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
DVL1	1855	broad.mit.edu	37	1	1273764	1273764	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:1273764C>A	uc001aer.3	-	13	1364	c.1317G>T	c.(1315-1317)CGG>CGT	p.R439R	DVL1_uc002quu.2_Silent_p.R181R|DVL1_uc009vka.2_Silent_p.R122R|DVL1_uc001aeu.1_Silent_p.R198R	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	464	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCCTCCCGCCGCTCCTTGA	0.657		NA											6	10					0.00198382	0.00212523	1	0
RAD54L	8438	broad.mit.edu	37	1	46726604	46726604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:46726604A>G	uc009vye.2	+	8	797	c.683A>G	c.(682-684)AAT>AGT	p.N228S	RAD54L_uc001cpl.2_Missense_Mutation_p.N228S|RAD54L_uc001cpm.1_Missense_Mutation_p.N48S	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	228	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AACTGGTACAATGAGGTTGGG	0.512		NA						Direct_reversal_of_damage|Homologous_recombination					5	43					0	0	0	0
RPE65	6121	broad.mit.edu	37	1	68896799	68896799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:68896799G>A	uc001dei.1	-	13	1453	c.1399C>T	c.(1399-1401)CCA>TCA	p.P467S		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	467					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						GGTTCTGATGGGTATGAATCA	0.393		NA											19	36					0	0	0	0
FAM63A	55793	broad.mit.edu	37	1	150974779	150974779	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:150974779C>G	uc001ewf.2	-	3	1999	c.315G>C	c.(313-315)AGG>AGC	p.R105S	FAM63A_uc001ewc.2_5'UTR|FAM63A_uc010pcm.1_Missense_Mutation_p.R10S|FAM63A_uc001ewd.2_5'UTR|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.R153S|FAM63A_uc001ewg.2_Missense_Mutation_p.R105S	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	105							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTGTCGGGTCCTGGGGGACT	0.577		NA											8	85					0	0	0	0
DENND4B	9909	broad.mit.edu	37	1	153910068	153910068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:153910068G>A	uc001fdd.1	-	15	2529	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	710										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AACTCAGCCCGTAGCTCTGGG	0.612		NA											12	38					0	0	0	0
TDRD10	126668	broad.mit.edu	37	1	154480950	154480950	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:154480950T>C	uc009wow.2	+	4	972	c.134T>C	c.(133-135)ATT>ACT	p.I45T	TDRD10_uc001ffd.2_Missense_Mutation_p.I45T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	45	RRM.						nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACTGGATATTTCTAAGGTA	0.378		NA											44	81					0	0	0	0
DARC	2532	broad.mit.edu	37	1	159175705	159175705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:159175705C>G	uc001fto.2	+	2	716	c.476C>G	c.(475-477)GCA>GGA	p.A159G	DARC_uc001ftp.3_Missense_Mutation_p.A161G	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	159	Cytoplasmic (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					AGACTGGGTGCAGGCCAGGTC	0.632		NA											3	28					0	0	0	0
ATP1A4	480	broad.mit.edu	37	1	160124906	160124906	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:160124906C>A	uc001fve.3	+	3	758	c.279C>A	c.(277-279)ACC>ACA	p.T93T	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	93	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCCCCCACCACTCCAGAAT	0.527		NA											16	68					1.34e-09	1.69e-09	1	0
CD84	8832	broad.mit.edu	37	1	160535331	160535331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:160535331C>T	uc001fwh.3	-	2	275	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	CD84_uc001fwf.3_Missense_Mutation_p.R84Q|CD84_uc001fwg.3_Missense_Mutation_p.R84Q|CD84_uc009wtn.2_Missense_Mutation_p.R84Q|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.R84Q|CD84_uc001fwk.2_Missense_Mutation_p.R84Q	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84	Extracellular (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.R84W(1)		ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCATGTATCCGTTCATAATA	0.438		NA											23	146					0	0	0	0
DNM3	26052	broad.mit.edu	37	1	171956944	171956944	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:171956944C>A	uc001gie.2	+	3	560	c.384C>A	c.(382-384)CAC>CAA	p.H128Q	DNM3_uc001gid.3_Missense_Mutation_p.H128Q|DNM3_uc009wwb.2_Missense_Mutation_p.H128Q|DNM3_uc001gif.2_Missense_Mutation_p.H128Q	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	128					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						ATTCCCCACACGGTAAGTAAA	0.348		NA											10	88					3.86e-05	4.44e-05	1	0
PAPPA2	60676	broad.mit.edu	37	1	176708895	176708895	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:176708895T>C	uc001gkz.2	+	13	5096	c.3932T>C	c.(3931-3933)CTT>CCT	p.L1311P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1311					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AACCACTCTCTTGGTGAGTCT	0.478		NA											4	37					0	0	0	0
PDC	5132	broad.mit.edu	37	1	186413572	186413572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:186413572G>A	uc001gsa.2	-	4	353	c.280C>T	c.(280-282)CGT>TGT	p.R94C	PDC_uc001grz.2_Missense_Mutation_p.R42C	NM_002597	NP_002588	P20941	PHOS_HUMAN	phosducin isoform a	94					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			skin(1)	1		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CACTGTCTACGGTATTTACGA	0.368		NA											4	110					0	0	0	0
RGS18	64407	broad.mit.edu	37	1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:192127873G>A	uc001gsg.2	+	1	282	c.106G>A	c.(106-108)GAA>AAA	p.E36K		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	36					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						AACAAGCAAAGAAGCCAAAAT	0.274		NA											12	25					0	0	0	0
SRGAP2	23380	broad.mit.edu	37	1	206631989	206631989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:206631989C>T	uc001hdy.2	+	19	2600	c.2267C>T	c.(2266-2268)TCT>TTT	p.S756F	SRGAP2_uc010pru.1_Missense_Mutation_p.S679F	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	843	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					CGTCCAGAATCTGGGAGCATC	0.582		NA											6	4					0	0	0	0
CR2	1380	broad.mit.edu	37	1	207646235	207646235	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:207646235A>G	uc001hfw.2	+	10	1783	c.1689A>G	c.(1687-1689)GGA>GGG	p.G563G	CR2_uc001hfv.2_Silent_p.G563G|CR2_uc009xch.2_Silent_p.G563G|CR2_uc009xci.1_Silent_p.G48G	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	563	Sushi 9.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CAGAAAGAGGAGTGGAATTCA	0.507		NA											7	52					0	0	0	0
CAPN9	10753	broad.mit.edu	37	1	230903376	230903376	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:230903376C>A	uc001htz.1	+	5	739	c.626C>A	c.(625-627)ACT>AAT	p.T209N	CAPN9_uc009xfg.1_Missense_Mutation_p.T146N|CAPN9_uc001hua.1_Missense_Mutation_p.T209N	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	209	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACCTTCCAAACTAAAGAGGCC	0.542		NA											32	97					1.63e-12	2.15e-12	1	0
OR2W3	343171	broad.mit.edu	37	1	248058896	248058896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:248058896G>A	uc001idp.1	+	3	277	c.8G>A	c.(7-9)GGA>GAA	p.G3E	OR2W3_uc010pzb.1_Missense_Mutation_p.G3E	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	3	Extracellular (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)			GAGATGGATGGAACCAATGGC	0.348		NA											6	24					0	0	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703080	27703080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:27703080G>A	uc001itu.2	-	1	218	c.100C>T	c.(100-102)CAG>TAG	p.Q34*		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	34					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TCCGATTCCTGAGATTCCTGG	0.682		NA											19	112					0	0	0	0
AGAP6	414189	broad.mit.edu	37	10	51748544	51748544	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:51748544G>T	uc001jix.3	+	1	467	c.69G>T	c.(67-69)TCG>TCT	p.S23S		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						AGCAGGGGTCGGTGTGTCCCT	0.607		NA											30	38					2.08e-15	2.86e-15	1	0
GRID1	2894	broad.mit.edu	37	10	87482808	87482808	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:87482808G>T	uc001kdl.1	-	12	2050	c.1949C>A	c.(1948-1950)GCC>GAC	p.A650D	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.A221D	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	650	Helical; (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	AGCAAGGTTGGCTGTGTAGGA	0.562		NA								Multiple Myeloma(13;0.14)			7	21					8.13e-05	9.23e-05	1	0
HPSE2	60495	broad.mit.edu	37	10	100904156	100904156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:100904156T>A	uc001kpn.1	-	3	509	c.449A>T	c.(448-450)GAC>GTC	p.D150V	HPSE2_uc009xwc.1_Missense_Mutation_p.D140V|HPSE2_uc001kpo.1_Missense_Mutation_p.D140V|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	150					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGAACAATGTCTACAAAAAG	0.388		NA											12	58					0	0	0	0
WNT8B	7479	broad.mit.edu	37	10	102239717	102239717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr10:102239717G>C	uc001krb.2	+	3	303	c.189G>C	c.(187-189)TGG>TGC	p.W63C		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	63					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(1)|breast(1)|large_intestine(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGGACCGCTGGAACTGCCCTG	0.557		NA											16	29					0	0	0	0
NLRP6	171389	broad.mit.edu	37	11	284380	284380	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:284380G>C	uc010qvs.1	+	6	2352	c.2352G>C	c.(2350-2352)CAG>CAC	p.Q784H	NLRP6_uc010qvt.1_Missense_Mutation_p.Q783H	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	784						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGCCGCAGTGCAGGGTGC	0.701		NA											11	17					0	0	0	0
OR10A3	26496	broad.mit.edu	37	11	7960207	7960207	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:7960207C>T	uc010rbi.1	-	1	861	c.861G>A	c.(859-861)CCG>CCA	p.P287P		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATAGATGAGCGGATTGAGCA	0.413		NA											19	42					0	0	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159486	18159486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:18159486G>C	uc001mnu.2	+	3	1098	c.737G>C	c.(736-738)TGG>TCG	p.W246S		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	246	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CACCTGGATTGGAAAGTCTTA	0.507		NA											5	52					0	0	0	0
