+	Splice_Site	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:187524190T>C	uc003izf.2	-	20	11539	c.11351_splice	c.e20-1	p.E3784_splice		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor						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						ACCTTCCCTCTTCATTCAAAG	0.483		NA								HNSCC(5;0.00058)			21	70					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24537731	24537731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:24537731C>T	uc003jgr.1	-	3	616	c.284G>A	c.(283-285)GGA>GAA	p.G95E	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	95	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTCCATCTCCAGATAAGAT	0.368		NA								HNSCC(23;0.051)			6	57					0	0	0	0
FCHO2	115548	broad.mit.edu	37	5	72285313	72285313	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:72285313A>G	uc003kcl.2	+	3	301	c.185A>G	c.(184-186)AAT>AGT	p.N62S	FCHO2_uc011csl.1_Missense_Mutation_p.N62S|FCHO2_uc011csk.1_Missense_Mutation_p.N62S|FCHO2_uc011csm.1_5'Flank	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	62	FCH.									ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCTGCAAGCAATTATTCACAA	0.348		NA											3	11					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82817330	82817330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:82817330G>A	uc003kii.3	+	7	3561	c.3205G>A	c.(3205-3207)GAT>AAT	p.D1069N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D1069N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1069	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAGAGGGCGATGGATCAGC	0.463		NA											10	53					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90074703	90074703	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:90074703T>C	uc003kju.2	+	64	12967	c.12871T>C	c.(12871-12873)TCC>CCC	p.S4291P	GPR98_uc003kjt.2_Missense_Mutation_p.S1997P|GPR98_uc003kjw.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4291	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)		AATCATCCGTTCCAGTGGAGA	0.433		NA											16	150					0	0	0	0
AP3S1	1176	broad.mit.edu	37	5	115205749	115205749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:115205749G>C	uc003krl.2	+	3	313	c.197G>C	c.(196-198)AGA>ACA	p.R66T	AP3S1_uc003krk.2_Missense_Mutation_p.R44T|AP3S1_uc003krm.2_Missense_Mutation_p.R66T	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	66					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CTGATTTATAGACATTATGCA	0.303		NA											3	81					0	0	0	0
IL3	3562	broad.mit.edu	37	5	131396411	131396411	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:131396411G>T	uc003kwe.1	+	1	65	c.12G>T	c.(10-12)CTG>CTT	p.L4L		NM_000588	NP_000579	P08700	IL3_HUMAN	interleukin 3 precursor	4					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			ovary(2)|central_nervous_system(1)	3		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TGAGCCGCCTGCCCGTCCTGC	0.587		NA											4	56					0.00024832	0.000308021	1	0
PCDHA9	9752	broad.mit.edu	37	5	140229894	140229894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140229894C>T	uc003lhu.2	+	1	2538	c.1814C>T	c.(1813-1815)GCG>GTG	p.A605V	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_uc003lht.1_Missense_Mutation_p.A605V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTACAACGCGTGGCTTTCA	0.682		NA											9	91					0	0	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250227	140250227	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140250227C>T	uc003lia.2	+	1	2397	c.1539C>T	c.(1537-1539)AGC>AGT	p.S513S	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_uc011dae.1_Silent_p.S513S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	513	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.697		NA											26	180					0	0	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479608	156479608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:156479608G>C	uc010jij.1	-	4	622	c.437C>G	c.(436-438)ACG>AGG	p.T146R	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.T146R|HAVCR1_uc011ddm.1_Missense_Mutation_p.T146R	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	146	Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|2.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGCTCGTTCGAACAGT	0.468		NA											60	469					0	0	0	0
EBF1	1879	broad.mit.edu	37	5	158522653	158522653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:158522653C>T	uc010jip.2	-	4	688	c.386G>A	c.(385-387)CGC>CAC	p.R129H	EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Missense_Mutation_p.R129H|EBF1_uc003lxl.3_Missense_Mutation_p.R129H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	129					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAATGAGGCGCACGTAGAA	0.483		NA	T	HMGA2	lipoma								15	72					0	0	0	0
