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
PANK4	55229	broad.mit.edu	37	1	2451776	2451776	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:2451776C>A	uc001ajm.1	-	5	693	c.684G>T	c.(682-684)CTG>CTT	p.L228L	PANK4_uc010nza.1_Silent_p.L189L	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	228					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTTGGTGAGCAGAGCGCCAA	0.647		NA											13	50					3.27e-08	5.4e-08	1	0
UBE4B	10277	broad.mit.edu	37	1	10209286	10209286	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:10209286C>T	uc001aqs.3	+	20	3349	c.2636C>T	c.(2635-2637)GCG>GTG	p.A879V	UBE4B_uc001aqr.3_Missense_Mutation_p.A750V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A334V|UBE4B_uc001aqt.1_Missense_Mutation_p.A219V	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	879					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTATTTGCAGCGTTGCCTGAG	0.289		NA											13	100					0	0	0	0
SLC9A11	284525	broad.mit.edu	37	1	173493986	173493986	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:173493986G>T	uc001giz.2	-	20	2869	c.2446C>A	c.(2446-2448)CTA>ATA	p.L816I	SLC9A11_uc009wwe.2_Missense_Mutation_p.L374I|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	816					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AGATTTTTTAGAGCTTTAGCA	0.373		NA											13	50					2.27e-07	3.7e-07	1	0
C1orf125	126859	broad.mit.edu	37	1	179437611	179437611	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:179437611C>G	uc001gmo.2	+	17	1959	c.1832C>G	c.(1831-1833)TCT>TGT	p.S611C	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_3'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.S611C	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	611											0						TTGATTAGTTCTCTTGACTTC	0.299		NA											11	39					0	0	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357118	20357118	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:20357118A>G	uc001iqg.1	+	4	1128	c.491A>G	c.(490-492)GAT>GGT	p.D164G	PLXDC2_uc001iqh.1_Missense_Mutation_p.D115G	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	164	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CTGTCCTTCGATTTTCCATTT	0.393		NA											6	48					0	0	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62647977	62647977	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:62647977C>T	uc001jli.2	-	7	1887	c.1449G>A	c.(1447-1449)ACG>ACA	p.T483T	RHOBTB1_uc001jlh.2_Silent_p.T483T|RHOBTB1_uc001jlj.2_Silent_p.T483T|RHOBTB1_uc001jlk.2_Silent_p.T483T|RHOBTB1_uc009xpe.1_Silent_p.T421T|RHOBTB1_uc001jll.2_Silent_p.T233T	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					CACCCGAGAACGTTCCCTTGC	0.443		NA											4	19					0	0	0	0
PRF1	5551	broad.mit.edu	37	10	72358341	72358341	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:72358341C>T	uc009xqg.2	-	3	1297	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	PRF1_uc001jrf.3_Missense_Mutation_p.R379Q	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	379	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TGGGCACGGCCGGCTGCAGTC	0.701		NA	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				4	22					0	0	0	0
DOCK1	1793	broad.mit.edu	37	10	129209186	129209186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:129209186G>A	uc001ljt.2	+	43	4427	c.4363G>A	c.(4363-4365)GCG>ACG	p.A1455T	DOCK1_uc010qun.1_Missense_Mutation_p.A1476T|DOCK1_uc009yaq.2_Missense_Mutation_p.A450T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1455	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAATGAATTTGCGGTAAAAAA	0.468		NA											8	21					0	0	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651549	1651549	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:1651549G>A	uc001lty.2	+	1	517	c.479G>A	c.(478-480)TGC>TAC	p.C160Y		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	160	8 X 4 AA repeats of C-C-X-P.|4.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAGCTGCTGCAAGCCCTGC	0.652		NA											7	116					0	0	0	0
SBF2	81846	broad.mit.edu	37	11	10064502	10064502	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:10064502C>A	uc001mib.2	-	3	306	c.168G>T	c.(166-168)CTG>CTT	p.L56L	SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	56	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTCTCTGGACAGCTGCCACC	0.378		NA											11	45					0.000219431	0.000333872	1	0
NAV2	89797	broad.mit.edu	37	11	20139697	20139697	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:20139697C>T	uc001mpr.3	+	38	7553	c.7192C>T	c.(7192-7194)CTG>TTG	p.L2398L	NAV2_uc001mpp.2_Silent_p.L2331L|NAV2_uc009yhx.2_Silent_p.L1459L|NAV2_uc009yhz.2_Silent_p.L1040L|NAV2_uc001mpu.2_Silent_p.L833L|NAV2_uc001mpv.2_Silent_p.L157L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2454						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCTGATGAGGCTGCAGGAGGC	0.552		NA											15	87					0	0	0	0