OR5F1	338674	broad.mit.edu	37	11	55761981	55761981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:55761981C>T	uc010riv.1	-	1	121	c.121G>A	c.(121-123)GGA>AGA	p.G41R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					CCGAGATTTCCCAGTACTGTA	0.433		NA											17	42					0	0	0	0
OR9G4	283189	broad.mit.edu	37	11	56510760	56510760	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:56510760G>A	uc010rjo.1	-	1	528	c.528C>T	c.(526-528)GCC>GCT	p.A176A		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GGAATGTATTGGCAGTATGGG	0.448		NA											27	66					0	0	0	0
GLYATL1	92292	broad.mit.edu	37	11	58715400	58715400	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:58715400C>A	uc001nnf.2	+	5	524	c.148C>A	c.(148-150)CCT>ACT	p.P50T	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P81T|GLYATL1_uc001nni.1_Missense_Mutation_p.P50T|GLYATL1_uc001nnj.1_Missense_Mutation_p.P50T			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	50						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	GGATTCCTGGCCTGAATATCA	0.547		NA											12	49					1.58e-08	1.97e-08	1	0
MRGPRF	116535	broad.mit.edu	37	11	68777336	68777336	+	Missense_Mutation	SNP	C	C	T	rs143408398		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:68777336C>T	uc001ooo.3	-	2	401	c.34G>A	c.(34-36)GGC>AGC	p.G12S	MRGPRF_uc001oop.3_Missense_Mutation_p.G12S|uc001ooq.2_5'Flank	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	12	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCTGTTGCCGGGATGGGCC	0.672		NA											6	85					0	0	0	0
DLG2	1740	broad.mit.edu	37	11	83770475	83770475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:83770475G>A	uc001paj.2	-	6	790	c.487C>T	c.(487-489)CAC>TAC	p.H163Y	DLG2_uc001pai.2_Missense_Mutation_p.H112Y|DLG2_uc010rsy.1_Missense_Mutation_p.H130Y|DLG2_uc010rsz.1_Missense_Mutation_p.H163Y|DLG2_uc010rta.1_Missense_Mutation_p.H163Y|DLG2_uc001pak.2_Missense_Mutation_p.H268Y|DLG2_uc010rtb.1_Missense_Mutation_p.H130Y|DLG2_uc001pal.1_Missense_Mutation_p.H163Y|DLG2_uc001pam.1_Missense_Mutation_p.H202Y	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	163	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTTTACTGTGGGAAACCTCT	0.473		NA											7	44					0	0	0	0
NOX4	50507	broad.mit.edu	37	11	89135493	89135493	+	Splice_Site	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:89135493C>A	uc001pct.2	-	9	1085	c.846_splice	c.e9+1	p.Q282_splice	NOX4_uc009yvr.2_Splice_Site_p.Q257_splice|NOX4_uc001pcu.2_Splice_Site_p.Q208_splice|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Splice_Site_p.Q282_splice|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Splice_Site_p.Q116_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.Q258_splice|NOX4_uc009yvq.2_Splice_Site_p.Q258_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATTAATCTGACCTGTGGAAAA	0.353		NA											10	46					0.000673444	0.00073492	1	0
PDZD3	79849	broad.mit.edu	37	11	119059095	119059095	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:119059095G>T	uc001pwb.2	+	6	1616	c.1092G>T	c.(1090-1092)CTG>CTT	p.L364L	PDZD3_uc001pvy.2_Silent_p.L284L|PDZD3_uc001pvz.2_Silent_p.L298L|PDZD3_uc010rzd.1_Silent_p.L285L|PDZD3_uc001pwa.2_5'UTR			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	364	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ACCCGGGACTGCCAGCCAAGA	0.642		NA											13	55					1.36e-06	1.63e-06	1	0
TMEM225	338661	broad.mit.edu	37	11	123753941	123753941	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr11:123753941T>C	uc001pzi.2	-	4	790	c.582A>G	c.(580-582)CCA>CCG	p.P194P		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	194						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						CAGTGCATTCTGGTAATGAAA	0.428		NA											23	73					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7649408	7649408	+	Splice_Site	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:7649408C>G	uc001qsz.3	-	5	1227	c.1099_splice	c.e5+1	p.D367_splice	CD163_uc001qta.3_Splice_Site_p.D367_splice|CD163_uc009zfw.2_Splice_Site_p.D367_splice	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TTTTAACTTACCAGAACATGT	0.343		NA											9	73					0	0	0	0
PRH1	5554	broad.mit.edu	37	12	11034867	11034867	+	Silent	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:11034867T>A	uc001qzc.2	-	8	1056	c.468A>T	c.(466-468)CCA>CCT	p.P156P	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	156						extracellular space	protein binding				0				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGGTCCTTGTGGGCGGCCCC	0.572		NA											32	147					0	0	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613818	14613818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:14613818G>A	uc001rbw.2	+	9	2706	c.2548G>A	c.(2548-2550)GTG>ATG	p.V850M	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.V850M|ATF7IP_uc001rbv.1_Missense_Mutation_p.V849M|ATF7IP_uc001rbx.2_Missense_Mutation_p.V849M|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.V850M|ATF7IP_uc001rca.2_Missense_Mutation_p.V850M	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	850					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						CGTTCCTTCTGTGCCCAGTCC	0.478		NA											31	113					0	0	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19475473	19475473	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:19475473C>T	uc001reb.2	+	15	2097	c.2011C>T	c.(2011-2013)CTA>TTA	p.L671L	PLEKHA5_uc010sie.1_Silent_p.L774L|PLEKHA5_uc001rea.2_Silent_p.L729L|PLEKHA5_uc009zin.2_Silent_p.L429L|PLEKHA5_uc010sif.1_Silent_p.L602L|PLEKHA5_uc010sig.1_Silent_p.L590L|PLEKHA5_uc010sih.1_Silent_p.L563L|PLEKHA5_uc001rec.1_Silent_p.L417L|PLEKHA5_uc009zio.2_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	671							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCAAGCTTTGCTATCAGCCAG	0.363		NA											28	47					0	0	0	0
SYT10	341359	broad.mit.edu	37	12	33532866	33532866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:33532866G>T	uc001rll.1	-	6	1698	c.1401C>A	c.(1399-1401)TGC>TGA	p.C467*	SYT10_uc009zju.1_Nonsense_Mutation_p.C277*	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	467	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTCCTGTTCTGCACACTCCTA	0.453		NA											21	98					1.96e-10	2.51e-10	1	0
LRRK2	120892	broad.mit.edu	37	12	40734242	40734242	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:40734242C>G	uc001rmg.3	+	41	6216	c.6095C>G	c.(6094-6096)TCA>TGA	p.S2032*	LRRK2_uc009zjw.2_Nonsense_Mutation_p.S870*|LRRK2_uc001rmi.2_Nonsense_Mutation_p.S865*	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2032	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAAAAACATCAGAGGGCACA	0.443		NA											17	72					0	0	0	0
HOXC6	3223	broad.mit.edu	37	12	54422697	54422697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:54422697C>T	uc001sev.2	+	1	504	c.392C>T	c.(391-393)TCG>TTG	p.S131L	HOXC6_uc001ses.2_Missense_Mutation_p.S49L|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	131					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						CGAATGAATTCGCACAGTGGT	0.473		NA											4	79					0	0	0	0
NXPH4	11247	broad.mit.edu	37	12	57619381	57619381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:57619381G>A	uc010srf.1	+	2	953	c.778G>A	c.(778-780)GAG>AAG	p.E260K	NXPH4_uc009zpj.2_Missense_Mutation_p.E66K	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	260	V (Cys-rich).				neuropeptide signaling pathway	extracellular region					0						GTGCTTCACCGAGCACACGCA	0.567		NA											16	24					0	0	0	0
ALX1	8092	broad.mit.edu	37	12	85680630	85680630	+	Splice_Site	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:85680630G>C	uc001tae.3	+	3	536	c.532_splice	c.e3-1	p.V178_splice		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1						brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		taaataattaGGTTTGGTTTC	0.313		NA											4	13					0	0	0	0
KIAA1033	23325	broad.mit.edu	37	12	105515902	105515902	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:105515902G>A	uc001tld.2	+	10	759	c.672G>A	c.(670-672)CTG>CTA	p.L224L	KIAA1033_uc010swr.1_Silent_p.L224L|KIAA1033_uc010sws.1_Silent_p.L36L	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	224					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						CAAGGTTACTGAAATCTGTCC	0.274		NA											7	64					0	0	0	0
ISCU	23479	broad.mit.edu	37	12	108959132	108959132	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr12:108959132T>C	uc010sxc.1	+	3	369	c.264T>C	c.(262-264)GCT>GCC	p.A88A	ISCU_uc010sxa.1_Silent_p.A88A|ISCU_uc010sxb.1_Silent_p.A88A|ISCU_uc001tnc.3_Silent_p.A63A|ISCU_uc009zuy.2_Silent_p.A63A|ISCU_uc010sxd.1_Silent_p.A88A	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme isoform	88					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold				0						TTGTGGATGCTAGGTTTAAAA	0.473		NA											5	48					0	0	0	0
ERCC5	2073	broad.mit.edu	37	13	103520608	103520608	+	Splice_Site	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:103520608G>C	uc001vpw.2	+	12	3121	c.2678_splice	c.e12+1	p.S893_splice	ERCC5_uc001vpu.1_Splice_Site_p.S1347_splice|ERCC5_uc010tjc.1_Splice_Site|ERCC5_uc010tjd.1_Splice_Site_p.S725_splice	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein						negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAATTCTCGTAAGGTCTTT	0.373		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				3	44					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109779811	109779811	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr13:109779811C>A	uc001vqt.1	+	31	4024	c.3898C>A	c.(3898-3900)CCA>ACA	p.P1300T	MYO16_uc010agk.1_Missense_Mutation_p.P1322T|MYO16_uc010tjh.1_Missense_Mutation_p.P812T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1300					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGCCCAAGCCAAAGAGGGA	0.657		NA											10	13					2.18e-05	2.52e-05	1	0
G2E3	55632	broad.mit.edu	37	14	31071100	31071100	+	Nonsense_Mutation	SNP	G	G	T	rs60676717		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:31071100G>T	uc001wqk.2	+	9	1031	c.877G>T	c.(877-879)GGA>TGA	p.G293*	G2E3_uc010tpe.1_Nonsense_Mutation_p.G208*|G2E3_uc010tpf.1_Nonsense_Mutation_p.G247*	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	293					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CTACAATTCAGGTAATTTTTT	0.318		NA											30	30					3.18e-06	3.77e-06	1	0
DACT1	51339	broad.mit.edu	37	14	59105250	59105250	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:59105250G>T	uc001xdw.2	+	1	494	c.330G>T	c.(328-330)CTG>CTT	p.L110L	DACT1_uc010trv.1_Intron|DACT1_uc001xdx.2_Silent_p.L110L|DACT1_uc010trw.1_5'Flank	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	110	Potential.				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						ACATCTTGCTGCTAAGAAAGC	0.562		NA											5	10					5.94e-07	7.17e-07	1	0