ODZ2	57451	broad.mit.edu	37	5	167643922	167643922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:167643922G>A	uc010jjd.2	+	22	4201	c.4201G>A	c.(4201-4203)GCC>ACC	p.A1401T	ODZ2_uc003lzr.3_Missense_Mutation_p.A1171T|ODZ2_uc003lzt.3_Missense_Mutation_p.A774T|ODZ2_uc010jje.2_Missense_Mutation_p.A665T	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CATGGATGTAGCCCAGGTGAG	0.527		NA											10	103					0	0	0	0
NUP153	9972	broad.mit.edu	37	6	17669742	17669742	+	Silent	SNP	G	G	C	rs149307511	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:17669742G>C	uc003ncd.1	-	6	1088	c.888C>G	c.(886-888)CTC>CTG	p.L296L	NUP153_uc011dje.1_Silent_p.L296L|NUP153_uc010jpl.1_Silent_p.L296L	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	296					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTGTGCACTGAGTTGCTTAG	0.383		NA											5	36					0	0	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726614	25726614	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:25726614C>T	uc003nfc.2	-	1	177	c.142G>A	c.(142-144)GCA>ACA	p.A48T	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	48					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TACACTGGTGCGCCTGCCCCT	0.517		NA											4	65					0	0	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205053	26205053	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:26205053G>C	uc003ngy.2	+	1	181	c.181G>C	c.(181-183)GTG>CTG	p.V61L		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	61					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				GGTTCTGAAGGTGTTTCTGGA	0.567		NA											9	87					0	0	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834947	27834947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:27834947G>C	uc003njx.2	-	1	413	c.361C>G	c.(361-363)CCC>GCC	p.P121A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	121					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TTGGCTTTGGGCTTGGCTTCC	0.597		NA											27	181					0	0	0	0
DST	667	broad.mit.edu	37	6	56765371	56765371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:56765371C>T	uc003pdf.2	-	3	293	c.265G>A	c.(265-267)GCA>ACA	p.A89T		NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGGGCAGCTGCGGCCGCTGCA	0.507		NA											11	71					0	0	0	0
KPNA5	3841	broad.mit.edu	37	6	117050816	117050816	+	Silent	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:117050816T>C	uc003pxh.2	+	13	1475	c.1344T>C	c.(1342-1344)CTT>CTC	p.L448L		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	445	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TAAATGGACTTGAAAATATTT	0.363		NA											16	120					0	0	0	0
HDDC2	51020	broad.mit.edu	37	6	125619867	125619867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:125619867C>T	uc003qaa.1	-	3	506	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	HDDC2_uc003qab.1_Intron	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GACCTCTTCTCGCCTATGTTT	0.269		NA											4	43					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4014086	4014086	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:4014086A>T	uc003smx.2	+	13	2042	c.1903A>T	c.(1903-1905)AGC>TGC	p.S635C		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	635	Ig-like C2-type 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTTCTCATCAGCCAGACGTG	0.562		NA											11	49					0	0	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377952	31377952	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:31377952C>G	uc003tch.2	-	2	1284	c.931G>C	c.(931-933)GAC>CAC	p.D311H		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	311					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						AAGTGGCTGTCGGTGGGCAAC	0.448		NA											8	71					0	0	0	0
ASB4	51666	broad.mit.edu	37	7	95157420	95157420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:95157420G>C	uc011kij.1	+	3	783	c.783G>C	c.(781-783)TGG>TGC	p.W261C	ASB4_uc003unx.2_Missense_Mutation_p.W261C	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	261	ANK 6.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGGCAGCCTGGAACTGTGACC	0.562		NA									OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	66					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509928	106509928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:106509928G>C	uc003vdv.3	+	2	2007	c.1922G>C	c.(1921-1923)AGA>ACA	p.R641T	PIK3CG_uc003vdu.2_Missense_Mutation_p.R641T|PIK3CG_uc003vdw.2_Missense_Mutation_p.R641T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	641					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GAAAATGTAAGAGCCATTGCA	0.338		NA											5	67					0	0	0	0