FIBIN	387758	broad.mit.edu	37	11	27016517	27016517	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:27016517G>A	uc001mrd.2	+	1	890	c.444G>A	c.(442-444)CAG>CAA	p.Q148Q		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	148						extracellular region|Golgi apparatus					0						AGCAGGGCCAGGAACAGGACA	0.592		NA											10	44					0	0	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289595	7289595	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7289595C>A	uc001qsr.2	+	7	1377	c.1099C>A	c.(1099-1101)CAG>AAG	p.Q367K	CLSTN3_uc001qss.2_Missense_Mutation_p.Q379K	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	367	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CTCTGGGCCCCAGGACAGCCT	0.592		NA											18	57					3.41e-10	5.74e-10	1	0
CD163L1	283316	broad.mit.edu	37	12	7522012	7522012	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7522012G>A	uc001qsy.2	-	15	4006	c.3980C>T	c.(3979-3981)GCC>GTC	p.A1327V	CD163L1_uc010sge.1_Missense_Mutation_p.A1337V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1327	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CCAGGGTTTGGCGTGACAGTC	0.537		NA											34	91					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715993	13715993	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:13715993G>A	uc001rbt.2	-	13	4358	c.4179C>T	c.(4177-4179)GAC>GAT	p.D1393D		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1393	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCACTGGTCGTCCCCAAAAG	0.617		NA											9	43					0	0	0	0
C14orf105	55195	broad.mit.edu	37	14	57938207	57938207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:57938207G>A	uc001xcy.2	-	6	900	c.757C>T	c.(757-759)CAG>TAG	p.Q253*	C14orf105_uc010trl.1_Nonsense_Mutation_p.Q293*|C14orf105_uc010trm.1_Nonsense_Mutation_p.Q164*|C14orf105_uc010trn.1_Nonsense_Mutation_p.Q164*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.Q252*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	253											0						AGCTGTCCCTGGGCCTCTTGT	0.453		NA											4	48					0	0	0	0
FLVCR2	55640	broad.mit.edu	37	14	76088433	76088433	+	Silent	SNP	G	G	A	rs143118396		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:76088433G>A	uc001xrs.2	+	2	1057	c.681G>A	c.(679-681)GCG>GCA	p.A227A	FLVCR2_uc010tvd.1_Silent_p.A22A	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	227	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTGGAATTGCGATTGGGTTCT	0.433		NA											33	208					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26866602	26866602	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:26866602G>A	uc001zaz.2	-	4	462	c.320C>T	c.(319-321)ACG>ATG	p.T107M	GABRB3_uc010uae.1_Missense_Mutation_p.T22M|GABRB3_uc001zba.2_Missense_Mutation_p.T107M|GABRB3_uc001zbb.2_Missense_Mutation_p.T163M|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	107	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATTGTCAAGCGTGAGGTTGAG	0.428		NA											18	76					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34105782	34105782	+	Splice_Site	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:34105782C>A	uc001zhi.2	+	74	10572	c.10502_splice	c.e74+2	p.R3501_splice	RYR3_uc010bar.2_Splice_Site_p.R3496_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGCCCAGGCAAGTATTTTG	0.502		NA											14	62					4.38e-07	7.08e-07	1	0
NUSAP1	51203	broad.mit.edu	37	15	41643315	41643315	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:41643315G>A	uc001zns.3	+	4	666	c.436G>A	c.(436-438)GCT>ACT	p.A146T	NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.A146T|NUSAP1_uc010bce.2_Missense_Mutation_p.A146T|NUSAP1_uc001znt.3_Missense_Mutation_p.A131T|NUSAP1_uc001znv.3_Missense_Mutation_p.A145T|NUSAP1_uc001znu.3_Missense_Mutation_p.A145T|NUSAP1_uc010ucw.1_Missense_Mutation_p.A123T|NUSAP1_uc001znw.3_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	146					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGCTGAGAATGCTGTTTCCTC	0.383		NA											8	31					0	0	0	0
TEKT5	146279	broad.mit.edu	37	16	10788316	10788316	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:10788316G>A	uc002czz.1	-	1	487	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	139	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						CCCAGGTTCCGGCAGGTGCCC	0.617		NA											5	175					0	0	0	0
