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
FBXO2	26232	broad.mit.edu	37	1	11708856	11708856	+	Silent	SNP	C	C	T	rs141266599	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:11708856C>T	uc001asj.2	-	6	1128	c.786G>A	c.(784-786)CCG>CCA	p.P262P	FBXO2_uc009vna.2_Silent_p.P265P	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	F-box only protein 2	262	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity				0	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGACGCCCGGCCCGTAGT	0.672		NA											8	93					0	0	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509200	156509200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156509200G>A	uc001fpf.2	-	25	3097	c.3022C>T	c.(3022-3024)CAG>TAG	p.Q1008*		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1008	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGAACAGCTGGAGCAGGAGA	0.517		NA											7	19					0	0	0	0
IQGAP3	128239	broad.mit.edu	37	1	156513967	156513967	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156513967G>A	uc001fpf.2	-	21	2512	c.2437C>T	c.(2437-2439)CGT>TGT	p.R813C		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	813	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTGCAGACGCCTCAGGTAT	0.592		NA											16	89					0	0	0	0
RSU1	6251	broad.mit.edu	37	10	16794565	16794565	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr10:16794565G>A	uc001iok.2	-	6	873	c.571C>T	c.(571-573)CGC>TGC	p.R191C	RSU1_uc001iol.2_Missense_Mutation_p.R191C|RSU1_uc001iom.2_Missense_Mutation_p.R138C|RSU1_uc001ion.2_Missense_Mutation_p.R191C	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	191	LRR 7.				cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		ACGGTGAGGCGGTTCCCCTGA	0.463		NA											21	84					0	0	0	0
OR52J3	119679	broad.mit.edu	37	11	5068241	5068241	+	Silent	SNP	C	C	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:5068241C>G	uc010qyv.1	+	1	486	c.486C>G	c.(484-486)GTC>GTG	p.V162V		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCCATGGTCTATCTTATCT	0.453		NA											16	35					0	0	0	0
OR8J1	219477	broad.mit.edu	37	11	56128083	56128083	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:56128083G>A	uc010rjh.1	+	1	361	c.361G>A	c.(361-363)GAC>AAC	p.D121N		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GATGGCCTATGACCGCTATGT	0.488		NA											10	80					0	0	0	0
MYO7A	4647	broad.mit.edu	37	11	76872053	76872053	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:76872053A>G	uc001oyb.2	+	12	1507	c.1235A>G	c.(1234-1236)GAC>GGC	p.D412G	MYO7A_uc010rsl.1_Missense_Mutation_p.D412G|MYO7A_uc010rsm.1_Missense_Mutation_p.D401G|MYO7A_uc001oyc.2_Missense_Mutation_p.D412G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	412	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						TGGATTGTGGACAAGATCAAC	0.582		NA											4	16					0	0	0	0
NARS2	79731	broad.mit.edu	37	11	78277240	78277240	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:78277240C>T	uc001ozi.2	-	4	827	c.451G>A	c.(451-453)GTT>ATT	p.V151I	NARS2_uc010rsq.1_5'UTR	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	151					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAACCCAGAACGTTAGTCCTA	0.393		NA											13	63					0	0	0	0
A2ML1	144568	broad.mit.edu	37	12	8994102	8994102	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr12:8994102C>T	uc001quz.3	+	11	1316	c.1218C>T	c.(1216-1218)TCC>TCT	p.S406S	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	250						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGGAGACATCCGGTTGGAATG	0.473		NA											20	50					0	0	0	0
CPNE6	9362	broad.mit.edu	37	14	24545396	24545396	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:24545396G>A	uc001wll.2	+	11	1062	c.963G>A	c.(961-963)AGG>AGA	p.R321R	CPNE6_uc010tnv.1_Silent_p.R376R|CPNE6_uc001wlm.2_Silent_p.R146R|CPNE6_uc001wln.2_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	321	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		GGGACCCGAGGAGCAGCCAGT	0.627		NA											11	53					0	0	0	0
DENND4A	10260	broad.mit.edu	37	15	65959893	65959893	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr15:65959893T>A	uc002aph.2	-	28	5381	c.5003A>T	c.(5002-5004)CAT>CTT	p.H1668L	DENND4A_uc002api.2_Missense_Mutation_p.H1711L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AACAATTGGATGATGGTCCAC	0.388		NA											12	55					0	0	0	0
