Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
NOC2L	26155	broad.mit.edu	37	1	891548	891548	+	Silent	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:891548T>A	uc001abz.3	-	5	593	c.534A>T	c.(532-534)CGA>CGT	p.R178R	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Silent_p.R178R	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	178				R -> Q (in Ref. 1; CAB43240).		nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACAGCTGCTCGGAACGCCT	0.602		NA											77	37					0	0	0	0
ALPL	249	broad.mit.edu	37	1	21896804	21896804	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:21896804C>G	uc001bet.2	+	8	1056	c.799C>G	c.(799-801)CAC>GAC	p.H267D	ALPL_uc010odn.1_Missense_Mutation_p.H215D|ALPL_uc010odo.1_Missense_Mutation_p.H212D|ALPL_uc010odp.1_Missense_Mutation_p.H190D|ALPL_uc001beu.3_Missense_Mutation_p.H267D	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	267					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CTAGCACTCCCACTTCATCTG	0.587		NA											46	20					0	0	0	0
PPT1	5538	broad.mit.edu	37	1	40542559	40542559	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:40542559T>A	uc001cfb.2	-	8	985	c.753A>T	c.(751-753)CAA>CAT	p.Q251H	PPT1_uc010ojf.1_Intron|PPT1_uc010ojg.1_Missense_Mutation_p.Q148H|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	251					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCCTTGGCTTGGCCACTTC	0.463		NA											20	200					0	0	0	0
TIE1	7075	broad.mit.edu	37	1	43783610	43783610	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:43783610G>A	uc001ciu.2	+	17	2868	c.2789G>A	c.(2788-2790)CGG>CAG	p.R930Q	TIE1_uc010oke.1_Missense_Mutation_p.R885Q|TIE1_uc009vwq.2_Missense_Mutation_p.R886Q|TIE1_uc010okg.1_Missense_Mutation_p.R575Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	930	Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATTTTCTGCGGAAAAGCCGG	0.532		NA											187	366					0	0	0	0
ITGA10	8515	broad.mit.edu	37	1	145535006	145535006	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:145535006G>C	uc001eoa.2	+	15	1985	c.1909G>C	c.(1909-1911)GCC>CCC	p.A637P	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.A506P|ITGA10_uc009wiw.2_Missense_Mutation_p.A494P|ITGA10_uc010oyw.1_Missense_Mutation_p.A582P	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	637	Extracellular (Potential).|FG-GAP 7.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGGGGCAGCCATCCTGCT	0.438		NA											49	159					0	0	0	0
CLK2	1196	broad.mit.edu	37	1	155240700	155240700	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:155240700C>T	uc001fjy.2	-	2	359	c.69G>A	c.(67-69)CGG>CGA	p.R23R	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.R23R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.R23R	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTTCGGCTCCGATAGTGTT	0.572		NA						Other_conserved_DNA_damage_response_genes					59	145					0	0	0	0
LRRN2	10446	broad.mit.edu	37	1	204587388	204587388	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:204587388C>A	uc001hbe.1	-	3	2121	c.1733G>T	c.(1732-1734)GGA>GTA	p.G578V	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.G578V|LRRN2_uc009xbf.1_Missense_Mutation_p.G578V|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	578	Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCTGTGGGTTCCCCGAGGCAG	0.647		NA											15	53					1.03e-11	1.11e-11	1	0
OR2W3	343171	broad.mit.edu	37	1	248059227	248059227	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:248059227G>T	uc001idp.1	+	3	608	c.339G>T	c.(337-339)CTG>CTT	p.L113L	OR2W3_uc010pzb.1_Silent_p.L113L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAGTGCCTGCTTCTGGCTG	0.567		NA											49	94					1.33e-27	1.47e-27	1	0
CSTF2T	23283	broad.mit.edu	37	10	53459124	53459124	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:53459124G>A	uc001jjp.2	-	1	232	c.186C>T	c.(184-186)TGC>TGT	p.C62C	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	62	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTGGTATTCGCAGAAGCCAT	0.537		NA											75	149					0	0	0	0
CCAR1	55749	broad.mit.edu	37	10	70531028	70531028	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:70531028A>G	uc001joo.2	+	18	2483	c.2364A>G	c.(2362-2364)AAA>AAG	p.K788K	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.K593K|CCAR1_uc009xpx.1_Silent_p.K762K|CCAR1_uc001jon.1_Silent_p.K734K|CCAR1_uc010qiz.1_Silent_p.K773K|CCAR1_uc010qja.1_Silent_p.K773K|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	788	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						GTATATACAAATCATTACTGT	0.199		NA											54	118					0	0	0	0
PLCE1	51196	broad.mit.edu	37	10	95995857	95995857	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:95995857G>A	uc001kjk.2	+	7	3034	c.2400G>A	c.(2398-2400)TTG>TTA	p.L800L	PLCE1_uc010qnx.1_Silent_p.L800L|PLCE1_uc001kjm.2_Silent_p.L492L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	800					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				AAAGCTCCTTGAAGGATAAAA	0.458		NA											12	86					0	0	0	0
HPS1	3257	broad.mit.edu	37	10	100182223	100182223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr10:100182223C>T	uc010qpf.1	-	17	1892	c.1646G>A	c.(1645-1647)CGC>CAC	p.R549H	HPS1_uc001kpi.1_Missense_Mutation_p.R550H|HPS1_uc001kpj.1_Missense_Mutation_p.R457H|HPS1_uc001kpk.1_Missense_Mutation_p.R374H	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	549					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCAGTGGTGCGGTCCACATA	0.562		NA							Hermansky-Pudlak_syndrome				66	181					0	0	0	0
ABCC8	6833	broad.mit.edu	37	11	17427072	17427072	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:17427072C>A	uc001mnc.2	-	27	3494	c.3368G>T	c.(3367-3369)AGA>ATA	p.R1123I		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1123	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGAAAATCTGTTCAGGAT	0.512		NA											64	146					2.7e-31	3.02e-31	1	0
API5	8539	broad.mit.edu	37	11	43345053	43345053	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:43345053C>A	uc010rfh.1	+	6	790	c.617C>A	c.(616-618)ACA>AAA	p.T206K	API5_uc010rfg.1_Missense_Mutation_p.T195K|API5_uc001mxf.2_Missense_Mutation_p.T206K|API5_uc010rfi.1_Missense_Mutation_p.T152K|API5_uc001mxg.2_Missense_Mutation_p.T80K	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	206					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						AGCTTACAGACAGTGAGTGGA	0.438		NA											50	94					6.19e-15	6.68e-15	1	0
OR5T1	390155	broad.mit.edu	37	11	56043909	56043909	+	Silent	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:56043909G>C	uc001nio.1	+	1	795	c.795G>C	c.(793-795)GGG>GGC	p.G265G		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTTATCATGGGACAATCCTCT	0.418		NA											219	247					0	0	0	0
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:61042028G>C	uc001nra.2	-	12	1803	c.1524C>G	c.(1522-1524)TAC>TAG	p.Y508*	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3.					extracellular region	calcium ion binding			ovary(1)	1						CCCCGTCTGCGTACCACCGGC	0.552		NA											30	147					0	0	0	0
NDUFV1	4723	broad.mit.edu	37	11	67377002	67377002	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:67377002C>T	uc001omj.2	+	4	559	c.406C>T	c.(406-408)CAC>TAC	p.H136Y	NDUFV1_uc010rpv.1_Missense_Mutation_p.H35Y|NDUFV1_uc001oml.2_Missense_Mutation_p.H129Y|NDUFV1_uc001omk.3_Missense_Mutation_p.H127Y|NDUFV1_uc009yrz.1_Missense_Mutation_p.H35Y|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	136					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	CCATGATCCTCACAAGCTGCT	0.632		NA											111	311					0	0	0	0
MYEOV	26579	broad.mit.edu	37	11	69062839	69062839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:69062839C>A	uc001oov.2	+	2	468	c.18C>A	c.(16-18)TGC>TGA	p.C6*	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Nonsense_Mutation_p.C6*|MYEOV_uc001oow.2_Intron	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	6											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		tcagaatctgcgtcacataca	0.055		NA											16	35					6.32e-08	6.67e-08	1	0