TMCO7	79613	broad.mit.edu	37	16	68914511	68914511	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:68914511G>A	uc002ewi.3	+	7	1367	c.1355G>A	c.(1354-1356)AGA>AAA	p.R452K		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	452						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GAACTTAGTAGATGCATTGAG	0.279		NA											19	76					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578369	7578369	+	Splice_Site	SNP	A	A	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:7578369A>C	uc002gim.2	-	5	753	c.559_splice	c.e5+1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Splice_Site_p.G148_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(12)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCAGCTGCTCACCATCGCTAT	0.632		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	28					0	0	0	0
PSMD11	5717	broad.mit.edu	37	17	30771555	30771555	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:30771555C>G	uc010cta.1	+	1	54	c.14C>G	c.(13-15)GCG>GGG	p.A5G	PSMD11_uc010wbz.1_Missense_Mutation_p.A5G|PSMD11_uc002hhm.2_Missense_Mutation_p.A5G	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.373		NA											10	11					0	0	0	0
EME1	146956	broad.mit.edu	37	17	48452586	48452586	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:48452586C>T	uc002iqs.1	+	2	90	c.17C>T	c.(16-18)TCA>TTA	p.S6L	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.S6L	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	6					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTAAAGAAGTCATCACCCTCA	0.428		NA						Direct_reversal_of_damage|Homologous_recombination					13	58					0	0	0	0
PPM1E	22843	broad.mit.edu	37	17	57050198	57050198	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57050198A>G	uc002iwx.2	+	6	1249	c.1122A>G	c.(1120-1122)GAA>GAG	p.E374E	PPM1E_uc010ddd.2_Silent_p.E137E	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	383	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TTTAGGATGAAAAGCAGAGAA	0.398		NA											31	49					0	0	0	0
TRIM37	4591	broad.mit.edu	37	17	57158492	57158492	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57158492C>T	uc002iwy.3	-	6	902	c.458G>A	c.(457-459)CGT>CAT	p.R153H	TRIM37_uc002iwz.3_Missense_Mutation_p.R153H|TRIM37_uc002ixa.3_Missense_Mutation_p.R31H|TRIM37_uc010woc.1_Missense_Mutation_p.R119H	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	153	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCCATGAGACGCCGACGAAG	0.299		NA							Mulibrey_Nanism				40	55					0	0	0	0
ABCA10	10349	broad.mit.edu	37	17	67160232	67160232	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:67160232G>C	uc010dfa.1	-	28	4225	c.3346C>G	c.(3346-3348)CTT>GTT	p.L1116V	ABCA10_uc010wqs.1_Missense_Mutation_p.L108V|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1116	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					GTTGTTAAAAGAATGGTTTTA	0.313		NA											11	39					0	0	0	0
SDK2	54549	broad.mit.edu	37	17	71375666	71375666	+	Silent	SNP	G	G	A	rs141328074		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:71375666G>A	uc010dfm.2	-	35	4785	c.4785C>T	c.(4783-4785)TAC>TAT	p.Y1595Y	SDK2_uc002jjt.3_Silent_p.Y735Y|SDK2_uc010dfn.2_Silent_p.Y1274Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1595	Extracellular (Potential).|Fibronectin type-III 10.				cell adhesion	integral to membrane				ovary(2)	2						TCCGTATCTCGTACCGCCTGT	0.652		NA											5	44					0	0	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374915	6374915	+	Silent	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:6374915C>G	uc002meo.1	+	4	985	c.597C>G	c.(595-597)TCC>TCG	p.S199S		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	spermatogenesis associated 11 precursor	199						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GGCGCATCTCCGTGATCTGCC	0.637		NA											15	41					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	31039973	31039973	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:31039973C>A	uc002nsu.1	+	4	3585	c.3447C>A	c.(3445-3447)ATC>ATA	p.I1149I	ZNF536_uc010edd.1_Silent_p.I1149I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCATCCTGATCCCCGAAACCA	0.552		NA											12	59					2.81e-09	4.67e-09	1	0
KCTD15	79047	broad.mit.edu	37	19	34297787	34297787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:34297787G>A	uc002nuy.3	+	5	530	c.262G>A	c.(262-264)GGC>AGC	p.G88S	KCTD15_uc002nuv.2_Missense_Mutation_p.G88S|KCTD15_uc002nuw.3_Missense_Mutation_p.G88S|KCTD15_uc010xrt.1_Missense_Mutation_p.G88S|KCTD15_uc002nux.3_Missense_Mutation_p.G88S	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	88	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CCTCTTCAATGGCACTGAACC	0.567		NA											17	120					0	0	0	0