CNOT4	4850	broad.mit.edu	37	7	135047645	135047645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:135047645G>A	uc011kpy.1	-	11	2226	c.2134C>T	c.(2134-2136)CGC>TGC	p.R712C	CNOT4_uc003vss.2_Missense_Mutation_p.R638C|CNOT4_uc011kpz.1_Missense_Mutation_p.R709C|CNOT4_uc003vst.2_Missense_Mutation_p.R641C	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	Error:Variant_position_missing_in_O95628_after_alignment					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						GCCTAATGGCGGTCCAGTGTT	0.527		NA											45	399					0	0	0	0
EPHA1	2041	broad.mit.edu	37	7	143088618	143088618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:143088618G>A	uc003wcz.2	-	18	2950	c.2863C>T	c.(2863-2865)CAG>TAG	p.Q955*		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	955	SAM.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATTCCCATCTGCGTCAGGTCC	0.622		NA											6	33					0	0	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:144060770T>C	uc003wel.2	+	2	1126	c.1008T>C	c.(1006-1008)AAT>AAC	p.N336N	ARHGEF5_uc003wek.2_Silent_p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512		NA											3	162					0	0	0	0
DPP6	1804	broad.mit.edu	37	7	154561208	154561208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:154561208G>A	uc003wlk.2	+	9	1094	c.965G>A	c.(964-966)CGT>CAT	p.R322H	DPP6_uc003wli.2_Missense_Mutation_p.R258H|DPP6_uc003wlm.2_Missense_Mutation_p.R260H|DPP6_uc011kvq.1_Missense_Mutation_p.R215H	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	322	Extracellular (Potential).				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)			AATGATTCCCGTGTCCCCATC	0.552		NA											7	52					0	0	0	0
ADAM7	8756	broad.mit.edu	37	8	24333985	24333985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24333985C>T	uc003xeb.2	+	8	786	c.673C>T	c.(673-675)CGA>TGA	p.R225*	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	225	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTAAGGAACCGAATTTGGGG	0.318		NA											5	43					0	0	0	0
NEFL	4747	broad.mit.edu	37	8	24811239	24811239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24811239G>T	uc003xee.2	-	3	1342	c.1240C>A	c.(1240-1242)CAG>AAG	p.Q414K		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	414	Tail.|Tail, subdomain A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGGAGCTCTGGGAGTAGCCA	0.562		NA											12	80					1.62e-10	2.14e-10	1	0
POTEA	340441	broad.mit.edu	37	8	43152233	43152233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:43152233C>G	uc003xpz.1	+	2	413	c.370C>G	c.(370-372)CAA>GAA	p.Q124E	POTEA_uc003xqa.1_Missense_Mutation_p.Q124E	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	124	ANK 1.									ovary(1)	1						CAGACAATGTCAACTTCATGT	0.388		NA											5	111					0	0	0	0
PRKDC	5591	broad.mit.edu	37	8	48733339	48733339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:48733339G>A	uc003xqi.2	-	67	9334	c.9277C>T	c.(9277-9279)CAA>TAA	p.Q3093*	PRKDC_uc003xqj.2_Nonsense_Mutation_p.Q3093*|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3093	KIP-binding.|FAT.				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)				ACATCATCTTGCAGGAGGTAA	0.358		NA						NHEJ					7	21					0	0	0	0
TRPA1	8989	broad.mit.edu	37	8	72951161	72951161	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:72951161G>T	uc003xza.2	-	19	2409	c.2234C>A	c.(2233-2235)GCT>GAT	p.A745D	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	745	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TGAGTTGAAAGCCATTCCTGG	0.328		NA											10	73					2.74e-10	3.62e-10	1	0
PLEC	5339	broad.mit.edu	37	8	145003892	145003892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:145003892C>T	uc003zaf.1	-	23	3426	c.3256G>A	c.(3256-3258)GAG>AAG	p.E1086K	PLEC_uc003zab.1_Missense_Mutation_p.E949K|PLEC_uc003zac.1_Missense_Mutation_p.E953K|PLEC_uc003zad.2_Missense_Mutation_p.E949K|PLEC_uc003zae.1_Missense_Mutation_p.E917K|PLEC_uc003zag.1_Missense_Mutation_p.E927K|PLEC_uc003zah.2_Missense_Mutation_p.E935K|PLEC_uc003zaj.2_Missense_Mutation_p.E976K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1086	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCCGGTCCTCGGGTCCGAAG	0.692		NA											10	21					0	0	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348167	131348167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:131348167G>A	uc004bvl.3	+	19	2814	c.2701G>A	c.(2701-2703)GAG>AAG	p.E901K	SPTAN1_uc011mbg.1_Missense_Mutation_p.E901K|SPTAN1_uc011mbh.1_Missense_Mutation_p.E913K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E901K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E901K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	901	Spectrin 10.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGATGCTAACGAGGCTGAATC	0.572		NA											10	79					0	0	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165490	134165490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:134165490C>T	uc004cal.2	+	1	410	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	36	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCCGGAGCCCCGCAGCTCGGG	0.706		NA											9	23					0	0	0	0