CDH13	1012	broad.mit.edu	37	16	83813622	83813622	+	Silent	SNP	C	C	T	rs151311546	by1000genomes	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr16:83813622C>T	uc002fgx.2	+	12	1851	c.1731C>T	c.(1729-1731)GAC>GAT	p.D577D	CDH13_uc010vns.1_Silent_p.D624D|CDH13_uc010vnt.1_Silent_p.D323D|CDH13_uc010vnu.1_Silent_p.D538D	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	577	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGGAGGACGTGAATGACA	0.493		NA											8	29					0	0	0	0
SOCS6	9306	broad.mit.edu	37	18	67992652	67992652	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr18:67992652G>A	uc002lkr.1	+	2	1064	c.748G>A	c.(748-750)GTC>ATC	p.V250I	SOCS6_uc010dqq.2_Missense_Mutation_p.V250I	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	250					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TCCCATGGAAGTCTCTGCGGT	0.537		NA											18	81					0	0	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219650	4219650	+	Silent	SNP	A	A	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:4219650A>T	uc010dtt.1	+	19	3342	c.3066A>T	c.(3064-3066)ACA>ACT	p.T1022T		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1022	Potential.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCTGGCCACAGCAGAGCAGC	0.652		NA											9	68					0	0	0	0
FBN3	84467	broad.mit.edu	37	19	8152012	8152012	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:8152012C>T	uc002mjf.2	-	53	6724	c.6703G>A	c.(6703-6705)GTC>ATC	p.V2235I	FBN3_uc002mje.2_Missense_Mutation_p.V74I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2235	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGGGGACAGACGCACGCGAAG	0.627		NA											9	58					0	0	0	0
ZNF85	7639	broad.mit.edu	37	19	21132642	21132642	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:21132642T>C	uc002npg.3	+	4	1449	c.1322T>C	c.(1321-1323)CTT>CCT	p.L441P	ZNF85_uc010ecn.2_Missense_Mutation_p.L376P|ZNF85_uc010eco.2_Missense_Mutation_p.L389P|ZNF85_uc002npi.2_Missense_Mutation_p.L382P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	441	C2H2-type 11; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TCCTCAAAACTTACTGAACAT	0.323		NA											3	20					0	0	0	0
RPIA	22934	broad.mit.edu	37	2	89035244	89035244	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:89035244G>A	uc002ste.2	+	6	627	c.586G>A	c.(586-588)GCT>ACT	p.A196T		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	196					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CATCGTGATCGCTGATTTCAG	0.493		NA											35	124					0	0	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968039	102968039	+	Silent	SNP	G	G	A	rs111942110	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:102968039G>A	uc002tbu.1	+	11	1600	c.1329G>A	c.(1327-1329)CGG>CGA	p.R443R	IL18R1_uc002tbw.3_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	443	TIR.|Cytoplasmic (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						AGAGCAGGCGGCACATTTTCA	0.458		NA											4	54					0	0	0	0
LBP	3929	broad.mit.edu	37	20	37001732	37001732	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr20:37001732C>T	uc002xic.1	+	13	1312	c.1277C>T	c.(1276-1278)GCG>GTG	p.A426V		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	426					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				CTGTTGGAAGCGCTCCTCAAC	0.398		NA											9	66					0	0	0	0
SLC5A1	6523	broad.mit.edu	37	22	32506120	32506120	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:32506120C>G	uc003amc.2	+	15	2147	c.1915C>G	c.(1915-1917)CCT>GCT	p.P639A	SLC5A1_uc011alz.1_Missense_Mutation_p.P512A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	639	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						CTCTGAGAAGCCTTTGTGGAG	0.493		NA											4	71					0	0	0	0
ELFN2	114794	broad.mit.edu	37	22	37770213	37770213	+	Silent	SNP	G	G	A	rs145219811		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:37770213G>A	uc003asq.3	-	3	2148	c.1362C>T	c.(1360-1362)CAC>CAT	p.H454H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	454	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TCTGGGCGGCGTGCACAATGG	0.637		NA											9	166					0	0	0	0