FAM98C	147965	broad.mit.edu	37	19	38897630	38897630	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:38897630C>T	uc002oin.1	+	7	850	c.831C>T	c.(829-831)CAC>CAT	p.H277H	FAM98C_uc002oio.1_Intron|FAM98C_uc010xtz.1_Missense_Mutation_p.R144C	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	277										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCATTGCACACGTTCTGGCTG	0.612		NA											32	102					0	0	0	0
NLRP7	199713	broad.mit.edu	37	19	55435180	55435180	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:55435180C>T	uc002qih.3	-	10	2947	c.2871G>A	c.(2869-2871)AAG>AAA	p.K957K	NLRP7_uc002qig.3_Silent_p.K986K|NLRP7_uc002qii.3_Silent_p.K1014K|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Silent_p.K1042K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	957	LRR 9.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GCTTGGGATTCTTTTCTTTCA	0.448		NA											35	67					0	0	0	0
NLRP5	126206	broad.mit.edu	37	19	56520174	56520174	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:56520174G>C	uc002qmj.2	+	3	463	c.463G>C	c.(463-465)GAA>CAA	p.E155Q	NLRP5_uc002qmi.2_Missense_Mutation_p.E155Q	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	155						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAAGATCCTGAAGCAACGAT	0.388		NA											3	22					0	0	0	0
MAPRE3	22924	broad.mit.edu	37	2	27248513	27248513	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:27248513G>A	uc002rhw.2	+	5	685	c.532G>A	c.(532-534)GTG>ATG	p.V178M	MAPRE3_uc002rhx.2_Missense_Mutation_p.V163M	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family,	178					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAGCAATGTGGCCCCCCC	0.567		NA											12	47					0	0	0	0
HSPC159	29094	broad.mit.edu	37	2	64683576	64683576	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:64683576T>C	uc002scy.3	+	4	705	c.352T>C	c.(352-354)TTC>CTC	p.F118L		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	galectin-related protein	118	Galectin.					intracellular	sugar binding				0						TTACTTTCCATTCATTCCAGA	0.493		NA											31	168					0	0	0	0
HTRA2	27429	broad.mit.edu	37	2	74757782	74757782	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:74757782G>T	uc002smi.1	+	2	1147	c.545G>T	c.(544-546)GGC>GTC	p.G182V	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.G182V|HTRA2_uc002smk.1_Missense_Mutation_p.G182V|HTRA2_uc002sml.1_Missense_Mutation_p.G182V|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	182	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						ATCTCGAACGGCTCAGGATTC	0.622		NA											11	53					2.81e-09	4.67e-09	1	0
C2orf89	129293	broad.mit.edu	37	2	85051144	85051144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:85051144G>A	uc010ysl.1	-	6	1356	c.1267C>T	c.(1267-1269)CGG>TGG	p.R423W	C2orf89_uc002sou.3_Missense_Mutation_p.R374W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	423	Extracellular (Potential).					integral to membrane				ovary(1)	1						GACCGCCTCCGCTTCTTCCGG	0.657		NA											7	21					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141457979	141457979	+	Silent	SNP	C	C	T	rs143179717	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:141457979C>T	uc002tvj.1	-	41	7611	c.6639G>A	c.(6637-6639)AGG>AGA	p.R2213R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2213	Extracellular (Potential).				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)		TCTCATATGGCCTTATTGGGG	0.348		NA								TSP Lung(27;0.18)			22	79					0	0	0	0
COBLL1	22837	broad.mit.edu	37	2	165551294	165551294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:165551294G>A	uc010zcw.1	-	15	3047	c.2923C>T	c.(2923-2925)CAG>TAG	p.Q975*	COBLL1_uc002ucp.2_Nonsense_Mutation_p.Q908*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.Q870*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.Q916*|COBLL1_uc002ucn.2_Nonsense_Mutation_p.Q336*|COBLL1_uc002uco.2_Nonsense_Mutation_p.Q639*	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	946										ovary(2)|pancreas(1)	3						TTCTGCATCTGCAAAAAAAAA	0.413		NA											14	43					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170025080	170025080	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:170025080G>A	uc002ues.2	-	61	11817	c.11604C>T	c.(11602-11604)GGC>GGT	p.G3868G		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3868	LDL-receptor class A 34.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGAACCATCGCCACAGTCAT	0.453		NA											6	32					0	0	0	0
FAM119A	151194	broad.mit.edu	37	2	208486636	208486636	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:208486636G>A	uc002vcf.2	-	3	313	c.153C>T	c.(151-153)ATC>ATT	p.I51I	FAM119A_uc002vce.2_Silent_p.I51I|FAM119A_uc010fuk.1_Silent_p.I51I|FAM119A_uc002vcg.3_Silent_p.I51I	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	51	Helical; (Potential).					integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		TGGAAAGAACGATGGCCTGAA	0.582		NA											13	58					0	0	0	0