NCAPD2	9918	broad.mit.edu	37	12	6632162	6632162	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:6632162C>G	uc001qoo.2	+	16	2169	c.2123C>G	c.(2122-2124)TCT>TGT	p.S708C	NCAPD2_uc009zen.1_Missense_Mutation_p.S580C|NCAPD2_uc010sfd.1_Missense_Mutation_p.S663C	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	708					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						AAAGGGGACTCTGCCAGGTAT	0.542		NA											34	86					0	0	0	0
GYS2	2998	broad.mit.edu	37	12	21693415	21693415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:21693415G>A	uc001rfb.2	-	14	1993	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	580					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						ATCCTTTGGCGGCGTGACTGT	0.438		NA											117	267					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49435775	49435775	+	Splice_Site	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:49435775T>C	uc001rta.3	-	29	6110	c.6110_splice	c.e29-1	p.D2037_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTGACCAGTCTGGAGGGCAGA	0.557		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			14	2					0	0	0	0
SCN8A	6334	broad.mit.edu	37	12	52201177	52201177	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52201177C>T	uc001ryw.2	+	27	6085	c.5907C>T	c.(5905-5907)GCC>GCT	p.A1969A	uc001rzb.1_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1969					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGAAAGAGCCAAAAGACAAA	0.428		NA											16	23					0	0	0	0
ACVR1B	91	broad.mit.edu	37	12	52378996	52378996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52378996C>T	uc001rzn.2	+	6	1042	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	ACVR1B_uc001rzl.2_Nonsense_Mutation_p.R334*|ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R334*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R375*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	334	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATTGCTCATCGAGACTTAAA	0.363		NA											44	32					0	0	0	0
KRT5	3852	broad.mit.edu	37	12	52910945	52910945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:52910945C>G	uc001san.2	-	6	1327	c.1164G>C	c.(1162-1164)GAG>GAC	p.E388D	KRT5_uc009zmh.2_Missense_Mutation_p.E388D	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	388	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCGGTTCATCTCAGAGATCT	0.522		NA											180	100					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57571369	57571369	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:57571369C>T	uc001snd.2	+	26	4822	c.4356C>T	c.(4354-4356)GAC>GAT	p.D1452D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1452	Extracellular (Potential).|LDL-receptor class B 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGGATTGACGCCAGGTCAG	0.657		NA											11	53					0	0	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824419	70824419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:70824419C>T	uc001svx.2	+	3	1072	c.619C>T	c.(619-621)CGC>TGC	p.R207C	uc001svy.1_5'Flank	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	calcium-activated potassium channel beta 4	207	Cytoplasmic (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CATGAAGAAGCGCAAGTTCTC	0.552		NA											54	15					0	0	0	0
CAMKK2	10645	broad.mit.edu	37	12	121701709	121701709	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr12:121701709G>A	uc001tzu.2	-	6	783	c.659C>T	c.(658-660)CCT>CTT	p.P220L	CAMKK2_uc001tzt.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzv.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzw.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzx.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzy.2_Missense_Mutation_p.P220L|CAMKK2_uc001uaa.1_Missense_Mutation_p.P220L|CAMKK2_uc001uab.2_Missense_Mutation_p.P220L|CAMKK2_uc001uac.2_Missense_Mutation_p.P220L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	220	RP domain.|Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCAGCCTCCAGGAGCTGGCCG	0.612		NA											41	26					0	0	0	0
RNF17	56163	broad.mit.edu	37	13	25374506	25374506	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:25374506T>C	uc001upr.2	+	13	1633	c.1592T>C	c.(1591-1593)GTT>GCT	p.V531A	RNF17_uc010tdd.1_Missense_Mutation_p.V390A|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V531A|RNF17_uc001ups.2_Missense_Mutation_p.V470A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	531					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTCCTAGAGTTGTTGATACC	0.328		NA											53	159					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39264672	39264672	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr13:39264672G>T	uc001uwv.2	+	1	3500	c.3191G>T	c.(3190-3192)AGC>ATC	p.S1064I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1064	Extracellular (Potential).|CSPG 7.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTTGATAGCCAGGCCCCA	0.413		NA											92	168					4.08e-41	4.6e-41	1	0
L2HGDH	79944	broad.mit.edu	37	14	50736050	50736050	+	Splice_Site	SNP	T	T	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:50736050T>G	uc001wxu.2	-	7	818	c.739_splice	c.e7-1	p.G247_splice	L2HGDH_uc010tqn.1_Splice_Site_p.G247_splice|L2HGDH_uc010tqo.1_Splice_Site_p.G247_splice	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor						2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTCCTCTCCCTAGTGCAAAAT	0.383		NA											154	70					0	0	0	0
HIF1A	3091	broad.mit.edu	37	14	62207599	62207599	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:62207599C>G	uc001xfq.2	+	12	2190	c.1786C>G	c.(1786-1788)CAA>GAA	p.Q596E	HIF1A_uc001xfr.2_Missense_Mutation_p.Q596E|HIF1A_uc001xfs.2_Missense_Mutation_p.Q597E	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	596	ID.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CGCAAGTCCTCAAAGCACAGT	0.448		NA											55	106					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515625	70515625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:70515625C>G	uc001xly.2	-	7	3020	c.2266G>C	c.(2266-2268)GCC>CCC	p.A756P	SLC8A3_uc001xlu.2_Missense_Mutation_p.A113P|SLC8A3_uc001xlv.2_Missense_Mutation_p.A127P|SLC8A3_uc001xlw.2_Missense_Mutation_p.A753P|SLC8A3_uc001xlx.2_Missense_Mutation_p.A754P|SLC8A3_uc001xlz.2_Missense_Mutation_p.A750P|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.A113P	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	756	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCGAAGCAGGCCCAGCCGTGG	0.582		NA											8	27					0	0	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033334	95033334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr14:95033334C>G	uc001ydk.2	+	3	743	c.677C>G	c.(676-678)TCA>TGA	p.S226*	SERPINA4_uc010avd.2_Nonsense_Mutation_p.S263*|SERPINA4_uc001ydl.2_Nonsense_Mutation_p.S226*	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	226					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TTCATTTCCTCAAGGACCACT	0.512		NA											39	100					0	0	0	0
FMN1	342184	broad.mit.edu	37	15	33260945	33260945	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr15:33260945T>C	uc001zhf.3	-	4	2288	c.2288A>G	c.(2287-2289)TAT>TGT	p.Y763C		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	986	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTAGTCCAATATAAAGGCTT	0.463		NA											86	169					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2168022	2168022	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2168022C>T	uc002cos.1	-	5	1180	c.971G>A	c.(970-972)CGC>CAC	p.R324H	PKD1_uc002cot.1_Missense_Mutation_p.R324H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	324	Extracellular (Potential).|PKD 1.		R -> L (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CAGCACATAGCGATGCGAGGC	0.711		NA											10	12					0	0	0	0