GALNTL1	57452	broad.mit.edu	37	14	69808451	69808451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:69808451G>A	uc010aqu.1	+	12	1334	c.1241G>A	c.(1240-1242)TGG>TAG	p.W414*	GALNTL1_uc001xla.1_Nonsense_Mutation_p.W414*|GALNTL1_uc001xlb.1_Nonsense_Mutation_p.W414*	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	414	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCCTTCCGCTGGTACCTGGAG	0.612		NA											8	12					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633619	70633619	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:70633619G>T	uc001xly.2	-	2	2275	c.1521C>A	c.(1519-1521)CCC>CCA	p.P507P	SLC8A3_uc001xlw.2_Silent_p.P507P|SLC8A3_uc001xlx.2_Silent_p.P507P|SLC8A3_uc001xlz.2_Silent_p.P507P|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	507	Cytoplasmic (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)		CCCGAGGCAAGGGAAGACTGT	0.498		NA											29	34					4.88e-14	6.6e-14	1	0
ATG2B	55102	broad.mit.edu	37	14	96797952	96797952	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:96797952T>C	uc001yfi.2	-	11	1856	c.1491A>G	c.(1489-1491)TCA>TCG	p.S497S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	497										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATCCACTGAAACAGATC	0.308		NA											11	50					0	0	0	0
C14orf73	91828	broad.mit.edu	37	14	103573762	103573762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr14:103573762C>T	uc001ymk.2	+	8	1659	c.1583C>T	c.(1582-1584)CCG>CTG	p.P528L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	528											0		Melanoma(154;0.155)	Epithelial(46;0.221)			TGTCCCCAGCCGCTCTTCAGG	0.632		NA											21	24					0	0	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32926132	32926132	+	Splice_Site	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:32926132A>G	uc001zgy.1	+	10	1958	c.1236_splice	c.e10-2	p.R412_splice	ARHGAP11A_uc010ubw.1_Splice_Site_p.R223_splice|ARHGAP11A_uc001zgw.2_Splice_Site_p.R412_splice|ARHGAP11A_uc001zgx.2_Splice_Site_p.R384_splice|ARHGAP11A_uc010ubx.1_Splice_Site_p.R223_splice	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CACTTCTTCTAGAGTGGAATC	0.333		NA											6	8					0	0	0	0
ZWILCH	55055	broad.mit.edu	37	15	66821212	66821212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:66821212C>T	uc002aqb.2	+	11	1238	c.992C>T	c.(991-993)GCA>GTA	p.A331V	ZWILCH_uc010bhu.1_Missense_Mutation_p.A217V|ZWILCH_uc002aqa.2_Missense_Mutation_p.A217V|ZWILCH_uc010bhv.2_Missense_Mutation_p.A217V	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Zwilch	331					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			ovary(1)	1						GACACTGCTGCAGTCGATCGT	0.408		NA											7	37					0	0	0	0
C15orf59	388135	broad.mit.edu	37	15	74032449	74032449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:74032449G>A	uc002avy.2	-	2	1036	c.691C>T	c.(691-693)CAC>TAC	p.H231Y		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	231										pancreas(1)	1						GAGGGCTTGTGGGGGCCTGCA	0.498		NA											3	47					0	0	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79080663	79080663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:79080663C>T	uc002bej.3	-	8	1443	c.1232G>A	c.(1231-1233)CGA>CAA	p.R411Q	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.R411Q	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	411	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GATGAAAGGTCGTTTCCCAAC	0.612		NA											39	79					0	0	0	0
NTRK3	4916	broad.mit.edu	37	15	88472648	88472648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:88472648G>A	uc002bme.1	-	16	2069	c.1907C>T	c.(1906-1908)GCA>GTA	p.A636V	NTRK3_uc002bmh.2_Missense_Mutation_p.A628V|NTRK3_uc002bmf.1_Missense_Mutation_p.A636V|NTRK3_uc010upl.1_Missense_Mutation_p.A538V|NTRK3_uc010bnh.1_Missense_Mutation_p.A628V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	636	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATCATTGCATCTGGCCC	0.522		NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			6	29					0	0	0	0
CRTC3	64784	broad.mit.edu	37	15	91185222	91185222	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr15:91185222G>T	uc002bpp.2	+	15	1816	c.1710G>T	c.(1708-1710)GAG>GAT	p.E570D	CRTC3_uc002bpo.2_Missense_Mutation_p.E569D	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	570					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCCTGCCTGAGGTCAGCCTGA	0.562		NA	T	MAML2	salivary gland mucoepidermoid								7	59					1.26e-09	1.6e-09	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3139838	3139838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:3139838G>A	uc002ctv.1	-	5	1520	c.1432C>T	c.(1432-1434)CGC>TGC	p.R478C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R139C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R396C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R406C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	478	C2H2-type 6.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TGCTCGCTGCGCCGGAAGGCC	0.731		NA											3	9					0	0	0	0
ERCC4	2072	broad.mit.edu	37	16	14024633	14024633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:14024633G>A	uc002dce.2	+	5	868	c.859G>A	c.(859-861)GAT>AAT	p.D287N	ERCC4_uc010bva.2_Missense_Mutation_p.D287N	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	287	Leucine-zipper 2.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						CTTAGTTCAGGATTTGAAGAT	0.373		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				3	35					0	0	0	0
CPNE2	221184	broad.mit.edu	37	16	57180102	57180102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:57180102G>A	uc002eks.1	+	15	1637	c.1408G>A	c.(1408-1410)GTG>ATG	p.V470M	CPNE2_uc010cct.1_Missense_Mutation_p.V496M|CPNE2_uc010ccu.1_Missense_Mutation_p.V470M|CPNE2_uc002ekt.1_Missense_Mutation_p.V166M	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	470	VWFA.									central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				CATCATCATCGTGGGCGTGGG	0.617		NA											4	7					0	0	0	0
CDH8	1006	broad.mit.edu	37	16	61891110	61891110	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:61891110C>A	uc002eog.1	-	4	832	c.580G>T	c.(580-582)GCT>TCT	p.A194S	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	194	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGTCATCAGCGTCGGTCGCA	0.383		NA											18	52					7.08e-05	8.07e-05	1	0
CMTM3	123920	broad.mit.edu	37	16	66642247	66642247	+	Silent	SNP	G	G	A	rs149684359		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr16:66642247G>A	uc002epu.2	+	3	442	c.183G>A	c.(181-183)GCG>GCA	p.A61A	CMTM3_uc002epv.2_Silent_p.A61A|CMTM3_uc002epw.2_Silent_p.A61A|CMTM3_uc002epx.2_Silent_p.A61A|CMTM3_uc002epy.2_RNA	NM_001048251	NP_001041716	Q96MX0	CKLF3_HUMAN	chemokine-like factor superfamily 3	61	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		GCTATGTGGCGTCCTCAGCAT	0.527		NA									OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	119					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578416	7578416	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:7578416C>A	uc002gim.2	-	5	708	c.514G>T	c.(514-516)GTT>TTT	p.V172F	TP53_uc002gig.1_Missense_Mutation_p.V172F|TP53_uc002gih.2_Missense_Mutation_p.V172F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V40F|TP53_uc010cng.1_Missense_Mutation_p.V40F|TP53_uc002gii.1_Missense_Mutation_p.V40F|TP53_uc010cnh.1_Missense_Mutation_p.V172F|TP53_uc010cni.1_Missense_Mutation_p.V172F|TP53_uc002gij.2_Missense_Mutation_p.V172F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V79F|TP53_uc002gio.2_Missense_Mutation_p.V40F|TP53_uc010vug.1_Missense_Mutation_p.V133F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	172	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> D (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.V172F(10)|p.V172D(8)|p.V172I(7)|p.0?(7)|p.V172V(4)|p.V172A(4)|p.V172fs*2(3)|p.V172G(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171_V172delEV(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)		CGCCTCACAACCTCCGTCATG	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)			28	32					7.01e-11	9.04e-11	1	0
DHRS7C	201140	broad.mit.edu	37	17	9674889	9674889	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:9674889G>A	uc010vvb.1	-	6	855	c.855C>T	c.(853-855)TAC>TAT	p.Y285Y	DHRS7C_uc010cof.2_Silent_p.Y284Y	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	285						extracellular region	binding|oxidoreductase activity				0						AGGTGCGGACGTACACGGCGG	0.612		NA											4	14					0	0	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565761	18565761	+	Missense_Mutation	SNP	C	C	T	rs150903875	by1000genomes	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:18565761C>T	uc010vyd.1	-	5	1309	c.1058G>A	c.(1057-1059)AGG>AAG	p.R353K		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	zinc finger protein 286B	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCATAAGGCCTCACTCCAGT	0.358		NA											3	19					0	0	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602314	48602314	+	Missense_Mutation	SNP	C	C	T	rs140934764	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr17:48602314C>T	uc010wmr.1	+	13	2003	c.1841C>T	c.(1840-1842)CCG>CTG	p.P614L	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	577					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTCTTGACCCCGGAGCGCACA	0.627		NA											25	62					0	0	0	0
MPPE1	65258	broad.mit.edu	37	18	11893517	11893517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:11893517C>T	uc002kqf.2	-	4	981	c.340G>A	c.(340-342)GTC>ATC	p.V114I	MPPE1_uc002kqn.2_Missense_Mutation_p.V114I|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Missense_Mutation_p.V114I|MPPE1_uc002kqk.2_Missense_Mutation_p.V114I|MPPE1_uc002kql.2_Missense_Mutation_p.V114I|MPPE1_uc002kqm.2_Missense_Mutation_p.V114I|MPPE1_uc010dla.1_Missense_Mutation_p.V114I	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1 precursor	114					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity				0						AGGATGAAGACGACTTCCGGC	0.532		NA											8	45					0	0	0	0
ZNF519	162655	broad.mit.edu	37	18	14106206	14106206	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:14106206T>C	uc002kst.1	-	3	486	c.333A>G	c.(331-333)AAA>AAG	p.K111K	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGTTAAATGTTTGTTATGAC	0.333		NA											12	51					0	0	0	0
ASXL3	80816	broad.mit.edu	37	18	31322978	31322978	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:31322978G>T	uc010dmg.1	+	12	3221	c.3166G>T	c.(3166-3168)GAT>TAT	p.D1056Y	ASXL3_uc002kxq.2_Missense_Mutation_p.D763Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1056	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GACCCTCGCAGATATCAAGGC	0.587		NA											4	9					1.24e-05	1.45e-05	1	0