PTH1R	5745	broad.mit.edu	37	3	46944059	46944059	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:46944059G>A	uc003cqm.2	+	14	1458	c.1255G>A	c.(1255-1257)GTC>ATC	p.V419I	PTH1R_uc003cqn.2_Missense_Mutation_p.V419I	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	419	Helical; Name=6; (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						CCTCTTTGGCGTCCACTACAT	0.567		NA							Ollier_disease_/_Maffuci_syndrome				4	8					0	0	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362159	133362159	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:133362159G>C	uc003eps.2	-	12	2038	c.1906C>G	c.(1906-1908)CCA>GCA	p.P636A		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	636					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	p.E636Q(1)		ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ACTGGAACTGGTGTGAAGAGA	0.368		NA						Other_conserved_DNA_damage_response_genes					14	47					0	0	0	0
PLCH1	23007	broad.mit.edu	37	3	155215156	155215156	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:155215156A>T	uc011bok.1	-	14	2088	c.1811T>A	c.(1810-1812)TTG>TAG	p.L604*	PLCH1_uc011boj.1_Nonsense_Mutation_p.L604*|PLCH1_uc011bol.1_Nonsense_Mutation_p.L586*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	604	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTACACAACCAAATCAGAGAG	0.463		NA											13	85					0	0	0	0
PIGG	54872	broad.mit.edu	37	4	515515	515515	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:515515C>T	uc003gak.3	+	8	1535	c.1399C>T	c.(1399-1401)CTG>TTG	p.L467L	PIGG_uc003gaj.3_Silent_p.L459L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L334L|PIGG_uc003gal.3_Silent_p.L378L|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.H329H|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Silent_p.L378L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	467					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GGAAGTCCCACTGTCATCTCC	0.532		NA											17	51					0	0	0	0
FAM193A	8603	broad.mit.edu	37	4	2659530	2659530	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:2659530A>G	uc010icl.2	+	6	790	c.439A>G	c.(439-441)ATG>GTG	p.M147V	FAM193A_uc010ick.2_Missense_Mutation_p.M347V|FAM193A_uc003gfd.2_Missense_Mutation_p.M147V|FAM193A_uc011bvm.1_Missense_Mutation_p.M171V|FAM193A_uc011bvn.1_Missense_Mutation_p.M147V|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.M1V	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	147										ovary(3)	3						CCCTTACTAGATGACAATGAA	0.333		NA											33	147					0	0	0	0
SLC12A7	10723	broad.mit.edu	37	5	1094337	1094337	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:1094337G>C	uc003jbu.2	-	2	217	c.151C>G	c.(151-153)CCA>GCA	p.P51A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	51	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTGAGGAATGGGCTGTTTTCT	0.423		NA											13	116					0	0	0	0
SPEF2	79925	broad.mit.edu	37	5	35759820	35759820	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:35759820A>G	uc003jjo.2	+	25	3730	c.3619A>G	c.(3619-3621)AGA>GGA	p.R1207G	SPEF2_uc003jjp.1_Missense_Mutation_p.R693G	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1207					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCAGCTTAGGTAAGGCAG	0.318		NA											29	115					0	0	0	0
CDO1	1036	broad.mit.edu	37	5	115151945	115151945	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:115151945G>A	uc003krg.2	-	1	461	c.150C>T	c.(148-150)TAC>TAT	p.Y50Y		NM_001801	NP_001792	Q16878	CDO1_HUMAN	cysteine dioxygenase	50					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			large_intestine(1)|skin(1)	2		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGAACTTGGCGTACATTGCCC	0.632		NA											23	78					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152557366	152557366	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:152557366T>A	uc010kiw.2	-	110	20874	c.20272A>T	c.