RRBP1	6238	broad.mit.edu	37	20	17623695	17623695	+	Missense_Mutation	SNP	C	C	T	rs144923230		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr20:17623695C>T	uc002wpv.1	-	5	1045	c.691G>A	c.(691-693)GAG>AAG	p.E231K	RRBP1_uc002wpu.2_Missense_Mutation_p.E5K|RRBP1_uc002wpw.1_Missense_Mutation_p.E231K|RRBP1_uc010gcl.1_Missense_Mutation_p.E5K	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	664	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						GCCTCGCCCTCGTTGAACACC	0.632		NA											10	31					0	0	0	0
PAX1	5075	broad.mit.edu	37	20	21687260	21687260	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr20:21687260C>T	uc002wsj.2	+	2	525	c.471C>T	c.(469-471)ACC>ACT	p.T157T	PAX1_uc010zsl.1_Silent_p.T157T|PAX1_uc010zsm.1_Silent_p.T133T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	157	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						ACAACGAGACCGGCTCCATTC	0.657		NA											13	52					0	0	0	0
TRPM2	7226	broad.mit.edu	37	21	45820227	45820227	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr21:45820227T>G	uc002zet.1	+	16	2507	c.2294T>G	c.(2293-2295)CTG>CGG	p.L765R	TRPM2_uc002zeu.1_Missense_Mutation_p.L765R|TRPM2_uc002zew.1_Missense_Mutation_p.L765R|TRPM2_uc010gpt.1_Missense_Mutation_p.L765R|TRPM2_uc002zex.1_Missense_Mutation_p.L551R|TRPM2_uc002zey.1_Missense_Mutation_p.L278R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	765	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCTTCCCGCTGCTCCTCACC	0.498		NA											11	22					0	0	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:14154580G>A	uc003byj.3	-	3	431	c.236C>T	c.(235-237)ACG>ATG	p.T79M	CHCHD4_uc003byi.3_Missense_Mutation_p.T92M	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain	79	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space					0						GATCTCCTCCGTGCTATAGTG	0.483		NA											11	29					0	0	0	0
RBMS3	27303	broad.mit.edu	37	3	30032698	30032698	+	Silent	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:30032698T>C	uc003cel.2	+	14	1535	c.1305T>C	c.(1303-1305)TCT>TCC	p.S435S	RBMS3_uc003cek.2_Silent_p.S419S|RBMS3_uc010hfq.2_Silent_p.S432S|RBMS3_uc003cem.2_Silent_p.S417S|RBMS3_uc010hfr.2_Silent_p.S419S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	435						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ACCAACAGTCTAAGTAAGTCT	0.403		NA											15	51					0	0	0	0
C3orf38	285237	broad.mit.edu	37	3	88202409	88202409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:88202409C>T	uc003dqw.2	+	3	474	c.163C>T	c.(163-165)CAA>TAA	p.Q55*		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	55					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATACAGTCAAAGTGCAGA	0.383		NA											8	32					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130289967	130289967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:130289967C>T	uc010htl.2	+	6	2738	c.2707C>T	c.(2707-2709)CGG>TGG	p.R903W		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	903	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CACTGAAGCCCGGGGCAGCCG	0.542		NA											4	30					0	0	0	0
SPSB4	92369	broad.mit.edu	37	3	140785630	140785630	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:140785630C>T	uc003ett.2	+	2	938	c.684C>T	c.(682-684)AAC>AAT	p.N228N	SPSB4_uc010hum.2_Silent_p.N228N	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	228	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						GCTACATCAACGGCCTTGACC	0.632		NA											11	36					0	0	0	0
NLGN1	22871	broad.mit.edu	37	3	173998386	173998386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:173998386G>T	uc003fio.1	+	7	2188	c.1765G>T	c.(1765-1767)GGA>TGA	p.G589*	NLGN1_uc003fip.1_Nonsense_Mutation_p.G589*	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	606	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCTCCATATTGGATTAAAACC	0.393		NA											8	71					3.1e-07	5.03e-07	1	0
GRXCR1	389207	broad.mit.edu	37	4	43022418	43022418	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:43022418C>G	uc003gwt.2	+	3	675	c.675C>G	c.(673-675)GAC>GAG	p.D225E		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	225	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						AACTGCAAGACATCCTAACCA	0.308		NA											8	32					0	0	0	0