RIT2	6014	broad.mit.edu	37	18	40323626	40323626	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:40323626G>T	uc002lav.2	-	5	659	c.486C>A	c.(484-486)ACC>ACA	p.T162T	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	162					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						GGGCTGCAGAGGTCTCAAAAA	0.378		NA											26	44					4.48e-21	6.21e-21	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44266168	44266168	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr18:44266168T>A	uc002lcj.1	-	5	1106	c.538A>T	c.(538-540)AGG>TGG	p.R180W	ST8SIA5_uc002lci.1_Missense_Mutation_p.R27W|ST8SIA5_uc010xcy.1_Missense_Mutation_p.R216W|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R149W	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	180	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TTGATCTCCCTCCCGCAGCGG	0.587		NA											5	48					0	0	0	0
HCN2	610	broad.mit.edu	37	19	608035	608035	+	Silent	SNP	C	C	T	rs145436026	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:608035C>T	uc002lpe.2	+	4	1343	c.1290C>T	c.(1288-1290)TAC>TAT	p.Y430Y		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	430					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCGGGTACGGCCGGCAGG	0.617		NA											7	50					0	0	0	0
C3	718	broad.mit.edu	37	19	6709693	6709693	+	Splice_Site	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:6709693A>T	uc002mfm.2	-	14	1907	c.1845_splice	c.e14+1	p.K615_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627		NA											16	168					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9059076	9059076	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:9059076T>C	uc002mkp.2	-	3	28574	c.28370A>G	c.(28369-28371)CAC>CGC	p.H9457R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9459	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGAGAGGAGTGGCTACTCCC	0.498		NA											20	79					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9062974	9062974	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:9062974C>A	uc002mkp.2	-	3	24676	c.24472G>T	c.(24472-24474)GTC>TTC	p.V8158F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8160	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGGAGGTGACTTCTGTCCTG	0.542		NA											16	75					6.72e-11	8.69e-11	1	0
KEAP1	9817	broad.mit.edu	37	19	10610277	10610277	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:10610277T>A	uc002moq.1	-	2	589	c.433A>T	c.(433-435)ATC>TTC	p.I145F	KEAP1_uc002mor.1_Missense_Mutation_p.I145F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	145	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCATGGAGATGGAGGCCGTG	0.592		NA											14	36					0	0	0	0
SIN3B	23309	broad.mit.edu	37	19	16977364	16977364	+	Silent	SNP	C	C	T	rs138346712	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:16977364C>T	uc002ney.1	+	13	1913	c.1899C>T	c.(1897-1899)GAC>GAT	p.D633D	SIN3B_uc002nez.1_Silent_p.D601D|SIN3B_uc010xpi.1_Silent_p.D191D	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	633					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GCGTCTACGACGAGGTAAAGC	0.627		NA											17	22					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30936564	30936564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:30936564G>A	uc002nsu.1	+	2	2233	c.2095G>A	c.(2095-2097)GGG>AGG	p.G699R	ZNF536_uc010edd.1_Missense_Mutation_p.G699R	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGAGGAGAGCGGGGTCGGAGG	0.697		NA											14	13					0	0	0	0
ANKRD27	84079	broad.mit.edu	37	19	33131245	33131245	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:33131245T>C	uc002ntn.1	-	11	1107	c.951A>G	c.(949-951)TTA>TTG	p.L317L	ANKRD27_uc002nto.1_Silent_p.L317L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	317	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					CAAGCAAGTATAACAGGACTG	0.353		NA											17	51					0	0	0	0
LRFN3	79414	broad.mit.edu	37	19	36430643	36430643	+	Silent	SNP	C	C	T	rs112518812		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:36430643C>T	uc002oco.2	+	2	768	c.316C>T	c.(316-318)CTG>TTG	p.L106L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	106	Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCGCCGACCTGCGGGCCCT	0.706		NA											5	28					0	0	0	0
CLIP3	25999	broad.mit.edu	37	19	36517871	36517871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:36517871G>A	uc010eeq.1	-	3	665	c.383C>T	c.(382-384)GCT>GTT	p.A128V	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A128V	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	128	ANK 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGGCCCCAGCTTTGCACGC	0.617		NA											4	34					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40424009	40424009	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:40424009C>A	uc002omp.3	-	4	2202	c.2194G>T	c.(2194-2196)GTT>TTT	p.V732F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	732						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTCCCCAACCGAGATGCCA	0.617		NA											18	49					6.5e-13	8.67e-13	1	0
ZNF836	162962	broad.mit.edu	37	19	52663759	52663759	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:52663759C>A	uc010ydi.1	-	4	475	c.101G>T	c.(100-102)TGG>TTG	p.W34L	ZNF836_uc010ydj.1_Missense_Mutation_p.W34L	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATCACATCCCAGTACAAAGC	0.433		NA											12	84					0.00010058	0.000114019	1	0
ZNF264	9422	broad.mit.edu	37	19	57723895	57723895	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:57723895A>T	uc002qob.2	+	4	1843	c.1430A>T	c.(1429-1431)CAC>CTC	p.H477L		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	477	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTCAGCATCCACACTGGAGAG	0.542		NA											9	26					0	0	0	0
TACR1	6869	broad.mit.edu	37	2	75425690	75425690	+	Missense_Mutation	SNP	G	G	A	rs138993766		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:75425690G>A	uc002sng.2	-	1	956	c.371C>T	c.(370-372)ACG>ATG	p.T124M	TACR1_uc002snh.2_Missense_Mutation_p.T124M	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	124	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGCCACAGCCGTCATGGAGTA	0.512		NA											9	51					0	0	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038776	122038776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:122038776G>A	uc002tmx.2	-	2	227	c.134C>T	c.(133-135)CCA>CTA	p.P45L	TFCP2L1_uc010flr.2_Missense_Mutation_p.P45L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	45	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TTGCAGGGGTGGCAGGCGGGC	0.617		NA											40	134					0	0	0	0
GYPC	2995	broad.mit.edu	37	2	127447862	127447862	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:127447862C>A	uc002tnq.2	+	2	237	c.81C>A	c.(79-81)ACC>ACA	p.T27T	GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	27	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CTGCCTCCACCACAATGCATA	0.532		NA											8	38					0.000442599	0.000491155	1	0
GYPC	2995	broad.mit.edu	37	2	127453707	127453707	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:127453707T>G	uc002tnq.2	+	4	532	c.376T>G	c.(376-378)TAC>GAC	p.Y126D	GYPC_uc002tnr.2_Missense_Mutation_p.Y107D|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	126	Cytoplasmic.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGAAAGGAGTACTTTATTTG	0.552		NA											8	19					0	0	0	0
IWS1	55677	broad.mit.edu	37	2	128262822	128262822	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:128262822A>G	uc002ton.2	-	3	960	c.657T>C	c.(655-657)CCT>CCC	p.P219P	IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	219	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGACCTGAGGTTTAGGAA	0.512		NA											32	195					0	0	0	0
FAM123C	205147	broad.mit.edu	37	2	131521962	131521962	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:131521962C>A	uc002trw.2	+	2	2507	c.2317C>A	c.(2317-2319)CAG>AAG	p.Q773K	FAM123C_uc010fmv.2_Missense_Mutation_p.Q773K|FAM123C_uc010fms.1_Missense_Mutation_p.Q773K|FAM123C_uc010fmt.1_Missense_Mutation_p.Q773K|FAM123C_uc010fmu.1_Missense_Mutation_p.Q773K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	773										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGTGGAGGACCAGCCCTTGCA	0.672		NA											5	26					1.24e-05	1.45e-05	1	0
LRP1B	53353	broad.mit.edu	37	2	141208173	141208173	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:141208173C>A	uc002tvj.1	-	63	10993	c.10021G>T	c.(10021-10023)GAC>TAC	p.D3341Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3341	Extracellular (Potential).|LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACCACAGTCATCCACGGTG	0.358		NA								TSP Lung(27;0.18)			18	51					8.34e-07	1e-06	1	0
TTN	7273	broad.mit.edu	37	2	179395327	179395327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:179395327C>T	uc010zfg.1	-	307	98535	c.98311G>A	c.(98311-98313)GAT>AAT	p.D32771N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26466N|TTN_uc010zfi.1_Missense_Mutation_p.D26399N|TTN_uc010zfj.1_Missense_Mutation_p.D26274N|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33698							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTACCATCTGCTGAATAA	0.393		NA											3	61					0	0	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501091	220501091	+	Silent	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:220501091C>G	uc002vmp.3	+	15	2528	c.2259C>G	c.(2257-2259)CTC>CTG	p.L753L	SLC4A3_uc002vmo.3_Silent_p.L780L|SLC4A3_uc010fwm.2_Silent_p.L303L|SLC4A3_uc010fwn.1_Silent_p.L262L	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	753	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGTCCTCTTCTCTCTGC	0.622		NA											21	52					0	0	0	0
EPHA4	2043	broad.mit.edu	37	2	222347263	222347263	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr2:222347263T>A	uc002vmq.2	-	5	1169	c.1127A>T	c.(1126-1128)AAG>ATG	p.K376M	EPHA4_uc002vmr.2_Missense_Mutation_p.K376M|EPHA4_uc010zlm.1_Missense_Mutation_p.K317M|EPHA4_uc010zln.1_Missense_Mutation_p.K376M	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	376	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTCGGCACTTGCTGGGGTC	0.517		NA											61	182					0	0	0	0
SEL1L2	80343	broad.mit.edu	37	20	13846030	13846030	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:13846030A>G	uc010gcf.2	-	16	1617	c.1535T>C	c.(1534-1536)GTA>GCA	p.V512A	SEL1L2_uc002woq.3_Missense_Mutation_p.V373A|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	512	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						GCTTTGAGCTACTTCATACCC	0.383		NA											31	76					0	0	0	0