PGP	283871	broad.mit.edu	37	16	2264251	2264251	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2264251G>C	uc002cpk.1	-	1	572	c.528C>G	c.(526-528)TTC>TTG	p.F176L	PGP_uc010uvz.1_RNA	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	176					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						TCATGTAGCTGAAGTGCGGGT	0.697		NA											6	25					0	0	0	0
ZG16B	124220	broad.mit.edu	37	16	2881955	2881955	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:2881955G>A	uc002cru.2	+	4	498	c.422G>A	c.(421-423)CGC>CAC	p.R141H		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16 homolog B precursor	141						extracellular region	sugar binding			ovary(1)	1						AGCAAGGACCGCTATTTCTAT	0.537		NA											49	103					0	0	0	0
NLRC3	197358	broad.mit.edu	37	16	3613683	3613683	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:3613683C>G	uc010btn.2	-	5	1666	c.1255G>C	c.(1255-1257)GAC>CAC	p.D419H		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	419	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						GCCTTCATGTCTTGCTCGTAA	0.592		NA											16	31					0	0	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565181	20565181	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:20565181A>G	uc002dhj.3	-	6	868	c.658T>C	c.(658-660)TTC>CTC	p.F220L	ACSM2B_uc002dhk.3_Missense_Mutation_p.F220L|ACSM2B_uc010bwf.1_Missense_Mutation_p.F220L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	220					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CCACTAGTGAAGTAGATGGCA	0.512		NA											61	119					0	0	0	0
KCTD13	253980	broad.mit.edu	37	16	29923281	29923281	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:29923281C>T	uc002duv.2	-	3	695	c.504G>A	c.(502-504)AAG>AAA	p.K168K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	168					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						GGGGCCTCACCTTGGAGGTGC	0.672		NA											14	24					0	0	0	0
ITGAM	3684	broad.mit.edu	37	16	31332573	31332573	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31332573C>A	uc002ebq.2	+	15	1817	c.1719C>A	c.(1717-1719)GGC>GGA	p.G573G	ITGAM_uc002ebr.2_Silent_p.G574G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_5'UTR|ITGAM_uc002ebs.1_5'UTR	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	573	Extracellular (Potential).|FG-GAP 7.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGATAGCAGGCTCCAAGCTCT	0.542		NA											108	260					2.13e-42	2.41e-42	1	0
ARMC5	79798	broad.mit.edu	37	16	31477249	31477249	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:31477249C>T	uc002ecc.2	+	5	2472	c.1943C>T	c.(1942-1944)TCT>TTT	p.S648F	ARMC5_uc010vfn.1_Missense_Mutation_p.S743F|ARMC5_uc010vfo.1_Missense_Mutation_p.S680F|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.S456F|ARMC5_uc002ecb.2_Missense_Mutation_p.S648F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	648							binding			pancreas(1)	1						CTGCTGCTCTCTGGGAGCCCT	0.647		NA											4	110					0	0	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639439	53639439	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:53639439G>A	uc002ehp.2	-	26	3853	c.3789C>T	c.(3787-3789)GCC>GCT	p.A1263A	RPGRIP1L_uc002eho.3_Silent_p.A1183A|RPGRIP1L_uc010vgy.1_Silent_p.A1217A|RPGRIP1L_uc010cbx.2_Silent_p.A1229A|RPGRIP1L_uc010vgz.1_Silent_p.A1217A	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	1263					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GAAACATGTCGGCAAGGTCGA	0.527		NA											36	98					0	0	0	0
WWOX	51741	broad.mit.edu	37	16	78133748	78133748	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:78133748A>T	uc002ffk.2	+	1	198	c.73A>T	c.(73-75)AGA>TGA	p.R25*	WWOX_uc010vnk.1_5'UTR|WWOX_uc002ffl.2_Nonsense_Mutation_p.R25*|WWOX_uc010che.2_Nonsense_Mutation_p.R25*|WWOX_uc002ffj.1_Nonsense_Mutation_p.R25*|WWOX_uc002ffi.1_Nonsense_Mutation_p.R25*	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	25	WW 1.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTGGGAGGAGAGAACCACCAA	0.701		NA									OREG0023952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0	0
ATMIN	23300	broad.mit.edu	37	16	81077308	81077308	+	Missense_Mutation	SNP	C	C	T	rs139034682		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:81077308C>T	uc002ffz.1	+	4	1223	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	ATMIN_uc002fga.2_Missense_Mutation_p.T244M|ATMIN_uc010vnn.1_Missense_Mutation_p.T173M|ATMIN_uc002fgb.1_Missense_Mutation_p.T244M	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	402	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0						CTAGGGAACACGTGTCAAAAG	0.403		NA											76	140					0	0	0	0
CDH15	1013	broad.mit.edu	37	16	89257810	89257810	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr16:89257810C>T	uc002fmt.2	+	9	1382	c.1305C>T	c.(1303-1305)CAC>CAT	p.H435H		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	435	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGACCCAGCACGTGCTCAGCC	0.672		NA											24	35					0	0	0	0
POLR2A	5430	broad.mit.edu	37	17	7415500	7415500	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7415500C>T	uc002ghf.3	+	26	4563	c.4329C>T	c.(4327-4329)GCC>GCT	p.A1443A		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1443					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TGGAAGCAGCCGCACACGGTG	0.617		NA											25	47					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7578419C>A	uc002gim.2	-	5	705	c.511G>T	c.(511-513)GAG>TAG	p.E171*	TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	171	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(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)		CTCACAACCTCCGTCATGTGC	0.662		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)			69	45					4.67e-28	5.21e-28	1	0
DNAH2	146754	broad.mit.edu	37	17	7734485	7734485	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:7734485C>T	uc002giu.1	+	79	12326	c.12312C>T	c.(12310-12312)GGC>GGT	p.G4104G	DNAH2_uc010cnm.1_Silent_p.G1042G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4104	TPR 4.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGCCTGGCATGGACCCCC	0.507		NA											170	429					0	0	0	0
MYH8	4626	broad.mit.edu	37	17	10295236	10295236	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:10295236G>A	uc002gmm.2	-	39	5722	c.5627C>T	c.(5626-5628)GCG>GTG	p.A1876V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1876	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTTCACCTTCGCCTGTAATTT	0.383		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				115	282					0	0	0	0
MPRIP	23164	broad.mit.edu	37	17	17079760	17079760	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:17079760A>G	uc002gqu.1	+	20	2786	c.2730A>G	c.(2728-2730)GAA>GAG	p.E910E	MPRIP_uc002gqv.1_Silent_p.E910E|MPRIP_uc002gqw.1_Silent_p.E665E|MPRIP_uc002gqx.1_Silent_p.E1139E|MPRIP_uc002gqy.1_Silent_p.E1139E|MPRIP_uc010cpl.1_Silent_p.E96E|MPRIP_uc010cpm.1_Silent_p.E96E	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	910	Potential.					cytoplasm|cytoskeleton	actin binding				0						GGGTAAAGGAATCGGAAATAC	0.532		NA											77	190					0	0	0	0
CYTSB	92521	broad.mit.edu	37	17	20109083	20109083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:20109083C>T	uc002gwq.2	+	4	1866	c.1721C>T	c.(1720-1722)ACG>ATG	p.T574M	CYTSB_uc010cqx.2_Missense_Mutation_p.T574M|CYTSB_uc002gwr.2_Missense_Mutation_p.T574M|CYTSB_uc002gws.2_Missense_Mutation_p.T574M|CYTSB_uc002gwv.2_Missense_Mutation_p.T493M|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T350M|CYTSB_uc002gwt.2_Missense_Mutation_p.T493M|CYTSB_uc002gwu.2_Missense_Mutation_p.T493M	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	574						nucleus					0						GTGGAGCAGACGGCAGAGAGC	0.463		NA											53	104					0	0	0	0
TRAF4	9618	broad.mit.edu	37	17	27075534	27075534	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:27075534C>T	uc002hcs.2	+	6	738	c.630C>T	c.(628-630)CAC>CAT	p.H210H	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	210	TRAF-type 3.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCCAGAGCCACCAGTACCAGT	0.597		NA											12	32					0	0	0	0