LNX1	84708	broad.mit.edu	37	4	54362403	54362403	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:54362403G>A	uc003hag.3	-	6	1393	c.1137C>T	c.(1135-1137)AGC>AGT	p.S379S	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.S283S|LNX1_uc003hah.3_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	379						cytoplasm	zinc ion binding	p.A379A(1)		ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCACATGAAAGCTGTCATCTC	0.542		NA											25	95					0	0	0	0
ADAM29	11086	broad.mit.edu	37	4	175898390	175898390	+	Missense_Mutation	SNP	C	C	A	rs146793989		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:175898390C>A	uc003iuc.2	+	5	2384	c.1714C>A	c.(1714-1716)CAT>AAT	p.H572N	ADAM29_uc003iud.2_Missense_Mutation_p.H572N|ADAM29_uc010irr.2_Missense_Mutation_p.H572N|ADAM29_uc011cki.1_Missense_Mutation_p.H572N	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	572	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTACTGTGCATTGGGCTCG	0.408		NA											22	104					1.5e-11	2.55e-11	1	0
SEMA6A	57556	broad.mit.edu	37	5	115831982	115831982	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:115831982C>T	uc010jck.2	-	5	1016	c.307G>A	c.(307-309)GAT>AAT	p.D103N	SEMA6A_uc003krx.3_Missense_Mutation_p.D103N	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	103	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGTCTACatcggcctgtcta	0.308		NA											16	88					0	0	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595589	140595589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:140595589G>T	uc003lja.1	+	1	2081	c.1894G>T	c.(1894-1896)GAG>TAG	p.E632*		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	632	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.697		NA											13	57					3.53e-06	5.58e-06	1	0
C5orf4	10826	broad.mit.edu	37	5	154214197	154214197	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:154214197G>A	uc003lvs.3	-	4	403	c.232C>T	c.(232-234)CTC>TTC	p.L78F	C5orf4_uc011dde.1_Missense_Mutation_p.L55F	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	hypothetical protein LOC10826	78	Helical; (Potential).				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAAAGAAGAGGATCCACTCC	0.453		NA											11	32					0	0	0	0
FAM71B	153745	broad.mit.edu	37	5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:156592924C>T	uc003lwn.2	-	1	356	c.256G>A	c.(256-258)GTC>ATC	p.V86I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	86						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542		NA											19	76					0	0	0	0
CLIC1	1192	broad.mit.edu	37	6	31698702	31698702	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:31698702C>T	uc003nwr.2	-	6	907	c.643G>A	c.(643-645)GCC>ACC	p.A215T	DDAH2_uc003nwp.2_5'Flank|DDAH2_uc003nwq.2_5'Flank|CLIC1_uc003rje.2_Missense_Mutation_p.A215T	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	215	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						TCTTCCCGGGCGTAGGCATTG	0.582		NA											11	49					0	0	0	0
EPHA7	2045	broad.mit.edu	37	6	93955064	93955064	+	Missense_Mutation	SNP	G	G	A	rs151105732	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:93955064G>A	uc003poe.2	-	16	3075	c.2834C>T	c.(2833-2835)ACG>ATG	p.T945M	EPHA7_uc003pof.2_Missense_Mutation_p.T940M|EPHA7_uc011eac.1_Missense_Mutation_p.T941M	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	945	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCCAGCTGCCGTGAAATTATC	0.363		NA											14	58					0	0	0	0
C6orf167	253714	broad.mit.edu	37	6	97677102	97677102	+	Silent	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:97677102G>C	uc003ppb.2	-	14	1973	c.1707C>G	c.(1705-1707)CTC>CTG	p.L569L	C6orf167_uc011eaf.1_Silent_p.L529L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	569					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CCTTCCAAATGAGGGCTCTCT	0.448		NA											14	46					0	0	0	0
ENPP1	5167	broad.mit.edu	37	6	132204896	132204896	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:132204896A>T	uc011ecf.1	+	22	2313	c.2293A>T	c.(2293-2295)ATG>TTG	p.M765L		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	765	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATAGTGCCAATGTACCAGAG	0.279		NA											13	70					0	0	0	0
SASH1	23328	broad.mit.edu	37	6	148840732	148840732	+	Silent	SNP	C	C	T	rs111245321		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:148840732C>T	uc003qme.1	+	10	1387	c.912C>T	c.(910-912)TCC>TCT	p.S304S	SASH1_uc011eeb.1_Silent_p.S65S	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	304							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGAACGGTCCGCCCTCTACT	0.537		NA											10	40					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152698022	152698022	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:152698022G>C	uc010kiw.2	-	57	9637	c.9035C>G	c.(9034-9036)GCA>GGA	p.A3012G	SYNE1_uc003qot.3_Missense_Mutation_p.A3019G|SYNE1_uc003qou.3_Missense_Mutation_p.A3012G|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.A90G|SYNE1_uc010kjb.1_Missense_Mutation_p.A2995G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3012	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAGGCTCTGCTTTTTGCAA	0.408		NA								HNSCC(10;0.0054)			7	30					0	0	0	0