C20orf12	55184	broad.mit.edu	37	20	18379176	18379176	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:18379176C>T	uc010zsa.1	-	14	1793	c.1584G>A	c.(1582-1584)AGG>AGA	p.R528R	C20orf12_uc010zrz.1_Silent_p.R47R|C20orf12_uc002wqp.3_Silent_p.R219R|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Silent_p.R395R|C20orf12_uc002wqq.3_Silent_p.R509R	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	336						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				CCTTTCCCATCCTGGGTTCTG	0.299		NA											23	72					0	0	0	0
ASXL1	171023	broad.mit.edu	37	20	31024686	31024686	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr20:31024686A>T	uc002wxs.2	+	12	4597	c.4171A>T	c.(4171-4173)AGT>TGT	p.S1391C	ASXL1_uc010geb.2_Missense_Mutation_p.S1282C	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1391					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TACTGGGCATAGTCCCCTGGA	0.542		NA	F|N|Mis		MDS|CMML								24	102					0	0	0	0
DSCAM	1826	broad.mit.edu	37	21	41711115	41711115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:41711115C>T	uc002yyq.1	-	7	1890	c.1438G>A	c.(1438-1440)GGA>AGA	p.G480R	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	480	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGTAGACTCCCCCGTCCCGG	0.562		NA											17	26					0	0	0	0
C21orf70	85395	broad.mit.edu	37	21	46386972	46386972	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:46386972G>C	uc002zgl.2	+	4	394	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	C21orf70_uc002zgm.2_Missense_Mutation_p.E111Q	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	126											0				Colorectal(79;0.248)		AAAACTGGCTGAGCAGAAGCA	0.637		NA											11	11					0	0	0	0
COL6A1	1291	broad.mit.edu	37	21	47423497	47423497	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr21:47423497C>A	uc002zhu.1	+	35	2759	c.2657C>A	c.(2656-2658)CCA>CAA	p.P886Q	COL6A1_uc010gqd.1_Missense_Mutation_p.P217Q|COL6A1_uc002zhv.1_Missense_Mutation_p.P217Q|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	886	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CAGCAGCGCCCAGAGCGGGCG	0.687		NA											6	25					0.00116845	0.00125943	1	0
SMARCB1	6598	broad.mit.edu	37	22	24133989	24133989	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:24133989A>C	uc002zyb.2	+	2	347	c.140A>C	c.(139-141)TAC>TCC	p.Y47S	SMARCB1_uc002zyg.2_Missense_Mutation_p.Y47S|SMARCB1_uc011ajb.1_Missense_Mutation_p.Y47S|SMARCB1_uc002zya.2_Missense_Mutation_p.Y47S|SMARCB1_uc002zyc.2_Missense_Mutation_p.Y47S|SMARCB1_uc002zyd.2_Missense_Mutation_p.Y47S|SMARCB1_uc002zye.1_Missense_Mutation_p.Y10S|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	47					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.Y47*(6)|p.?(2)|p.Y47fs*22(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TACAAGAGATACCCCTCACTC	0.478		NA	D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				13	147					0	0	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661578	35661578	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:35661578G>C	uc003anl.2	+	5	1371	c.1197G>C	c.(1195-1197)GAG>GAC	p.E399D	HMGXB4_uc011amh.1_Missense_Mutation_p.E290D|HMGXB4_uc003ank.2_Missense_Mutation_p.E290D	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	399					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						aggacaaagagagagagagag	0.378		NA											6	21					0	0	0	0
GGA1	26088	broad.mit.edu	37	22	38016247	38016247	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr22:38016247T>C	uc003atc.2	+	5	671	c.306T>C	c.(304-306)TAT>TAC	p.Y102Y	GGA1_uc003atd.2_Silent_p.Y102Y|GGA1_uc003ate.2_Silent_p.Y102Y|GGA1_uc003atf.2_Silent_p.Y29Y	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	102	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CCCTGAAGTATCTGGGCTCTC	0.592		NA											51	89					0	0	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027554	9027554	+	Silent	SNP	C	C	A	rs147085328	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:9027554C>A	uc003brf.1	-	22	3625	c.2949G>T	c.(2947-2949)ACG>ACT	p.T983T	SRGAP3_uc003brg.1_Silent_p.T959T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	983	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTGCTTGACCGTGTTCTGCC	0.647		NA	T	RAF1	pilocytic astrocytoma								15	46					1.52e-12	2.01e-12	1	0
TGM4	7047	broad.mit.edu	37	3	44929184	44929184	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:44929184C>G	uc003coc.3	+	3	270	c.197C>G	c.(196-198)CCG>CGG	p.P66R	TGM4_uc003coa.2_Missense_Mutation_p.P66R|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	66					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTCCAGGGCCGAATCCTAGC	0.592		NA											18	22					0	0	0	0
ACY1	95	broad.mit.edu	37	3	52021202	52021202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:52021202G>A	uc003dcp.2	+	10	758	c.697G>A	c.(697-699)GAA>AAA	p.E233K	ACY1_uc011bea.1_Missense_Mutation_p.E323K|ACY1_uc011beb.1_Missense_Mutation_p.E233K|ACY1_uc003dcq.2_Missense_Mutation_p.E233K	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	233			E -> D (in ACY1D; loss of activity).		cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CCGGGAGAAGGAATGGCAGAG	0.552		NA											48	58					0	0	0	0
MYH15	22989	broad.mit.edu	37	3	108195314	108195314	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:108195314A>T	uc003dxa.1	-	13	1280	c.1223T>A	c.(1222-1224)GTA>GAA	p.V408E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	408	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CAAGCACTTTACCAACTCAGA	0.383		NA											4	34					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108688550	108688550	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:108688550T>A	uc003dxl.2	-	26	2657	c.2570A>T	c.(2569-2571)CAG>CTG	p.Q857L	MORC1_uc011bhn.1_Missense_Mutation_p.Q836L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	857					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTTGTTCATCTGCTCTGGGCA	0.363		NA											10	56					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130282012	130282012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:130282012C>A	uc010htl.2	+	2	196	c.165C>A	c.(163-165)AGC>AGA	p.S55R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	55	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAATGATCAGCAGTCTCCCCA	0.502		NA											22	118					7.45e-12	9.7e-12	1	0
PLSCR2	57047	broad.mit.edu	37	3	146173132	146173132	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:146173132G>T	uc003evv.1	-	5	548	c.215C>A	c.(214-216)TCT>TAT	p.S72Y	PLSCR2_uc003evw.1_Missense_Mutation_p.S141Y	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	72	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0						AAAAGGTCTAGACCGCCCACA	0.413		NA											16	103					2.63e-14	3.56e-14	1	0
ZIC4	84107	broad.mit.edu	37	3	147113700	147113700	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:147113700C>A	uc003ewd.1	-	3	900	c.627G>T	c.(625-627)CCG>CCT	p.P209P	ZIC4_uc003ewc.1_Silent_p.P139P|ZIC4_uc011bno.1_Silent_p.P259P	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	209	C2H2-type 3.					nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						TCCCACACCCCGGGAAAGGAC	0.532		NA											18	107					6.94e-10	8.82e-10	1	0
GMPS	8833	broad.mit.edu	37	3	155623996	155623996	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:155623996T>C	uc003faq.2	+	5	805	c.470T>C	c.(469-471)GTA>GCA	p.V157A	GMPS_uc011bom.1_Missense_Mutation_p.V58A	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	157	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGATAGTGTAGACAAAGTA	0.323		NA	T	MLL	AML								90	109					0	0	0	0
SMC4	10051	broad.mit.edu	37	3	160148867	160148867	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:160148867A>C	uc003fdh.2	+	20	3101	c.2988A>C	c.(2986-2988)GAA>GAC	p.E996D	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.E971D|SMC4_uc003fdj.2_Missense_Mutation_p.E996D|SMC4_uc010hwd.2_Intron|SMC4_uc003fdl.2_Missense_Mutation_p.E699D	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	996	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTTCAAGAATTAAAAGTTA	0.328		NA											12	100					0	0	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198783	170198783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:170198783G>A	uc003fgz.2	-	7	1604	c.1288C>T	c.(1288-1290)CGA>TGA	p.R430*	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	430						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGTTGGTATCGAAGGAGCAAG	0.512		NA											8	82					0	0	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184932	175184932	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:175184932G>C	uc003fit.2	+	8	1580	c.1493G>C	c.(1492-1494)GGA>GCA	p.G498A	NAALADL2_uc003fiu.1_Missense_Mutation_p.G491A|NAALADL2_uc010hwy.1_Missense_Mutation_p.G272A|NAALADL2_uc010hwz.1_Missense_Mutation_p.G92A	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	498	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCTTGGGGAGGAACAGCTTTT	0.388		NA											7	102					0	0	0	0
CLDN16	10686	broad.mit.edu	37	3	190126229	190126229	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:190126229T>A	uc003fsi.2	+	4	787	c.719T>A	c.(718-720)ATG>AAG	p.M240K	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	240	Helical; (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGGCTCGGAATGGCTGGGTCT	0.388		NA											6	240					0	0	0	0
COL25A1	84570	broad.mit.edu	37	4	110223145	110223145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:110223145C>T	uc003hze.1	-	2	562	c.31G>A	c.(31-33)GGG>AGG	p.G11R	COL25A1_uc003hzg.2_Missense_Mutation_p.G11R|COL25A1_uc003hzh.1_Missense_Mutation_p.G11R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	11	Cytoplasmic (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCCGGCCCCCTCCTTTCCCT	0.637		NA											9	34					0	0	0	0
TRPC3	7222	broad.mit.edu	37	4	122836027	122836027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:122836027G>A	uc003ieg.2	-	4	1323	c.1249C>T	c.(1249-1251)CAG>TAG	p.Q417*	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Nonsense_Mutation_p.Q344*|TRPC3_uc011cgl.1_Nonsense_Mutation_p.Q81*	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	332	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GCTATGGTCTGCTCCCTTAGG	0.547		NA											5	26					0	0	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249348	123249348	+	Silent	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:123249348G>C	uc003ieh.2	+	64	11130	c.11085G>C	c.(11083-11085)GTG>GTC	p.V3695V	KIAA1109_uc003iem.2_Silent_p.V86V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3695					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CATGTTCTGTGTTCAGTTCTC	0.438		NA											8	65					0	0	0	0