(20272-20274)ATA>TTA	p.I6758L	SYNE1_uc010kiv.2_Missense_Mutation_p.I1282L|SYNE1_uc003qos.3_Missense_Mutation_p.I1282L|SYNE1_uc003qot.3_Missense_Mutation_p.I6687L|SYNE1_uc003qou.3_Missense_Mutation_p.I6758L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6758	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGGATATCAGAAGTCGT	0.343		NA								HNSCC(10;0.0054)			11	64					0	0	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166918090	166918090	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:166918090G>A	uc003qvb.1	-	6	689	c.470C>T	c.(469-471)ACG>ATG	p.T157M	RPS6KA2_uc011ego.1_Missense_Mutation_p.T68M|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T68M|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T165M|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T182M	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	157	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATCCTCCTCCGTGAACATGAC	0.413		NA											15	68					0	0	0	0
IQCE	23288	broad.mit.edu	37	7	2632713	2632713	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:2632713C>T	uc003smo.3	+	15	1486	c.1302C>T	c.(1300-1302)TGC>TGT	p.C434C	IQCE_uc010ksm.1_Silent_p.C434C|IQCE_uc003sml.1_Silent_p.C434C|IQCE_uc011jvy.1_Silent_p.C418C|IQCE_uc011jvz.1_Silent_p.C369C|IQCE_uc003smk.3_Silent_p.C418C|IQCE_uc003smn.3_Silent_p.C369C	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	434	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		agctggagtgcgcgagggagg	0.418		NA											16	84					0	0	0	0
SP4	6671	broad.mit.edu	37	7	21516774	21516774	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:21516774G>T	uc003sva.2	+	4	1937	c.1756G>T	c.(1756-1758)GCT>TCT	p.A586S	SP4_uc003svb.2_Missense_Mutation_p.A273S	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	586					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TGGAGGAATTGCTAATGCCAC	0.453		NA											10	38					3.07e-06	3.37e-06	1	0
ABCB1	5243	broad.mit.edu	37	7	87178771	87178771	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:87178771C>T	uc003uiz.1	-	15	2036	c.1618G>A	c.(1618-1620)GCC>ACC	p.A540T	ABCB1_uc011khc.1_Missense_Mutation_p.A476T	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	540	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CGTGCAATGGCGATCCTCTGC	0.547		NA											8	184					0	0	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314736	107314736	+	Silent	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:107314736A>G	uc003vep.2	+	5	767	c.543A>G	c.(541-543)AGA>AGG	p.R181R		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	181	Extracellular (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						CTGCAGCTAGAGATACAGCTA	0.413		NA							Pendred_syndrome				11	48					0	0	0	0
UBR5	51366	broad.mit.edu	37	8	103293651	103293651	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr8:103293651C>T	uc003ykr.1	-	41	5826	c.5793G>A	c.(5791-5793)GAG>GAA	p.E1931E	UBR5_uc003yks.1_Silent_p.E1931E	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1931					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCAGAATGCTCATCATTAT	0.423		NA											19	111					0	0	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994380	91994380	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:91994380G>A	uc004aqo.1	-	18	2400	c.1828C>T	c.(1828-1830)CTC>TTC	p.L610F	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.L608F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	610	Ig-like C2-type.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						TTGAAGATGAGCAAGTTTTTT	0.517		NA											20	300					0	0	0	0
LHX2	9355	broad.mit.edu	37	9	126777641	126777641	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:126777641G>A	uc004boe.1	+	3	1303	c.564G>A	c.(562-564)GCG>GCA	p.A188A	LHX2_uc010mwi.1_Silent_p.A196A	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	188	Poly-Ala.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACGTGGCAGCGGCGGCCGCTG	0.677		NA											3	28					0	0	0	0
MED22	6837	broad.mit.edu	37	9	136211174	136211174	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:136211174C>A	uc004cdc.2	-	4	453	c.219G>T	c.(217-219)GAG>GAT	p.E73D	MED22_uc004cdd.2_Missense_Mutation_p.E73D	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	73					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCATCAGGGACTCGCCGGCTC	0.507		NA											4	47					1.24e-05	1.35e-05	1	0