COL1A1	1277	broad.mit.edu	37	17	48263803	48263803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48263803C>T	uc002iqm.2	-	49	4006	c.3880G>A	c.(3880-3882)GAG>AAG	p.E1294K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1294	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGTCTCCATGTTGCAG	0.552		NA	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						50	98					0	0	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823124	48823124	+	Missense_Mutation	SNP	G	G	A	rs146274793	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:48823124G>A	uc002isr.2	+	8	854	c.737G>A	c.(736-738)CGT>CAT	p.R246H	LUC7L3_uc010wmw.1_Missense_Mutation_p.R170H|LUC7L3_uc002isq.2_Missense_Mutation_p.R246H|LUC7L3_uc002iss.2_Missense_Mutation_p.R246H	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	246	Arg/Ser-rich.|Glu-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						CGTGATGAGCGTCTAAAAAAG	0.189		NA											14	26					0	0	0	0
BCAS3	54828	broad.mit.edu	37	17	59115302	59115302	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:59115302C>A	uc002iyv.3	+	19	1969	c.1860C>A	c.(1858-1860)GGC>GGA	p.G620G	BCAS3_uc010wow.1_Silent_p.G392G|BCAS3_uc002iyu.3_Silent_p.G605G|BCAS3_uc002iyw.3_Silent_p.G601G|BCAS3_uc002iyy.3_Silent_p.G376G|BCAS3_uc002iyz.3_Silent_p.G174G|BCAS3_uc002iza.3_Silent_p.G159G	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	620						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTTGCTATGGCACCTTAGTGG	0.478		NA											252	113					8.49e-111	9.62e-111	1	0
FTSJ3	117246	broad.mit.edu	37	17	61897782	61897782	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr17:61897782C>T	uc002jbz.2	-	18	2167	c.2089G>A	c.(2089-2091)GAT>AAT	p.D697N	FTSJ3_uc002jca.2_Missense_Mutation_p.D697N	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	697					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TCCCCCTCATCCTCATTAAAT	0.413		NA											56	143					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397351	5397351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:5397351C>G	uc002kmt.1	-	18	2633	c.2547G>C	c.(2545-2547)GAG>GAC	p.E849D	EPB41L3_uc010wzh.1_Missense_Mutation_p.E680D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E627D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E518D|EPB41L3_uc002kms.1_Missense_Mutation_p.E84D|EPB41L3_uc010wze.1_Missense_Mutation_p.E154D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E146D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E121D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E241D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	849	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GCACCACCTTCTCAGTGCTAA	0.592		NA											44	69					0	0	0	0
RIOK3	8780	broad.mit.edu	37	18	21053506	21053506	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:21053506T>A	uc002kui.3	+	8	1546	c.929T>A	c.(928-930)TTC>TAC	p.F310Y	RIOK3_uc010dls.2_Missense_Mutation_p.F310Y|RIOK3_uc010xas.1_Missense_Mutation_p.F294Y|RIOK3_uc010xat.1_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	310	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGATGATTTCAGGTTTAAA	0.328		NA											22	56					0	0	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024676	55024676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr18:55024676G>A	uc002lgn.2	+	3	1192	c.835G>A	c.(835-837)GGA>AGA	p.G279R		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	279	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G279E(1)		breast(1)|skin(1)	2				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GGCTTGGCCGGGAAATATAAT	0.408		NA											57	142					0	0	0	0
DOCK6	57572	broad.mit.edu	37	19	11363491	11363491	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:11363491G>A	uc002mqs.3	-	3	317	c.276C>T	c.(274-276)TGC>TGT	p.C92C		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	92					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCGTGGTCCGGCATTCCCGGG	0.622		NA											3	44					0	0	0	0
CACNA1A	773	broad.mit.edu	37	19	13323202	13323202	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:13323202G>C	uc010dze.2	-	42	6424	c.6188C>G	c.(6187-6189)TCT>TGT	p.S2063C	CACNA1A_uc010xnd.1_Missense_Mutation_p.S768C|CACNA1A_uc002mwx.3_Missense_Mutation_p.S768C|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1588C|CACNA1A_uc002mwy.3_Missense_Mutation_p.S2062C|CACNA1A_uc002mwv.3_Missense_Mutation_p.S579C	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	2063	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGCACCTGAGAGTTAGGCTG	0.647		NA											5	36					0	0	0	0
ABHD8	79575	broad.mit.edu	37	19	17412027	17412027	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:17412027G>A	uc002ngb.3	-	2	639	c.399C>T	c.(397-399)CCC>CCT	p.P133P		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	133							hydrolase activity				0						ctgcgctgccgGGGGCCAAGC	0.507		NA											9	14					0	0	0	0
ZNF529	57711	broad.mit.edu	37	19	37038095	37038095	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:37038095A>G	uc002oeh.3	-	5	1567	c.1365T>C	c.(1363-1365)TGT>TGC	p.C455C	ZNF529_uc010xth.1_Silent_p.C455C|ZNF529_uc010xti.1_Silent_p.C437C|ZNF529_uc002oeg.3_Silent_p.C350C	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	422	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AGAACTTTCCACACTCCTTAC	0.368		NA											25	76					0	0	0	0
ZNF546	339327	broad.mit.edu	37	19	40520097	40520097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:40520097G>A	uc002oms.2	+	7	1176	c.920G>A	c.(919-921)GGG>GAG	p.G307E	ZNF546_uc002omt.2_Missense_Mutation_p.G281E	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	307	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGAATGTGGGAAAGCCTTT	0.408		NA											71	158					0	0	0	0
LILRA2	11027	broad.mit.edu	37	19	55087422	55087422	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55087422G>T	uc002qgg.3	+	6	1190	c.1101G>T	c.(1099-1101)CTG>CTT	p.L367L	LILRA2_uc010ern.2_Silent_p.L367L|LILRA2_uc002qgf.2_Silent_p.L367L|LILRA2_uc010yfe.1_Silent_p.L367L|LILRA2_uc010yff.1_Silent_p.L355L|LILRA2_uc010ero.2_Silent_p.L355L|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	367	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CACTGCATCTGAGATCAGAGC	0.587		NA											52	82					4.33e-22	4.78e-22	1	0
NCR1	9437	broad.mit.edu	37	19	55417683	55417683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:55417683G>A	uc002qib.2	+	2	99	c.61G>A	c.(61-63)GCC>ACC	p.A21T	NCR1_uc002qic.2_Missense_Mutation_p.A21T|NCR1_uc002qie.2_Missense_Mutation_p.A21T|NCR1_uc002qid.2_Missense_Mutation_p.A21T|NCR1_uc002qif.2_Missense_Mutation_p.A21T|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	21					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		GAGGATCAGCGCCCAGCAGCG	0.612		NA											32	56					0	0	0	0
OTOF	9381	broad.mit.edu	37	2	26717900	26717900	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:26717900C>T	uc002rhk.2	-	9	934	c.807G>A	c.(805-807)TTG>TTA	p.L269L		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	269	Cytoplasmic (Potential).|C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCATGTTCAAGCCCACCA	0.597		NA											36	86					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50463980	50463980	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:50463980A>T	uc010fbp.2	-	2	1195	c.388T>A	c.(388-390)TTG>ATG	p.L130M	NRXN1_uc002rxb.3_Missense_Mutation_p.L837M|NRXN1_uc010fbq.2_Missense_Mutation_p.L1205M|NRXN1_uc002rxe.3_Missense_Mutation_p.L1165M|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	130	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCGCACCAATACGGCTTCT	0.438		NA											27	74					0	0	0	0
MAT2A	4144	broad.mit.edu	37	2	85769770	85769770	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:85769770G>A	uc002spr.2	+	7	974	c.851G>A	c.(850-852)GGA>GAA	p.G284E	MAT2A_uc010ysr.1_Missense_Mutation_p.G284E|MAT2A_uc010fgk.2_Missense_Mutation_p.G258E|MAT2A_uc010fgl.2_Missense_Mutation_p.G221E	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	284					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCCTTTTCAGGAAAGGATTAT	0.493		NA											41	76					0	0	0	0