PCDH10	57575	broad.mit.edu	37	4	134072460	134072460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:134072460G>A	uc003iha.2	+	1	1991	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E389K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	389	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGACTCAGAGGAGAATGGGCA	0.597		NA											15	111					0	0	0	0
INPP4B	8821	broad.mit.edu	37	4	143191916	143191916	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:143191916C>G	uc003iix.3	-	11	1110	c.515G>C	c.(514-516)GGT>GCT	p.G172A	INPP4B_uc003iiw.3_Missense_Mutation_p.G172A|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_5'UTR|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.G43A	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	172					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					CACTTTGCCACCATCTGAAGT	0.448		NA											4	55					0	0	0	0
USP38	84640	broad.mit.edu	37	4	144135671	144135671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:144135671C>T	uc003ijb.2	+	9	3076	c.2542C>T	c.(2542-2544)CAC>TAC	p.H848Y	USP38_uc003ija.3_Missense_Mutation_p.H848Y|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	848					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					CGTTGTGGTTCACTCTGGTAT	0.413		NA											7	38					0	0	0	0
TKTL2	84076	broad.mit.edu	37	4	164394370	164394370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:164394370G>C	uc003iqp.3	-	1	678	c.517C>G	c.(517-519)CAC>GAC	p.H173D		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	173						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAGTTGTAGTGGGAGGCAAAA	0.552		NA											9	52					0	0	0	0
GPM6A	2823	broad.mit.edu	37	4	176622906	176622906	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:176622906C>A	uc003iuf.2	-	2	854	c.50G>T	c.(49-51)TGC>TTC	p.C17F	GPM6A_uc011ckj.1_Missense_Mutation_p.C10F|GPM6A_uc003iug.2_Missense_Mutation_p.C17F|GPM6A_uc003iuh.2_Missense_Mutation_p.C6F	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	17	Cytoplasmic (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTTGATACAGCATTCAAAACA	0.428		NA											8	73					0.000157383	0.000177647	1	0
WDR17	116966	broad.mit.edu	37	4	177071267	177071267	+	Silent	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr4:177071267A>G	uc003iuj.2	+	16	2349	c.2193A>G	c.(2191-2193)GAA>GAG	p.E731E	WDR17_uc003iuk.2_Silent_p.E707E|WDR17_uc003ium.3_Silent_p.E707E|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	731										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGAAATAGAAAAACTAACTG	0.348		NA											8	29					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	10992697	10992697	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:10992697G>C	uc003jfa.1	-	19	3322	c.3177C>G	c.(3175-3177)ATC>ATG	p.I1059M	CTNND2_uc010itt.2_Missense_Mutation_p.I968M|CTNND2_uc011cmy.1_Missense_Mutation_p.I722M|CTNND2_uc011cmz.1_Missense_Mutation_p.I626M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I651M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1059					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCACAGGGGAGATGGAGGGCG	0.577		NA											31	59					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11111052	11111052	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:11111052A>C	uc003jfa.1	-	14	2526	c.2381T>G	c.(2380-2382)CTC>CGC	p.L794R	CTNND2_uc010itt.2_Missense_Mutation_p.L703R|CTNND2_uc011cmy.1_Missense_Mutation_p.L457R|CTNND2_uc011cmz.1_Missense_Mutation_p.L361R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.L361R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	794					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CTCGCCACAGAGTAGCCCGTC	0.552		NA											34	224					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:11565132C>T	uc003jfa.1	-	3	356	c.211G>A	c.(211-213)GCT>ACT	p.A71T	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	71	Potential.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TGCCGTTCAGCCTCCAGCTCT	0.502		NA											6	38					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13717426	13717426	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13717426T>G	uc003jfd.2	-	73	12745	c.12703A>C	c.(12703-12705)AAG>CAG	p.K4235Q	DNAH5_uc003jfc.2_Missense_Mutation_p.K403Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4235					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGCAGTACCTTTTTGACATCC	0.507		NA							Kartagener_syndrome				3	18					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13788883	13788883	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13788883C>T	uc003jfd.2	-	51	8631	c.8589G>A	c.(8587-8589)GTG>GTA	p.V2863V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2863					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTCCACAATCCACCAAGAGTT	0.413		NA							Kartagener_syndrome				38	86					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13864670	13864670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13864670C>T	uc003jfd.2	-	28	4474	c.4432G>A	c.(4432-4434)GAG>AAG	p.E1478K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1478	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGGCAACACTCGCTGAAATCA	0.527		NA							Kartagener_syndrome				9	45					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13885171	13885171	+	Silent	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:13885171A>C	uc003jfd.2	-	19	2952	c.2910T>G	c.(2908-2910)CTT>CTG	p.L970L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	970	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TAACTTTCAGAAGAGCATCCA	0.418		NA							Kartagener_syndrome				21	83					0	0	0	0
CDH18	1016	broad.mit.edu	37	5	19721468	19721468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:19721468C>A	uc003jgc.2	-	4	1008	c.631G>T	c.(631-633)GAC>TAC	p.D211Y	CDH18_uc003jgd.2_Missense_Mutation_p.D211Y|CDH18_uc011cnm.1_Missense_Mutation_p.D211Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	211	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTTTAGGGTCGACGGAGAAG	0.448		NA											30	72					9.65e-13	1.28e-12	1	0
CDH12	1010	broad.mit.edu	37	5	21752180	21752180	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:21752180A>G	uc010iuc.2	-	12	2509	c.2051T>C	c.(2050-2052)ATT>ACT	p.I684T	CDH12_uc011cno.1_Missense_Mutation_p.I644T|CDH12_uc003jgk.2_Missense_Mutation_p.I684T|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GTTCTCCTCAATCACTTTTGG	0.458		NA								HNSCC(59;0.17)			8	64					0	0	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750005	140750005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr5:140750005G>T	uc003ljw.1	+	1	44	c.44G>T	c.(43-45)CGA>CTA	p.R15L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.R15L	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	15					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGAGGCGAATGCTATTT	0.552		NA											17	31					1.15e-07	1.41e-07	1	0
HIST1H3H	8357	broad.mit.edu	37	6	27777865	27777865	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:27777865A>T	uc003njm.2	+	1	24	c.14A>T	c.(13-15)AAG>ATG	p.K5M	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	5					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GCGCGTACGAAGCAGACTGCT	0.567		NA											20	35					0	0	0	0
GPX5	2880	broad.mit.edu	37	6	28500099	28500099	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:28500099T>G	uc003nll.2	+	4	363	c.361T>G	c.(361-363)TAT>GAT	p.Y121D	GPX5_uc003nlm.2_Silent_p.G81G|GPX5_uc003nln.2_RNA	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	121					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)	TTGTTGCAGGTATGTCCGTCC	0.428		NA											6	41					0	0	0	0
SNRPC	6631	broad.mit.edu	37	6	34741320	34741320	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:34741320G>A	uc003ojt.1	+	6	468	c.453G>A	c.(451-453)CGG>CGA	p.R151R		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	151					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						TGCCCACTCGGCCCGGAATGA	0.557		NA											10	47					0	0	0	0
ZNF318	24149	broad.mit.edu	37	6	43325349	43325349	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:43325349C>T	uc003oux.2	-	3	781	c.703G>A	c.(703-705)GAT>AAT	p.D235N	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	235					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGACTATAATCAGATCGATGC	0.458		NA											13	91					0	0	0	0
POLR1C	9533	broad.mit.edu	37	6	43488440	43488440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:43488440G>A	uc003ovn.2	+	7	790	c.733G>A	c.(733-735)GTG>ATG	p.V245M	POLR1C_uc003ovo.1_Missense_Mutation_p.V245M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	245					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCTTGAGCCCGTGGAAGGGGA	0.537		NA											6	105					0	0	0	0
MUT	4594	broad.mit.edu	37	6	49425487	49425487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:49425487C>A	uc003ozg.3	-	3	925	c.670G>T	c.(670-672)GAA>TAA	p.E224*		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	224					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCATAAATTCCTTTAGTATA	0.328		NA											17	25					8.6e-14	1.16e-13	1	0
RIMS1	22999	broad.mit.edu	37	6	72892001	72892001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:72892001G>C	uc003pga.2	+	6	904	c.827G>C	c.(826-828)GGG>GCG	p.G276A	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	276					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGACCCCAGGGCTTTCCGAG	0.488		NA											17	38					0	0	0	0
FUT9	10690	broad.mit.edu	37	6	96651233	96651233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:96651233G>T	uc003pop.3	+	3	543	c.202G>T	c.(202-204)GTG>TTG	p.V68L		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	68	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TACTATTCTGGTGTGGGTGTG	0.438		NA											15	61					4.75e-09	5.97e-09	1	0
GRIK2	2898	broad.mit.edu	37	6	102074485	102074485	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:102074485G>T	uc003pqp.3	+	3	763	c.514G>T	c.(514-516)GTC>TTC	p.V172F	GRIK2_uc003pqn.2_Missense_Mutation_p.V172F|GRIK2_uc003pqo.3_Missense_Mutation_p.V172F|GRIK2_uc010kcw.2_Missense_Mutation_p.V172F	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	172	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTGGAAAACCGTCACGGTTGT	0.408		NA											10	47					5.51e-06	6.48e-06	1	0
ZBTB24	9841	broad.mit.edu	37	6	109787534	109787534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr6:109787534C>A	uc003ptl.1	-	7	1782	c.1614G>T	c.(1612-1614)CAG>CAT	p.Q538H	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q482H|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGGCTGTAGCTGAAGAATAT	0.453		NA											25	52					3.17e-13	4.25e-13	1	0