C9orf139	401563	broad.mit.edu	37	9	139929486	139929486	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:139929486C>T	uc004ckp.1	+	3	2067	c.553C>T	c.(553-555)CAC>TAC	p.H185Y	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	185											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCCCTCATCTCACCCCACCCA	0.592		NA											17	56					0	0	0	0
TTC7B	145567	broad.mit.edu	37	14	91121355	91121356	+	Frame_Shift_Ins	INS	-	-	GTAC			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:91121355_91121356insGTAC	uc001xyp.2	-	12	1562_1563	c.1440_1441insGTAC	c.(1438-1443)TACAGTfs	p.Y480fs	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	480_481	TPR 5.						binding			ovary(2)	2		Melanoma(154;0.222)				GCCTGCAGACTGTACGTGAGCC	0.559		NA											10	51	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578205	7578206	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr17:7578205_7578206insT	uc002gim.2	-	6	837_838	c.643_644insA	c.(643-645)AGTfs	p.S215fs	TP53_uc002gig.1_Frame_Shift_Ins_p.S215fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S215fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S83fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S83fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S83fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S215fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S215fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S215fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.S122fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S83fs|TP53_uc010vug.1_Frame_Shift_Ins_p.S176fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	215	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> R (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; 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.S215R(16)|p.S215I(15)|p.0?(7)|p.S215G(6)|p.S215N(6)|p.S215C(5)|p.S215fs*32(4)|p.S215T(3)|p.S215S(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.H214_S215insX(1)|p.D208_V216delDRNTFRHSV(1)|p.S215fs*29(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.S215_V216insX(1)|p.R213fs*32(1)|p.R209fs*6(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)		CACCACCACACTATGTCGAAAA	0.535		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)			21	34	---	---	---	---	NA	NA	NA	NA
ZNF98	148198	broad.mit.edu	37	19	22575302	22575302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:22575302delT	uc002nqt.2	-	4	857	c.735delA	c.(733-735)AAAfs	p.K245fs		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	245	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTTAAAGGCTTTTCCACACT	0.393		NA											2	4	---	---	---	---	NA	NA	NA	NA
TUBA3E	112714	broad.mit.edu	37	2	130949467	130949469	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:130949467_130949469delCTT	uc002tqv.2	-	5	1389_1391	c.1288_1290delAAG	c.(1288-1290)AAGdel	p.K430del		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	430					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CTTCACAATCCTTCTCTAGAGCT	0.591		NA											17	152	---	---	---	---	NA	NA	NA	NA
RASA1	5921	broad.mit.edu	37	5	86672729	86672740	+	In_Frame_Del	DEL	ATGCTTTATCAC	ATGCTTTATCAC	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:86672729_86672740delATGCTTTATCAC	uc003kiw.2	+	17	2334_2345	c.2216_2227delATGCTTTATCAC	c.(2215-2229)TATGCTTTATCACAT>TAT	p.ALSH740del	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.ALSH563del|RASA1_uc011ctv.1_In_Frame_Del_p.ALSH573del|RASA1_uc011ctw.1_In_Frame_Del_p.ALSH574del|RASA1_uc010jaw.2_In_Frame_Del_p.ALSH562del	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	740_743					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CATGTAGTCTATGCTTTATCACATGTATGTGG	0.368		NA											16	47	---	---	---	---	NA	NA	NA	NA
ZC3H12B	340554	broad.mit.edu	37	X	64719029	64719037	+	In_Frame_Del	DEL	ACTACCGAG	ACTACCGAG	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chrX:64719029_64719037delACTACCGAG	uc010nko.2	+	3	875_883	c.866_874delACTACCGAG	c.(865-876)AACTACCGAGAC>AAC	p.YRD290del		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	290_292							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						TCCAATGATAACTACCGAGACCTTCAAGT	0.445		NA											17	43	---	---	---	---	NA	NA	NA	NA