TEKT4	150483	broad.mit.edu	37	2	95539278	95539278	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:95539278T>A	uc002stw.1	+	2	605	c.512T>A	c.(511-513)ATC>AAC	p.I171N	uc002stv.1_RNA|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	171	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GCCGAGCTCATCCGGAACATT	0.607		NA											31	63					0	0	0	0
DBI	1622	broad.mit.edu	37	2	120128364	120128364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:120128364G>A	uc002tlv.2	+	3	300	c.176G>A	c.(175-177)TGG>TAG	p.W59*	DBI_uc010yyh.1_Nonsense_Mutation_p.W76*|DBI_uc010yyi.1_Nonsense_Mutation_p.W76*|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Nonsense_Mutation_p.W101*|DBI_uc010yyl.1_Nonsense_Mutation_p.W76*|DBI_uc010yym.1_Nonsense_Mutation_p.W69*|DBI_uc010yyn.1_Nonsense_Mutation_p.W76*|DBI_uc002tlw.2_Nonsense_Mutation_p.W76*|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Nonsense_Mutation_p.W60*	NM_001079862	NP_001073331	P07108	ACBP_HUMAN	diazepam binding inhibitor isoform 3	59	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding				0						TGGGATGCCTGGAATGAGCTG	0.423		NA											15	48					0	0	0	0
R3HDM1	23518	broad.mit.edu	37	2	136418927	136418927	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:136418927C>T	uc002tuo.2	+	18	2381	c.2011C>T	c.(2011-2013)CTA>TTA	p.L671L	R3HDM1_uc010fni.2_Silent_p.L670L|R3HDM1_uc002tup.2_Silent_p.L616L|R3HDM1_uc010zbh.1_Silent_p.L419L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	671							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAATTCACATCTAAACCAACC	0.458		NA											55	110					0	0	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843742	160843742	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:160843742C>A	uc002ube.1	-	12	2169	c.1962G>T	c.(1960-1962)GAG>GAT	p.E654D	PLA2R1_uc010zcp.1_Missense_Mutation_p.E654D|PLA2R1_uc002ubf.2_Missense_Mutation_p.E654D	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	654	Extracellular (Potential).				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TCTCTTCATACTCTGCTTTTT	0.502		NA											57	112					2.12e-23	2.35e-23	1	0
GRB14	2888	broad.mit.edu	37	2	165378524	165378524	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:165378524G>C	uc002ucl.2	-	6	1323	c.782C>G	c.(781-783)TCT>TGT	p.S261C	GRB14_uc010zcv.1_Missense_Mutation_p.S174C|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	261	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						ATATAAACCAGATCTTCTTAG	0.313		NA											40	107					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168067394	168067394	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:168067394T>A	uc002udx.2	+	3	730	c.712T>A	c.(712-714)TTC>ATC	p.F238I	XIRP2_uc010fpn.2_Missense_Mutation_p.F271I|XIRP2_uc010fpo.2_Missense_Mutation_p.F238I|XIRP2_uc010fpp.2_Missense_Mutation_p.F238I|XIRP2_uc002udy.2_Missense_Mutation_p.F63I|XIRP2_uc010fpq.2_Missense_Mutation_p.F16I|XIRP2_uc010fpr.2_Missense_Mutation_p.F16I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	63					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTGCCGCAGCTTCTCTGCTAA	0.512		NA											32	99					0	0	0	0
BARD1	580	broad.mit.edu	37	2	215645700	215645700	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:215645700G>T	uc002veu.2	-	4	1033	c.898C>A	c.(898-900)CCT>ACT	p.P300T	BARD1_uc010zjm.1_Missense_Mutation_p.P156T	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	300					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTTCTCAGGAGTCACTACT	0.383		NA							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				46	138					3.55e-21	3.91e-21	1	0
ISM1	140862	broad.mit.edu	37	20	13251361	13251361	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:13251361G>C	uc010gce.1	+	2	355	c.349G>C	c.(349-351)GAT>CAT	p.D117H	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	117						extracellular region					0						TTCCAAAGCTGATATCAATGG	0.443		NA											7	45					0	0	0	0
PYGB	5834	broad.mit.edu	37	20	25262777	25262777	+	Silent	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:25262777C>A	uc002wup.2	+	12	1621	c.1512C>A	c.(1510-1512)ATC>ATA	p.I504I		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	504					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CCGATACCATCGTGGAGGTGA	0.622		NA											5	47					0.000673444	0.000691547	1	0
TTLL9	164395	broad.mit.edu	37	20	30497542	30497542	+	Silent	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:30497542G>T	uc010gdx.1	+	6	574	c.321G>T	c.(319-321)CTG>CTT	p.L107L	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	107	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCACCCAGCTGACCCGGAAGA	0.632		NA											16	53					1.57e-10	1.68e-10	1	0
KCNS1	3787	broad.mit.edu	37	20	43726837	43726837	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:43726837C>T	uc002xnc.2	-	4	973	c.576G>A	c.(574-576)GCG>GCA	p.A192A	KCNS1_uc002xnd.2_Silent_p.A192A	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	192	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CGCCATAGCGCGCCAGTTCTC	0.716		NA											7	24					0	0	0	0
EMID1	129080	broad.mit.edu	37	22	29654896	29654896	+	Missense_Mutation	SNP	G	G	A	rs138347786		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:29654896G>A	uc003aen.2	+	15	1364	c.1289G>A	c.(1288-1290)CGG>CAG	p.R430Q	EMID1_uc003aem.2_Missense_Mutation_p.R432Q|EMID1_uc003aeo.2_Missense_Mutation_p.R434Q|EMID1_uc003aep.2_Missense_Mutation_p.R411Q	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	430						collagen					0						ACCAACTACCGGATCGTGGCC	0.716		NA											23	47					0	0	0	0
LARGE	9215	broad.mit.edu	37	22	34046371	34046371	+	Silent	SNP	C	C	A	rs114558328	by1000genomes	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:34046371C>A	uc003and.3	-	4	969	c.390G>T	c.(388-390)CCG>CCT	p.P130P	LARGE_uc003ane.3_Silent_p.P130P|LARGE_uc010gwp.2_Silent_p.P130P|LARGE_uc011ame.1_Silent_p.P62P|LARGE_uc011amf.1_Silent_p.P130P	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	130	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				TCTCCACGACCGGCTGCTGCC	0.597		NA											52	143					2.17e-29	2.42e-29	1	0
CSF2RB	1439	broad.mit.edu	37	22	37325494	37325494	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:37325494T>A	uc003aqa.3	+	5	659	c.442T>A	c.(442-444)TTC>ATC	p.F148I	CSF2RB_uc003aqc.3_Missense_Mutation_p.F148I	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	148	Fibronectin type-III 1.|Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CCAGGACCACTTCCTGCTGAC	0.637		NA											99	184					0	0	0	0
MEI1	150365	broad.mit.edu	37	22	42180639	42180639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr22:42180639C>T	uc003baz.1	+	26	3222	c.3197C>T	c.(3196-3198)GCC>GTC	p.A1066V	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.A452V|MEI1_uc003bbc.1_Missense_Mutation_p.A434V|MEI1_uc010gym.1_Missense_Mutation_p.A399V|MEI1_uc003bbd.1_Missense_Mutation_p.A309V|MEI1_uc010gyn.1_Intron|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.A80V|MEI1_uc010gyo.1_Intron|MEI1_uc003bbf.2_Missense_Mutation_p.A80V|MEI1_uc003bbg.2_Missense_Mutation_p.A80V	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1066							binding			central_nervous_system(1)|skin(1)	2						CTGCGGACAGCCCTGCGACAA	0.597		NA											3	60					0	0	0	0
CNOT10	25904	broad.mit.edu	37	3	32750219	32750219	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:32750219T>A	uc003cfc.1	+	4	592	c.337T>A	c.(337-339)TAC>AAC	p.Y113N	CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Missense_Mutation_p.Y113N|CNOT10_uc003cfe.1_Missense_Mutation_p.Y113N|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Y173N|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	113					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						CAGCATGTTGTACTATAATCA	0.348		NA											49	47					0	0	0	0