DNAH11	8701	broad.mit.edu	37	7	21678667	21678667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:21678667G>A	uc003svc.2	+	28	4974	c.4943G>A	c.(4942-4944)GGA>GAA	p.G1648E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1648	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTCTCAAAAGGAGCTCAGCCT	0.403		NA							Kartagener_syndrome				22	17					0	0	0	0
SRRM3	222183	broad.mit.edu	37	7	75912371	75912371	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:75912371A>G	uc010ldi.2	+	14	1894	c.1685A>G	c.(1684-1686)AAG>AGG	p.K562R	SRRM3_uc003uet.1_5'UTR	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						CCCATCCGCAAGCGGCGCCGG	0.761		NA											4	11					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81626562	81626562	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:81626562G>T	uc003uhr.1	-	19	1851	c.1595C>A	c.(1594-1596)CCC>CAC	p.P532H		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	551	Extracellular (Potential).|Cache.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGAGATTTGGGGTTCTACAC	0.333		NA											23	89					5.45e-15	7.47e-15	1	0
COG5	10466	broad.mit.edu	37	7	106898718	106898718	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:106898718C>T	uc003ved.2	-	15	2304	c.1779G>A	c.(1777-1779)AAG>AAA	p.K593K	COG5_uc003vec.2_Silent_p.K593K|COG5_uc003vee.2_Silent_p.K593K	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	593					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						aaataGTTACCTTTGTTACTG	0.303		NA											8	80					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149522074	149522074	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:149522074T>C	uc010lpk.2	+	97	13861	c.13861T>C	c.(13861-13863)TGG>CGG	p.W4621R	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4621	TSP type-1 23.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGTCTGTGGGGGCCATG	0.647		NA											3	10					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2855570	2855570	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:2855570G>A	uc011kwk.1	-	54	8733	c.8343C>T	c.(8341-8343)AGC>AGT	p.S2781S	CSMD1_uc011kwj.1_Silent_p.S2110S|CSMD1_uc010lrg.2_Silent_p.S791S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2781	Extracellular (Potential).|Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTGGCCGTTGCTCCGACACT	0.547		NA											6	40					0	0	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998840	8998840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:8998840C>A	uc003wsn.3	-	2	487	c.322G>T	c.(322-324)GAG>TAG	p.E108*	PPP1R3B_uc003wso.3_Nonsense_Mutation_p.E107*	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	108					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACAAAGCTCTCGCTCTCTGCT	0.478		NA											12	56					5.51e-06	6.48e-06	1	0
DLC1	10395	broad.mit.edu	37	8	12943411	12943411	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:12943411G>T	uc003wwm.2	-	18	4940	c.4496C>A	c.(4495-4497)TCT>TAT	p.S1499Y	DLC1_uc003wwk.1_Missense_Mutation_p.S1062Y|DLC1_uc003wwl.1_Missense_Mutation_p.S1096Y|DLC1_uc011kxx.1_Missense_Mutation_p.S988Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1499	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ATGTCCAAAAGATTTTGTGTA	0.378		NA											20	49					1.02e-10	1.31e-10	1	0
MSR1	4481	broad.mit.edu	37	8	15978072	15978072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:15978072G>T	uc003wwz.2	-	9	1275	c.1077C>A	c.(1075-1077)CAC>CAA	p.H359Q	MSR1_uc010lsu.2_Missense_Mutation_p.H377Q|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	359	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCTCCCCTCGTGAGGGCCGC	0.483		NA											26	65					1.75e-13	2.36e-13	1	0
TEX15	56154	broad.mit.edu	37	8	30705035	30705035	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:30705035T>C	uc003xil.2	-	1	1499	c.1499A>G	c.(1498-1500)TAT>TGT	p.Y500C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	500										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTCTCCATATATGTTCTC	0.308		NA											18	88					0	0	0	0
LETM2	137994	broad.mit.edu	37	8	38261968	38261968	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:38261968A>T	uc003xlm.1	+	8	1192	c.1021A>T	c.(1021-1023)ACC>TCC	p.T341S	LETM2_uc011lbn.1_Missense_Mutation_p.T185S|LETM2_uc003xll.1_Missense_Mutation_p.T293S|LETM2_uc003xln.1_Missense_Mutation_p.T185S|LETM2_uc003xlo.1_Missense_Mutation_p.T185S	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	388	Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCTGTCCCGCACCTTCTACCT	0.557		NA											20	45					0	0	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570560	53570560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:53570560T>A	uc003xre.3	-	14	2476	c.1918A>T	c.(1918-1920)AAG>TAG	p.K640*	RB1CC1_uc003xrf.3_Nonsense_Mutation_p.K640*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	640					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAATTTGCCTTTTGTTCACTC	0.378		NA											26	84					0	0	0	0
KCNB2	9312	broad.mit.edu	37	8	73848938	73848938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:73848938G>A	uc003xzb.2	+	3	1936	c.1348G>A	c.(1348-1350)GTT>ATT	p.V450I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	450	Cytoplasmic (Potential).		V -> I (in a colorectal cancer sample; somatic mutation).		regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V450I(1)		skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CGGAAGCATCGTTTCTATGAA	0.473		NA											30	89					0	0	0	0
ODF1	4956	broad.mit.edu	37	8	103564144	103564144	+	Silent	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:103564144C>G	uc003ykt.2	+	1	297	c.189C>G	c.(187-189)CGC>CGG	p.R63R		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	63	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCGATCACGCTCTTGCGGCC	0.493		NA											42	110					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113585863	113585863	+	Silent	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:113585863C>T	uc003ynu.2	-	24	4068	c.3909G>A	c.(3907-3909)ACG>ACA	p.T1303T	CSMD3_uc003yns.2_Silent_p.T575T|CSMD3_uc003ynt.2_Silent_p.T1263T|CSMD3_uc011lhx.1_Silent_p.T1199T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1303	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTAGATGAGTCGTTTTATCTT	0.318		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	77					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113599379	113599379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:113599379G>T	uc003ynu.2	-	23	3960	c.3801C>A	c.(3799-3801)TGC>TGA	p.C1267*	CSMD3_uc003yns.2_Nonsense_Mutation_p.C539*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C1227*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C1163*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1267	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TACTATAAATGCATTCATGGT	0.383		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	66					2.22e-12	2.92e-12	1	0
ENPP2	5168	broad.mit.edu	37	8	120629736	120629736	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:120629736T>A	uc003yot.1	-	6	633	c.547A>T	c.(547-549)AGC>TGC	p.S183C	ENPP2_uc003yos.1_Missense_Mutation_p.S183C|ENPP2_uc010mdd.1_Missense_Mutation_p.S183C	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	183					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGACTTTGCTGCCTTTCTTC	0.398		NA											9	27					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164844	139164844	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr8:139164844T>A	uc003yuy.2	-	13	2045	c.1874A>T	c.(1873-1875)GAG>GTG	p.E625V	FAM135B_uc003yux.2_Missense_Mutation_p.E526V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E187V|FAM135B_uc003yvb.2_Missense_Mutation_p.E187V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	625										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCTTCCCCTCTTGATCTAT	0.463		NA								HNSCC(54;0.14)			12	107					0	0	0	0
KIAA1161	57462	broad.mit.edu	37	9	34370855	34370855	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:34370855A>C	uc003zue.3	-	3	2254	c.2087T>G	c.(2086-2088)CTG>CGG	p.L696R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	696	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATCGGTGAGCAGCACCGGCGT	0.637		NA											13	15					0	0	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907135	101907135	+	Silent	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:101907135T>C	uc004azc.2	+	6	1171	c.1095T>C	c.(1093-1095)ATT>ATC	p.I365I	TGFBR1_uc004azd.2_Silent_p.I288I|TGFBR1_uc011lvc.1_Silent_p.I296I	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	365	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				CAGATACCATTGATATTGCTC	0.348		NA											15	56					0	0	0	0
C9orf43	257169	broad.mit.edu	37	9	116185750	116185750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:116185750G>T	uc004bho.3	+	7	1024	c.628G>T	c.(628-630)GAA>TAA	p.E210*	C9orf43_uc004bhp.2_Nonsense_Mutation_p.E210*	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	210											0						GGCTCAATCCGAAGCGTTACC	0.498		NA											4	35					0.00909568	0.00960708	1	0
OR1N2	138882	broad.mit.edu	37	9	125315468	125315468	+	Missense_Mutation	SNP	G	G	A	rs141317564		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:125315468G>A	uc011lyx.1	+	1	20	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						TTTTATCTGCGCAGATCACAC	0.313		NA											9	66					0	0	0	0
DENND1A	57706	broad.mit.edu	37	9	126219701	126219701	+	Missense_Mutation	SNP	C	C	T	rs139898166		TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:126219701C>T	uc004bnz.1	-	15	1345	c.1112G>A	c.(1111-1113)CGA>CAA	p.R371Q	DENND1A_uc011lzl.1_Missense_Mutation_p.R146Q|DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Missense_Mutation_p.R339Q|DENND1A_uc004boa.1_Missense_Mutation_p.R371Q|DENND1A_uc004bob.1_Missense_Mutation_p.R341Q|DENND1A_uc004boc.2_Missense_Mutation_p.R339Q	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	371	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						AAGATCTAATCGACCATCAAT	0.433		NA											7	98					0	0	0	0