KIAA1984	84960	broad.mit.edu	37	9	139694847	139694847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139694847C>T	uc004cjf.2	+	5	493	c.445C>T	c.(445-447)CGC>TGC	p.R149C		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	149	Potential.									ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGATCATCCGCCAGCTGGA	0.592		NA											3	17					0	0	0	0
LCNL1	401562	broad.mit.edu	37	9	139878139	139878139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139878139C>T	uc004ckh.1	+	1	695	c.101C>T	c.(100-102)GCC>GTC	p.A34V		NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	34							binding				0						GGTGACCTGGCCCTCAAGTTT	0.572		NA											10	108					0	0	0	0
KLHL13	90293	broad.mit.edu	37	X	117043397	117043397	+	Silent	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:117043397G>C	uc004eql.2	-	5	1295	c.1233C>G	c.(1231-1233)GTC>GTG	p.V411V	KLHL13_uc004eqk.2_Silent_p.V360V|KLHL13_uc011mtn.1_Silent_p.V251V|KLHL13_uc011mto.1_Silent_p.V405V|KLHL13_uc011mtp.1_Silent_p.V413V|KLHL13_uc004eqm.2_Silent_p.V360V|KLHL13_uc011mtq.1_Silent_p.V395V	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	411	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						CAAATCTGAAGACTGTATCAA	0.413		NA											10	44					0	0	0	0
LAMP2	3920	broad.mit.edu	37	X	119565263	119565263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:119565263G>A	uc004est.3	-	9	1328	c.1148C>T	c.(1147-1149)GCT>GTT	p.A383V	LAMP2_uc004ess.3_Intron|LAMP2_uc011mtz.1_Intron	NM_002294	NP_002285	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	383	Helical; (Potential).				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1						TGCCAAGGCAGCTCCCACCGC	0.448		NA											28	98					0	0	0	0
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:139866350G>A	uc004fbg.1	-	1	374	c.182C>T	c.(181-183)ACG>ATG	p.T61M	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	61	10.|23 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438		NA											32	89					0	0	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718785	142718785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:142718785G>A	uc004fbx.2	-	2	516	c.140C>T	c.(139-141)TCA>TTA	p.S47L	SLITRK4_uc004fby.2_Missense_Mutation_p.S47L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	47	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTAGACTGAAACCTTCTC	0.363		NA											10	27					0	0	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689702	153689702	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:153689702C>T	uc004flm.2	+	3	1031	c.858C>T	c.(856-858)GGC>GGT	p.G286G		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	286	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCGCGGCGTGGAGTACC	0.637		NA											22	52					0	0	0	0
NOC3L	64318	broad.mit.edu	37	10	96117971	96117972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:96117971_96117972insT	uc001kjq.1	-	3	306_307	c.218_219insA	c.(217-219)GGTfs	p.G73fs	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	73						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				CAATCCTTTTACCTGTACCACA	0.376		NA											7	94	---	---	---	---	NA	NA	NA	NA
PCBP2	5094	broad.mit.edu	37	12	53854894	53854895	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:53854894_53854895delGT	uc001sdl.3	+	7	821_822	c.471_472delGT	c.(469-474)GAGTGTfs	p.E157fs	PCBP2_uc001sdc.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdb.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sde.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdi.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdd.3_Frame_Shift_Del_p.E157fs|PCBP2_uc001sdf.3_Frame_Shift_Del_p.E157fs|PCBP2_uc009zna.2_Frame_Shift_Del_p.E118fs|PCBP2_uc010soi.1_5'Flank|PCBP2_uc001sdj.3_5'Flank|PCBP2_uc010soj.1_5'Flank|PCBP2_uc001sdk.3_5'Flank|PCBP2_uc010soh.1_Frame_Shift_Del_p.E157fs|PCBP2_uc009zmz.1_Frame_Shift_Del_p.E99fs|PCBP2_uc001sdg.1_RNA	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d	157_158	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						CCATCATTGAGTGTGTCAAACA	0.53		NA											8	58	---	---	---	---	NA	NA	NA	NA