LIMD1	8994	broad.mit.edu	37	3	45636953	45636953	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:45636953A>G	uc003coq.2	+	1	631	c.582A>G	c.(580-582)CCA>CCG	p.P194P		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	194					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTGACAAACCAGGAGTGTCCC	0.607		NA											48	49					0	0	0	0
DTX3L	151636	broad.mit.edu	37	3	122287599	122287599	+	Silent	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:122287599T>A	uc003efk.2	+	3	752	c.663T>A	c.(661-663)TCT>TCA	p.S221S	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	221					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		GCTGCATTTCTCCTTCTGAAC	0.413		NA											26	47					0	0	0	0
DNAJC13	23317	broad.mit.edu	37	3	132215495	132215495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:132215495C>T	uc003eor.2	+	36	4209	c.4144C>T	c.(4144-4146)CGT>TGT	p.R1382C		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1382							heat shock protein binding			ovary(1)|breast(1)	2						CCTCTTCAACCGTCATAAAGA	0.348		NA											22	170					0	0	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135797293	135797293	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:135797293C>A	uc003eqv.1	+	7	3194	c.2629C>A	c.(2629-2631)CAA>AAA	p.Q877K	PPP2R3A_uc011blz.1_Missense_Mutation_p.Q141K|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Q256K|PPP2R3A_uc011bma.1_RNA	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	877					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CAACTTTTTGCAAGTATGCCT	0.254		NA											22	80					0.00229938	0.00234856	1	0
ARL14	80117	broad.mit.edu	37	3	160395542	160395542	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:160395542C>T	uc003fdq.2	+	1	595	c.408C>T	c.(406-408)ATC>ATT	p.I136I		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	136					small GTPase mediated signal transduction	intracellular	GTP binding				0			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CTGAGGACATCACCAGAATGT	0.488		NA											34	99					0	0	0	0
PLD1	5337	broad.mit.edu	37	3	171406608	171406608	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:171406608T>C	uc003fhs.2	-	14	1513	c.1397A>G	c.(1396-1398)AAG>AGG	p.K466R	PLD1_uc003fht.2_Missense_Mutation_p.K466R	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	466	PLD phosphodiesterase 1.|Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GATGACAAGCTTCTCATGGTG	0.498		NA											20	109					0	0	0	0
NLGN1	22871	broad.mit.edu	37	3	173993199	173993199	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:173993199C>T	uc003fio.1	+	5	1164	c.741C>T	c.(739-741)TTC>TTT	p.F247F	NLGN1_uc010hww.1_Silent_p.F287F|NLGN1_uc003fip.1_Silent_p.F247F	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	264	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)			ACATTGGATTCTTTGGTGGTG	0.438		NA											50	205					0	0	0	0
OSTN	344901	broad.mit.edu	37	3	190930421	190930421	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:190930421G>C	uc011bsn.1	+	1	100	c.100G>C	c.(100-102)GAG>CAG	p.E34Q		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	34					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AACAACAACAGAGGTAATGGA	0.343		NA											24	61					0	0	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273119	2273119	+	Missense_Mutation	SNP	G	G	T	rs146945400		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:2273119G>T	uc003gex.1	-	12	2770	c.2451C>A	c.(2449-2451)GAC>GAA	p.D817E	ZFYVE28_uc011bvk.1_Missense_Mutation_p.D747E|ZFYVE28_uc011bvl.1_Missense_Mutation_p.D787E|ZFYVE28_uc003gew.1_Missense_Mutation_p.D703E	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	817	FYVE-type.				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						CACAGGCCTCGTCTGGCACCC	0.662		NA											6	16					1.5e-05	1.56e-05	1	0
TADA2B	93624	broad.mit.edu	37	4	7056307	7056307	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:7056307C>G	uc003gjw.3	+	2	940	c.789C>G	c.(787-789)TAC>TAG	p.Y263*	TADA2B_uc010idi.2_Nonsense_Mutation_p.Y188*	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GGCCGCTGTACCAGTTCATGT	0.527		NA											15	56					0	0	0	0
PHOX2B	8929	broad.mit.edu	37	4	41749528	41749528	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:41749528G>A	uc003gwf.3	-	2	627	c.267C>T	c.(265-267)CAC>CAT	p.H89H		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	89					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						TGAGGCCGCCGTGGTCCGTGA	0.577		NA	Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				53	147					0	0	0	0
TXK	7294	broad.mit.edu	37	4	48096216	48096216	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:48096216G>T	uc003gxx.3	-	8	673	c.587C>A	c.(586-588)ACG>AAG	p.T196K	TXK_uc003gxy.1_Missense_Mutation_p.T196K	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGCAGCCTCCGTACTTCTACA	0.373		NA											20	63					1.02e-10	1.09e-10	1	0
ANK2	287	broad.mit.edu	37	4	114264272	114264272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:114264272G>T	uc003ibe.3	+	34	4322	c.4222G>T	c.(4222-4224)GAA>TAA	p.E1408*	ANK2_uc003ibd.3_Nonsense_Mutation_p.E1399*|ANK2_uc003ibf.3_Nonsense_Mutation_p.E1408*|ANK2_uc011cgc.1_Nonsense_Mutation_p.E584*|ANK2_uc003ibg.3_Nonsense_Mutation_p.E403*|ANK2_uc003ibh.3_Nonsense_Mutation_p.E82*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1423*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1375					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCTTCAAAGAAAATAGACT	0.338		NA											42	91					1.57e-19	1.71e-19	1	0
ADAD1	132612	broad.mit.edu	37	4	123305081	123305081	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:123305081A>G	uc003ieo.2	+	5	721	c.489A>G	c.(487-489)CTA>CTG	p.L163L	ADAD1_uc003iep.2_Silent_p.L163L|ADAD1_uc003ieq.2_Silent_p.L145L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	163	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						ATGAGCTTCTACAACTGGATG	0.358		NA											28	84					0	0	0	0
ZDHHC11	79844	broad.mit.edu	37	5	801279	801279	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:801279C>T	uc011cma.1	-	12	1566	c.1182G>A	c.(1180-1182)GGG>GGA	p.G394G	ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	394						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTGTTGCAGCCTGTTTGCAA	0.383		NA											33	174					0	0	0	0
IRX2	153572	broad.mit.edu	37	5	2749083	2749083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:2749083C>T	uc003jda.2	-	3	981	c.739G>A	c.(739-741)GAC>AAC	p.D247N	IRX2_uc003jdb.2_Missense_Mutation_p.D247N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CACAGGGGGTCCCCGGCGCGG	0.706		NA											22	118					0	0	0	0
FAM134B	54463	broad.mit.edu	37	5	16616784	16616784	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:16616784G>A	uc003jfs.2	-	1	335	c.297C>T	c.(295-297)TTC>TTT	p.F99F		NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	99	Helical; (Potential).				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3						TGGCAGCGACGAAGCCGAGCA	0.592		NA											7	31					0	0	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576201	33576201	+	Silent	SNP	G	G	A	rs141717162		TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:33576201G>A	uc003jia.1	-	19	4093	c.3930C>T	c.(3928-3930)AAC>AAT	p.N1310N	ADAMTS12_uc010iuq.1_Silent_p.N1225N	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1310	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGCCGTGGCCGTTTGTGAGCT	0.468		NA								HNSCC(64;0.19)			77	396					0	0	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840396	130840396	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:130840396C>T	uc003kvn.1	-	11	1383	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E443K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E393K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E393K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E393K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E110K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E393K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E393K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	393	cNMP.