GLCCI1	113263	broad.mit.edu	37	7	8095132	8095132	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:8095132C>T	uc003srk.2	+	4	1325	c.766C>T	c.(766-768)CGC>TGC	p.R256C		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	256											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGAGAAAGATCGCCAGTCACC	0.423		NA											6	52					0	0	0	0
VPS41	27072	broad.mit.edu	37	7	38835131	38835131	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:38835131C>A	uc003tgy.2	-	9	677	c.651G>T	c.(649-651)ATG>ATT	p.M217I	VPS41_uc003tgz.2_Missense_Mutation_p.M192I|VPS41_uc010kxn.2_Intron	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	217					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TGCAGGGATACATGTCTGGGC	0.443		NA											9	50					2.18e-05	3.41e-05	1	0
ZNF680	340252	broad.mit.edu	37	7	63982197	63982197	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:63982197T>C	uc003tta.2	-	4	1108	c.935A>G	c.(934-936)CAT>CGT	p.H312R	ZNF680_uc010kzr.2_Missense_Mutation_p.H239R	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	312	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				AATTCTCTTATGGTTAGTAAG	0.333		NA											8	29					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100679245	100679245	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:100679245A>G	uc003uxp.1	+	3	4601	c.4548A>G	c.(4546-4548)TTA>TTG	p.L1516L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1516	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACTGCATTAACAAGTATAC	0.483		NA											55	234					0	0	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608117	121608117	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:121608117A>G	uc003vjy.2	+	3	632	c.237A>G	c.(235-237)AAA>AAG	p.K79K	PTPRZ1_uc003vjz.2_Silent_p.K79K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	79	Extracellular (Potential).|Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATCTTAAGAAACTTAAATTTC	0.299		NA											17	51					0	0	0	0
OR9A4	130075	broad.mit.edu	37	7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:141619469C>T	uc003vwu.1	+	1	794	c.794C>T	c.(793-795)ACG>ATG	p.T265M		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478		NA											12	66					0	0	0	0
RARRES2	5919	broad.mit.edu	37	7	150037213	150037213	+	Silent	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:150037213G>C	uc003wha.2	-	3	372	c.255C>G	c.(253-255)CCC>CCG	p.P85P	RARRES2_uc010lpp.1_Silent_p.P85P	NM_002889	NP_002880	Q99969	RARR2_HUMAN	chemerin preproprotein	85					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTTTGCACTCGGGTTTCTTCC	0.582		NA											9	566					0	0	0	0
VIPR2	7434	broad.mit.edu	37	7	158824757	158824757	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:158824757T>C	uc003woh.2	-	11	1159	c.973A>G	c.(973-975)AGG>GGG	p.R325G	VIPR2_uc010lqx.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	325	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TTGGCCAGCCTCCTGCACAGA	0.602		NA											6	35					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616511	77616511	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:77616511G>T	uc003yav.2	+	2	575	c.188G>T	c.(187-189)GGT>GTT	p.G63V	ZFHX4_uc003yat.1_Missense_Mutation_p.G63V|ZFHX4_uc003yau.1_Missense_Mutation_p.G63V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G63V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	63						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTTGCTGGGTTTCAGCGTT	0.498		NA								HNSCC(33;0.089)			21	78					1.4e-16	2.41e-16	1	0
COL14A1	7373	broad.mit.edu	37	8	121239492	121239492	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:121239492A>G	uc003yox.2	+	17	2303	c.2038A>G	c.(2038-2040)ATT>GTT	p.I680V	COL14A1_uc003yoy.2_Missense_Mutation_p.I358V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	680	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCACATGTTATTGAAGGCCT	0.428		NA											11	44					0	0	0	0