CCDC60	160777	broad.mit.edu	37	12	119978433	119978435	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:119978433_119978435delCAT	uc001txe.2	+	14	2031_2033	c.1566_1568delCAT	c.(1564-1569)CACATC>CAC	p.I524del	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	524										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCGAGAACACATCATCCATATG	0.527		NA											17	155	---	---	---	---	NA	NA	NA	NA
SERP2	387923	broad.mit.edu	37	13	44953805	44953807	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:44953805_44953807delGAC	uc001uzj.2	+	2	297_299	c.113_115delGAC	c.(112-117)GGACCA>GCA	p.38_39GP>A	SERP2_uc001uzk.2_RNA	NM_001010897	NP_001010897	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein	38_39	Helical; Anchor for type IV membrane protein; (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane					0		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		TATCCTGTGGGACCATGGCTGTT	0.355		NA											15	182	---	---	---	---	NA	NA	NA	NA
MUC16	94025	broad.mit.edu	37	19	9091710	9091711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9091710_9091711insG	uc002mkp.2	-	1	308_309	c.104_105insC	c.(103-105)ACAfs	p.T35fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	35	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						AGGTGGCTCCTGTCAGTCCTGA	0.525		NA											7	38	---	---	---	---	NA	NA	NA	NA
MLL4	9757	broad.mit.edu	37	19	36215919	36215919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:36215919delT	uc010eei.2	+	11	3459	c.3459delT	c.(3457-3459)TCTfs	p.S1153fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1153					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTTGCTTCTTTTCCCAATG	0.587		NA											17	93	---	---	---	---	NA	NA	NA	NA
MLL4	9757	broad.mit.edu	37	19	36218428	36218429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:36218428_36218429insA	uc010eei.2	+	17	4207_4208	c.4207_4208insA	c.(4207-4209)GAGfs	p.E1403fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1403					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTGGCGAGAGGCCCTGAGC	0.678		NA											15	142	---	---	---	---	NA	NA	NA	NA
COL5A2	1290	broad.mit.edu	37	2	189916125	189916136	+	In_Frame_Del	DEL	CCATGAGAGCCA	CCATGAGAGCCA	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:189916125_189916136delCCATGAGAGCCA	uc002uqk.2	-	42	3116_3127	c.2841_2852delTGGCTCTCATGG	c.(2839-2853)CCTGGCTCTCATGGG>CCG	p.GSHG948del	COL5A2_uc010frx.2_In_Frame_Del_p.GSHG524del	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	948_951					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCACACGCCCATGAGAGCCAGGGTCCCCAC	0.608		NA											8	75	---	---	---	---	NA	NA	NA	NA
CTNNB1	1499	broad.mit.edu	37	3	41277959	41277960	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41277959_41277960delAG	uc010hia.1	+	13	2079_2080	c.1923_1924delAG	c.(1921-1926)ACAGAGfs	p.T641fs	CTNNB1_uc003ckp.2_Frame_Shift_Del_p.T641fs|CTNNB1_uc003ckq.2_Frame_Shift_Del_p.T641fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.T641fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.T634fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.T569fs|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Frame_Shift_Del_p.T76fs	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	641_642	ARM 12.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCTCTGACAGAGTTACTTCA	0.465		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				14	112	---	---	---	---	NA	NA	NA	NA
PDGFRB	5159	broad.mit.edu	37	5	149501528	149501528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:149501528delG	uc003lro.2	-	16	2728	c.2259delC	c.(2257-2259)CCCfs	p.P753fs	PDGFRB_uc010jhd.2_Frame_Shift_Del_p.P592fs	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	753	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAGCATGGGCACATAGT	0.542		NA	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								13	66	---	---	---	---	NA	NA	NA	NA
TBCC	6903	broad.mit.edu	37	6	42712835	42712836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:42712835_42712836insG	uc003osl.2	-	1	1049_1050	c.976_977insC	c.(976-978)CGGfs	p.R326fs		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	326					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGCCATATCCCGGGCCAGCCAG	0.485		NA											9	60	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139402475	139402475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139402475delC	uc004chz.2	-	21	3442	c.3442delG	c.(3442-3444)GAGfs	p.E1148fs	NOTCH1_uc004cia.1_Frame_Shift_Del_p.E378fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1148	Extracellular (Potential).|EGF-like 30.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGAGCACTCGTCCACCAGG	0.672		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			9	91	---	---	---	---	NA	NA	NA	NA