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATTTCTCCCTCTTCCTCAACT	0.413		NA											35	87					0	0	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252398	145252398	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:145252398G>A	uc003lns.1	-	1	134	c.134C>T	c.(133-135)CCA>CTA	p.P45L		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	45											0						TTCCTCCTTTGGTGACTCTAA	0.498		NA											74	108					0	0	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056369	26056369	+	Silent	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:26056369C>G	uc003nfw.2	-	1	331	c.288G>C	c.(286-288)ACG>ACC	p.T96T		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						CGGTGCCTTTCGTTTGCACCA	0.532		NA											50	241					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28269361	28269361	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:28269361A>T	uc003nky.2	+	7	2100	c.1730A>T	c.(1729-1731)CAG>CTG	p.Q577L	PGBD1_uc003nkz.2_Missense_Mutation_p.Q577L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	577					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ACAACCACACAGGGTTATCTG	0.388		NA											87	136					0	0	0	0
TULP1	7287	broad.mit.edu	37	6	35466208	35466208	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:35466208C>T	uc003okv.3	-	15	1537	c.1525G>A	c.(1525-1527)GTG>ATG	p.V509M	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.V456M	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	509					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						TCCTCCGCCACGCGGCCGAAC	0.667		NA											10	40					0	0	0	0
AARS2	57505	broad.mit.edu	37	6	44275034	44275034	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:44275034A>T	uc010jza.1	-	6	995	c.992T>A	c.(991-993)CTC>CAC	p.L331H	SPATS1_uc003oxg.2_RNA|TMEM151B_uc003oxf.2_3'UTR	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	331					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCAGACACTGAGTGTGCGGAT	0.642		NA											11	23					0	0	0	0
TINAG	27283	broad.mit.edu	37	6	54254654	54254654	+	Silent	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:54254654A>G	uc003pcj.2	+	11	1508	c.1362A>G	c.(1360-1362)GTA>GTG	p.V454V	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	454					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTCGAGGAGTAAATGAGTCCG	0.403		NA											7	274					0	0	0	0
DST	667	broad.mit.edu	37	6	56394429	56394429	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:56394429C>T	uc003pdf.2	-	60	11083	c.11055G>A	c.(11053-11055)GAG>GAA	p.E3685E	DST_uc003pcz.3_Silent_p.E3507E|DST_uc011dxj.1_Silent_p.E3536E|DST_uc011dxk.1_Silent_p.E3547E|DST_uc003pcy.3_Silent_p.E3181E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5593	Spectrin 9.				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)			TCTCTTGAATCTCAATGTACC	0.433		NA											74	215					0	0	0	0
DDX43	55510	broad.mit.edu	37	6	74116174	74116174	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:74116174C>T	uc003pgw.2	+	7	1239	c.895C>T	c.(895-897)CCT>TCT	p.P299S	DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						TTATTTAATGCCTGGATTTAT	0.378		NA											33	87					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129674411	129674411	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr6:129674411C>T	uc003qbn.2	+	32	4731	c.4626C>T	c.(4624-4626)GTC>GTT	p.V1542V	LAMA2_uc003qbo.2_Silent_p.V1542V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1542	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGACCCTGTCACAGGATTCT	0.597		NA											60	73					0	0	0	0
CRHR2	1395	broad.mit.edu	37	7	30704714	30704714	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:30704714A>G	uc003tbn.2	-	5	759	c.515T>C	c.(514-516)GTT>GCT	p.V172A	CRHR2_uc010kvw.1_Missense_Mutation_p.V172A|CRHR2_uc010kvx.1_Missense_Mutation_p.V171A|CRHR2_uc010kvy.1_Missense_Mutation_p.V8A|CRHR2_uc003tbo.2_Missense_Mutation_p.V158A|CRHR2_uc003tbp.2_Missense_Mutation_p.V199A	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	172	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						TTCATGGTCAACGAGCTGCAG	0.562		NA											4	99					0	0	0	0
GNAT3	346562	broad.mit.edu	37	7	80091853	80091853	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:80091853C>A	uc011kgu.1	-	6	685	c.685G>T	c.(685-687)GCC>TCC	p.A229S	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	229					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						ATGTCATAGGCACTAAGTGCA	0.398		NA											8	112					2.18e-05	2.26e-05	1	0
PIP	5304	broad.mit.edu	37	7	142836666	142836666	+	Silent	SNP	T	T	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr7:142836666T>G	uc003wcf.1	+	4	408	c.372T>G	c.(370-372)CCT>CCG	p.P124P		NM_002652	NP_002643	P12273	PIP_HUMAN	prolactin-induced protein precursor	124						extracellular region	actin binding			ovary(1)	1	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GCATCTGCCCTGATGATGCTG	0.468		NA											104	150					0	0	0	0
HGSNAT	138050	broad.mit.edu	37	8	43046738	43046738	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:43046738C>A	uc003xpx.3	+	12	1298	c.1250C>A	c.(1249-1251)ACT>AAT	p.T417N		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	445	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGTGCCCTACGTAAGCGAAC	0.597		NA											38	174					5.78e-17	6.29e-17	1	0
MCM4	4173	broad.mit.edu	37	8	48874211	48874211	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:48874211T>C	uc003xqk.1	+	3	301	c.206T>C	c.(205-207)TTT>TCT	p.F69S	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.F69S|MCM4_uc011ldi.1_Missense_Mutation_p.F69S|MCM4_uc010lxw.1_Intron	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	69					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACGTGCTGTTTTCCAGCCCT	0.557		NA											18	174					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55539813	55539813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:55539813C>A	uc003xsd.1	+	4	3519	c.3371C>A	c.(3370-3372)TCA>TAA	p.S1124*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1124					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATGTAATTCATCCACTAAT	0.418		NA											39	92					9.89e-21	1.09e-20	1	0
VPS13B	157680	broad.mit.edu	37	8	100533240	100533240	+	Splice_Site	SNP	T	T	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:100533240T>A	uc003yiv.2	+	30	4931	c.4820_splice	c.e30+2	p.Q1607_splice	VPS13B_uc003yiw.2_Splice_Site_p.Q1582_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5						protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTTACCAGTAAGTTTATTT	0.393		NA											70	100					0	0	0	0
MED30	90390	broad.mit.edu	37	8	118552148	118552148	+	Silent	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:118552148G>A	uc003yoj.2	+	4	619	c.468G>A	c.(466-468)CTG>CTA	p.L156L	MED30_uc011lib.1_Silent_p.L121L	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	156	Potential.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			ATCAACAGCTGAAACAAATTA	0.303		NA											18	40					0	0	0	0
RUSC2	9853	broad.mit.edu	37	9	35555657	35555657	+	Missense_Mutation	SNP	G	G	A	rs140042742	byFrequency	TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:35555657G>A	uc003zww.2	+	3	2870	c.2615G>A	c.(2614-2616)CGG>CAG	p.R872Q	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R872Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	872						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTGGCCCGGGGAGGTGGT	0.632		NA											33	58					0	0	0	0
GDA	9615	broad.mit.edu	37	9	74863197	74863197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:74863197G>A	uc004aiq.2	+	14	1487	c.1304G>A	c.(1303-1305)CGA>CAA	p.R435Q	GDA_uc011lse.1_Missense_Mutation_p.R361Q|GDA_uc011lsf.1_Missense_Mutation_p.R361Q|GDA_uc004air.2_Missense_Mutation_p.R435Q|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.R357Q	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	435					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGATGATCGAAATATTGAA	0.403		NA											52	124					0	0	0	0