ATAD2	29028	broad.mit.edu	37	8	124340642	124340642	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:124340642C>T	uc003yqh.3	-	25	3764	c.3656G>A	c.(3655-3657)GGA>GAA	p.G1219E	ATAD2_uc011lii.1_Missense_Mutation_p.G1010E|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAAGACTCTCCTGTGTTTCC	0.373		NA											27	97					0	0	0	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:128750945C>T	uc003ysh.1	+	3	950	c.437C>T	c.(436-438)TCA>TTA	p.S146L	MYC_uc003ysi.2_Missense_Mutation_p.S161L	NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	26					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:21971000C>A	uc003zpk.2	-	2	570	c.358G>T	c.(358-360)GAG>TAG	p.E120*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	120	ANK 4.		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	23					2.35e-11	3.98e-11	1	0
PTCH1	5727	broad.mit.edu	37	9	98229683	98229683	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:98229683C>G	uc004avk.3	-	15	2463	c.2275G>C	c.(2275-2277)GGC>CGC	p.G759R	PTCH1_uc010mro.2_Missense_Mutation_p.G608R|PTCH1_uc010mrp.2_Missense_Mutation_p.G608R|PTCH1_uc010mrq.2_Missense_Mutation_p.G608R|PTCH1_uc004avl.3_Missense_Mutation_p.G608R|PTCH1_uc010mrr.2_Missense_Mutation_p.G693R|PTCH1_uc004avm.3_Missense_Mutation_p.G758R	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	759	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCAGCAAGCCCAGAAAAAGG	0.527		NA							Basal_Cell_Nevus_syndrome				19	32					0	0	0	0
GSN	2934	broad.mit.edu	37	9	124091523	124091523	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:124091523A>G	uc004blf.1	+	15	2109	c.2048A>G	c.(2047-2049)GAG>GGG	p.E683G	GSN_uc004bld.1_Missense_Mutation_p.E632G|GSN_uc010mvq.1_Missense_Mutation_p.E643G|GSN_uc010mvr.1_Missense_Mutation_p.E643G|GSN_uc010mvu.1_Missense_Mutation_p.E632G|GSN_uc010mvt.1_Missense_Mutation_p.E632G|GSN_uc010mvs.1_Missense_Mutation_p.E632G|GSN_uc004ble.1_Missense_Mutation_p.E632G|GSN_uc010mvv.1_Missense_Mutation_p.E632G|GSN_uc011lyh.1_Missense_Mutation_p.E649G|GSN_uc011lyi.1_Missense_Mutation_p.E632G|GSN_uc011lyj.1_Missense_Mutation_p.E656G|GSN_uc004blg.1_Missense_Mutation_p.E414G	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	683	Actin-binding, Ca-sensitive (Potential).|Gelsolin-like 6.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CAGATCGAAGAGGTTCCTGGT	0.577		NA											35	40					0	0	0	0
SCML2	10389	broad.mit.edu	37	X	18323203	18323203	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:18323203C>T	uc004cyl.2	-	7	776	c.619G>A	c.(619-621)GAT>AAT	p.D207N	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.D207N|SCML2_uc011miz.1_Missense_Mutation_p.D141N	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	207	MBT 2.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					CTCCAGCCATCAAATGTGATA	0.458		NA											50	74					0	0	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411904	23411904	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:23411904T>G	uc004dal.3	+	3	2277	c.2269T>G	c.(2269-2271)TTA>GTA	p.L757V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	757	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TGTGCTATGCTTAATTTATGG	0.378		NA											19	22					0	0	0	0
OR2T1	26696	broad.mit.edu	37	1	248569358	248569361	+	Frame_Shift_Del	DEL	AATT	AATT	-	rs149888596	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:248569358_248569361delAATT	uc010pzm.1	+	1	63_66	c.63_66delAATT	c.(61-66)ACAATTfs	p.T21fs		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	21_22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCTAACAATTAATTCACATG	0.338		NA											21	65	---	---	---	---	NA	NA	NA	NA
SHANK1	50944	broad.mit.edu	37	19	51171632	51171634	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:51171632_51171634delGCC	uc002psx.1	-	22	3602_3604	c.3583_3585delGGC	c.(3583-3585)GGCdel	p.G1195del	SHANK1_uc002psw.1_In_Frame_Del_p.G579del	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1195	Poly-Gly.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		tgggcgaggAGCCGCCGCCGCCG	0.493		NA											2	4	---	---	---	---	NA	NA	NA	NA
AMBN	258	broad.mit.edu	37	4	71472228	71472228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:71472228delC	uc003hfl.2	+	13	1200	c.1125delC	c.(1123-1125)CTCfs	p.L375fs		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	375					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			TGAAGGGACTCCCCAGCGTCA	0.562		NA											12	43	---	---	---	---	NA	NA	NA	NA
SEC24B	10427	broad.mit.edu	37	4	110452620	110452620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:110452620delT	uc003hzk.2	+	20	3387	c.3332delT	c.(3331-3333)GTTfs	p.V1111fs	SEC24B_uc003hzl.2_Frame_Shift_Del_p.V1076fs|SEC24B_uc011cfp.1_Frame_Shift_Del_p.V1141fs|SEC24B_uc011cfq.1_Frame_Shift_Del_p.V1110fs|SEC24B_uc011cfr.1_Frame_Shift_Del_p.V1075fs	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1111					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGCCACTTGTTCATCTAATG	0.353		NA											25	63	---	---	---	---	NA	NA	NA	NA