SETX	23064	broad.mit.edu	37	9	135153533	135153533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:135153533C>G	uc004cbk.2	-	21	6949	c.6766G>C	c.(6766-6768)GTT>CTT	p.V2256L	SETX_uc004cbj.2_Missense_Mutation_p.V1875L|SETX_uc010mzt.2_Missense_Mutation_p.V1875L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2256					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTACTGAACAGTGAGCTGT	0.428		NA											58	254					0	0	0	0
C9orf37	85026	broad.mit.edu	37	9	140510521	140510521	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:140510521A>G	uc004cnz.2	-	3	715	c.131T>C	c.(130-132)ATA>ACA	p.I44T	EHMT1_uc004coa.2_5'Flank|EHMT1_uc004cob.1_5'Flank|EHMT1_uc011mfc.1_5'Flank	NM_032937	NP_116326	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	44										breast(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TACCTTATCTATAAAATGCAC	0.274		NA											11	29					0	0	0	0
PDZD11	51248	broad.mit.edu	37	X	69507978	69507978	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:69507978A>C	uc004dyd.1	-	4	319	c.217T>G	c.(217-219)TTC>GTC	p.F73V	KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Missense_Mutation_p.F105V|KIF4A_uc004dyf.1_5'Flank	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	73	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding				0						TTGGAGATGAAGATGCCTAGC	0.463		NA											15	19					0	0	0	0
SLC6A8	6535	broad.mit.edu	37	X	152956769	152956769	+	Silent	SNP	C	C	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:152956769C>T	uc004fib.3	+	3	683	c.405C>T	c.(403-405)TAC>TAT	p.Y135Y	SLC6A8_uc004fic.3_Silent_p.Y135Y|SLC6A8_uc011myx.1_Silent_p.Y20Y|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Silent_p.Y20Y	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	135	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCTGGGCTACGCCTCCATGG	0.602		NA											3	25					0	0	0	0
LRRC40	55631	broad.mit.edu	37	1	70614215	70614215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr1:70614215delT	uc001der.1	-	14	1710	c.1658delA	c.(1657-1659)GACfs	p.D553fs		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	553	LRR 19.									ovary(1)	1						TTGTAAGAGGTCATTATTTTG	0.353		NA											133	279	---	---	---	---	NA	NA	NA	NA
SPRYD5	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr11:55653610delA	uc010rip.1	+	3	515	c.423delA	c.(421-423)CTAfs	p.L141fs	SPRYD5_uc010riq.1_5'UTR	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	141						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				AGGAGCTCCTAAAAAAAATGC	0.403		NA											19	82	---	---	---	---	NA	NA	NA	NA
ZNF549	256051	broad.mit.edu	37	19	58048899	58048900	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr19:58048899_58048900delCT	uc002qpb.1	+	4	776_777	c.527_528delCT	c.(526-528)CCTfs	p.P176fs	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Frame_Shift_Del_p.P163fs	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCAAAATTCCTCTGTCAGACA	0.475		NA											27	59	---	---	---	---	NA	NA	NA	NA
ZFP36L2	678	broad.mit.edu	37	2	43452301	43452302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr2:43452301_43452302insT	uc002rsv.3	-	2	932_933	c.641_642insA	c.(640-642)TTCfs	p.F214fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	214	C3H1-type 2.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGTTGTGGATGAAGTGGCAGCG	0.559		NA											11	21	---	---	---	---	NA	NA	NA	NA
EEF1A2	1917	broad.mit.edu	37	20	62126260	62126264	+	Frame_Shift_Del	DEL	TTCCT	TTCCT	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr20:62126260_62126264delTTCCT	uc002yfd.1	-	3	616_620	c.515_519delAGGAA	c.(514-519)AAGGAAfs	p.K172fs	EEF1A2_uc002yfe.1_Frame_Shift_Del_p.K172fs|EEF1A2_uc010gkg.1_Frame_Shift_Del_p.K172fs	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	172_173						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGCGCTGACTTCCTTGACGATCTC	0.605		NA											14	147	---	---	---	---	NA	NA	NA	NA
TGFBR2	7048	broad.mit.edu	37	3	30691918	30691920	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:30691918_30691920delTGA	uc003ceo.2	+	3	802_804	c.420_422delTGA	c.(418-423)TCTGAT>TCT	p.D141del	TGFBR2_uc003cen.2_In_Frame_Del_p.D166del	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	141	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						CCTGTAGCTCTGATGAGTGCAAT	0.419		NA											61	101	---	---	---	---	NA	NA	NA	NA
C3orf52	79669	broad.mit.edu	37	3	111812254	111812260	+	Frame_Shift_Del	DEL	AAGATGC	AAGATGC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr3:111812254_111812260delAAGATGC	uc003dyq.3	+	2	259_265	c.186_192delAAGATGC	c.(184-192)GGAAGATGCfs	p.G62fs	C3orf52_uc011bhs.1_Frame_Shift_Del_p.G62fs|C3orf52_uc011bht.1_Frame_Shift_Del_p.G62fs	NM_024616	NP_078892	Q5BVD1	TTMP_HUMAN	TPA-induced transmembrane protein	62_64						endoplasmic reticulum membrane|integral to membrane					0						ATGTGGTTGGAAGATGCAAACTGTGGA	0.435		NA											46	170	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187549454	187549454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187549454delG	uc003izf.2	-	9	4852	c.4664delC	c.(4663-4665)ACGfs	p.T1555fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1555	Extracellular (Potential).|Cadherin 13.				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						GTGGTCATTCGTGTCGCTGAC	0.502		NA								HNSCC(5;0.00058)			15	24	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187557332	187557333	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr4:187557332_187557333insA	uc003izf.2	-	6	4217_4218	c.4029_4030insT	c.(4027-4032)ATTGAAfs	p.I1343fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1343_1344	Extracellular (Potential).|Cadherin 11.				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						GAGATCCATTCAATATGGAGTC	0.441		NA								HNSCC(5;0.00058)			35	81	---	---	---	---	NA	NA	NA	NA
FAT2	2196	broad.mit.edu	37	5	150924382	150924382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr5:150924382delA	uc003lue.3	-	9	6319	c.6306delT	c.(6304-6306)AATfs	p.N2102fs	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2102	Extracellular (Potential).|Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAACAGCCCCATTTGTCCCCA	0.428		NA											86	90	---	---	---	---	NA	NA	NA	NA
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr8:124384892_124384893insT	uc003yqh.3	-	3	462_463	c.354_355insA	c.(352-357)AAAGAAfs	p.K118fs	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Frame_Shift_Ins_p.K118fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118_119					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)			CTGTGCTCTTCTTTTTTTTTAT	0.198		NA											21	260	---	---	---	---	NA	NA	NA	NA
C9orf117	286207	broad.mit.edu	37	9	130475482	130475482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chr9:130475482delT	uc004brn.1	+	8	1528	c.1488delT	c.(1486-1488)CCTfs	p.P496fs	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	496											0						ACAGCAGCCCTGAGGTGAGGG	0.408		NA											34	47	---	---	---	---	NA	NA	NA	NA
FAM120C	54954	broad.mit.edu	37	X	54209173	54209190	+	In_Frame_Del	DEL	CAGCGCTGACAAGTAGCC	CAGCGCTGACAAGTAGCC	-			TCGA-CN-4731-01A-01D-1434-08	TCGA-CN-4731-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	31ffd2d8-ee97-4002-9737-08c044878ace	ebb2ea32-6180-4d55-9dbf-740affddc084	g.chrX:54209173_54209190delCAGCGCTGACAAGTAGCC	uc004dsz.3	-	1	525_542	c.442_459delGGCTACTTGTCAGCGCTG	c.(442-459)GGCTACTTGTCAGCGCTGdel	p.GYLSAL148del	FAM120C_uc011moh.1_In_Frame_Del_p.GYLSAL148del|FAM120C_uc004dta.2_In_Frame_Del_p.GYLSAL148del	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	148_153										ovary(1)|central_nervous_system(1)	2						AAGCCTGGCACAGCGCTGACAAGTAGCCCAGCATGGCG	0.711		NA											7	18	---	---	---	---	NA	NA	NA	NA