CIZ1	25792	broad.mit.edu	37	9	130941207	130941207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:130941207C>T	uc004btt.2	-	8	1442	c.1279G>A	c.(1279-1281)GTC>ATC	p.V427I	CIZ1_uc004btr.2_Intron|CIZ1_uc004bts.2_Missense_Mutation_p.V398I|CIZ1_uc011maq.1_Intron|CIZ1_uc004btu.2_Intron|CIZ1_uc011mar.1_Missense_Mutation_p.V326I|CIZ1_uc011mas.1_Missense_Mutation_p.V457I|CIZ1_uc004btw.2_Intron|CIZ1_uc004btv.2_Missense_Mutation_p.V427I|CIZ1_uc004btx.2_Missense_Mutation_p.V403I	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	427	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						TGTGTCTGGACCTGCTTCTGC	0.468		NA											5	119					0	0	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799269	133799269	+	Splice_Site	SNP	T	T	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:133799269T>A	uc004bzz.2	-	4	958	c.713_splice	c.e4-1	p.G238_splice	FIBCD1_uc011mcc.1_Splice_Site_p.G238_splice	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1						signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCGGGAGCCTGAGGGAGGCA	0.647		NA											8	64					0	0	0	0
TBL1X	6907	broad.mit.edu	37	X	9660274	9660274	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:9660274G>T	uc010ndq.2	+	9	1239	c.871G>T	c.(871-873)GTC>TTC	p.V291F	TBL1X_uc004csq.3_Missense_Mutation_p.V240F|TBL1X_uc010ndr.2_Missense_Mutation_p.V240F|TBL1X_uc004csr.2_Missense_Mutation_p.V291F|TBL1X_uc004css.2_Missense_Mutation_p.V242F	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	291	WD 2.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				TAACAAAGACGTCACCTCACT	0.557		NA											13	51					1.05e-09	1.33e-09	1	0
CLCN4	1183	broad.mit.edu	37	X	10188916	10188916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:10188916G>T	uc004csy.3	+	12	2621	c.2191G>T	c.(2191-2193)GGG>TGG	p.G731W	CLCN4_uc011mid.1_Missense_Mutation_p.G637W	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	731	CBS 2.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACGCGGAGCGGGTGAGTAGC	0.418		NA											21	56					1.56e-14	2.12e-14	1	0
CDKL5	6792	broad.mit.edu	37	X	18616687	18616687	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18616687G>T	uc004cym.2	+	11	1184	c.931G>T	c.(931-933)GCA>TCA	p.A311S	CDKL5_uc004cyn.2_Missense_Mutation_p.A311S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	311					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.A311T(1)		ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TTCAAGGTCAGCAAAAAGAAA	0.408		NA											14	77					1.58e-08	1.97e-08	1	0
PHKA2	5256	broad.mit.edu	37	X	18972377	18972377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:18972377C>A	uc004cyv.3	-	2	662	c.232G>T	c.(232-234)GAG>TAG	p.E78*	PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Nonsense_Mutation_p.E20*	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	78					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					ATTACCTGCTCCAGCTCGTAG	0.542		NA											30	75					2.61e-14	3.55e-14	1	0
DMD	1756	broad.mit.edu	37	X	32716006	32716006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:32716006C>T	uc004dda.1	-	9	1185	c.941G>A	c.(940-942)CGG>CAG	p.R314Q	DMD_uc004dcz.2_Missense_Mutation_p.R191Q|DMD_uc004dcy.1_Missense_Mutation_p.R310Q|DMD_uc004ddb.1_Missense_Mutation_p.R306Q|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.R306Q|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATGGGCTCCGTGTAGGGTC	0.453		NA											5	15					0	0	0	0
FAM47A	158724	broad.mit.edu	37	X	34150048	34150048	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:34150048C>A	uc004ddg.2	-	1	381	c.348G>T	c.(346-348)GCG>GCT	p.A116A		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	116										ovary(4)|central_nervous_system(1)	5						GCTCTACGAACGCCTTCCGTG	0.552		NA											16	74					4.15e-12	5.42e-12	1	0
BCOR	54880	broad.mit.edu	37	X	39913236	39913236	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39913236C>A	uc004den.3	-	14	5171	c.4879G>T	c.(4879-4881)GAT>TAT	p.D1627Y	BCOR_uc004dep.3_Missense_Mutation_p.D1593Y|BCOR_uc004deo.3_Missense_Mutation_p.D1575Y|BCOR_uc010nhb.2_Missense_Mutation_p.D335Y|BCOR_uc004dem.3_Missense_Mutation_p.D1593Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1627	Poly-Asp.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TCATCATCATCCTGGTCTTCT	0.448		NA											5	21					5.94e-07	7.17e-07	1	0
BCOR	54880	broad.mit.edu	37	X	39913587	39913587	+	Splice_Site	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39913587C>T	uc004den.3	-	13	5034	c.4742_splice	c.e13-1	p.D1581_splice	BCOR_uc004dep.3_Splice_Site_p.D1547_splice|BCOR_uc004deo.3_Splice_Site_p.D1529_splice|BCOR_uc010nhb.2_Splice_Site_p.D289_splice|BCOR_uc004dem.3_Splice_Site_p.D1547_splice	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c						heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TTTAAATAATCTGGAGGGAGA	0.423		NA											5	15					0	0	0	0
BCOR	54880	broad.mit.edu	37	X	39933796	39933796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:39933796G>T	uc004den.3	-	4	1095	c.803C>A	c.(802-804)TCG>TAG	p.S268*	BCOR_uc004dep.3_Nonsense_Mutation_p.S268*|BCOR_uc004deo.3_Nonsense_Mutation_p.S268*|BCOR_uc004dem.3_Nonsense_Mutation_p.S268*|BCOR_uc004deq.3_Nonsense_Mutation_p.S268*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	268					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CGAAGGTGTCGAGAGCCTCAT	0.612		NA											5	16					0.000602214	0.000659927	1	0
PORCN	64840	broad.mit.edu	37	X	48374170	48374170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:48374170G>A	uc010nie.1	+	11	1170	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	PORCN_uc004djr.1_Missense_Mutation_p.A333T|PORCN_uc004djs.1_Missense_Mutation_p.A327T|PORCN_uc004djt.1_Missense_Mutation_p.A256T|PORCN_uc011mlx.1_Missense_Mutation_p.A256T|PORCN_uc004dju.1_Missense_Mutation_p.A196T|PORCN_uc004djv.1_Missense_Mutation_p.A338T|PORCN_uc004djw.1_Missense_Mutation_p.A332T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	338	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						TGCAGCCAGCGCCCTCCTACA	0.567		NA											11	40					0	0	0	0
CLCN5	1184	broad.mit.edu	37	X	49853388	49853388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:49853388G>A	uc004dos.1	+	9	1629	c.1381G>A	c.(1381-1383)GTT>ATT	p.V461I	CLCN5_uc004dor.1_Missense_Mutation_p.V531I|CLCN5_uc004doq.1_Missense_Mutation_p.V531I|CLCN5_uc004dot.1_Missense_Mutation_p.V461I	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	461	Helical; (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					TAGCATGGCTGTTGGTGCTAT	0.483		NA											39	121					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53619397	53619397	+	Silent	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:53619397G>A	uc004dsp.2	-	33	4335	c.3933C>T	c.(3931-3933)TCC>TCT	p.S1311S	HUWE1_uc004dsn.2_Silent_p.S136S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1311					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GTTCCCGGCGGGAGCCACCTT	0.557		NA											28	75					0	0	0	0
FGD1	2245	broad.mit.edu	37	X	54472832	54472832	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54472832G>C	uc004dtg.2	-	18	3330	c.2596C>G	c.(2596-2598)CGC>GGC	p.R866G		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	866	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGCAGGCTGCGCTGGGCTTTC	0.632		NA											10	24					0	0	0	0
FGD1	2245	broad.mit.edu	37	X	54482960	54482960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54482960A>T	uc004dtg.2	-	9	2411	c.1677T>A	c.(1675-1677)AAT>AAA	p.N559K	FGD1_uc011moi.1_Missense_Mutation_p.N317K	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	559	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGATGGCAGCATTCGAGTGCT	0.607		NA											3	28					0	0	0	0
PFKFB1	5207	broad.mit.edu	37	X	54985328	54985328	+	Silent	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:54985328G>T	uc004dty.1	-	5	486	c.415C>A	c.(415-417)CGA>AGA	p.R139R	PFKFB1_uc010nkd.1_Silent_p.R125R|PFKFB1_uc011mol.1_Silent_p.R74R	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	139	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						AGTGACCGTCGTTCTCTGGTA	0.453		NA											32	98					1.27e-14	1.73e-14	1	0
KIAA2022	340533	broad.mit.edu	37	X	73962022	73962022	+	Silent	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:73962022C>A	uc004eby.2	-	3	2987	c.2370G>T	c.(2368-2370)ACG>ACT	p.T790T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	790					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AAGAGCATGTCGTTGGTAGAA	0.403		NA											4	67					1.24e-05	1.45e-05	1	0
ATRX	546	broad.mit.edu	37	X	76938250	76938250	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:76938250G>T	uc004ecp.3	-	9	2730	c.2498C>A	c.(2497-2499)GCT>GAT	p.A833D	ATRX_uc004ecq.3_Missense_Mutation_p.A795D|ATRX_uc004eco.3_Missense_Mutation_p.A618D|ATRX_uc004ecr.2_Missense_Mutation_p.A765D|ATRX_uc010nlx.1_Missense_Mutation_p.A804D|ATRX_uc010nly.1_Missense_Mutation_p.A778D	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	833					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GGTTCTGGcagcaccaatttt	0.224		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						22	154					2.38e-13	3.19e-13	1	0
GLA	2717	broad.mit.edu	37	X	100656686	100656686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:100656686C>T	uc004ehl.1	-	3	591	c.481G>A	c.(481-483)GAC>AAC	p.D161N	GLA_uc011mrj.1_Missense_Mutation_p.D161N	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	161					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	ACTCCCCAGTCAGCAAAGGTC	0.433		NA											52	85					0	0	0	0
NRK	203447	broad.mit.edu	37	X	105153085	105153085	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:105153085G>T	uc004emd.2	+	13	1755	c.1452G>T	c.(1450-1452)CAG>CAT	p.Q484H	NRK_uc010npc.1_Missense_Mutation_p.Q152H	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	484	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TACAGGCACAGGTTAGGGCAC	0.542		NA								HNSCC(51;0.14)			5	39					1.02e-07	1.26e-07	1	0
PLS3	5358	broad.mit.edu	37	X	114869295	114869295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:114869295G>A	uc004eqd.2	+	7	1075	c.685G>A	c.(685-687)GGA>AGA	p.G229R	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.G207R|PLS3_uc004eqe.2_Missense_Mutation_p.G229R|PLS3_uc011mtg.1_Missense_Mutation_p.G202R|PLS3_uc011mth.1_Missense_Mutation_p.G184R	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	229	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						TCTGGTTTTGGGACTGCTTTG	0.438		NA											11	112					0	0	0	0
SLC25A14	9016	broad.mit.edu	37	X	129484680	129484680	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:129484680T>C	uc004evn.1	+	6	686	c.473T>C	c.(472-474)ATA>ACA	p.I158T	SLC25A14_uc011mut.1_Intron|SLC25A14_uc011muu.1_Missense_Mutation_p.I158T|SLC25A14_uc010nrg.2_Missense_Mutation_p.I155T|SLC25A14_uc004evo.1_Intron|SLC25A14_uc004evp.1_Missense_Mutation_p.I158T|SLC25A14_uc004evq.1_Missense_Mutation_p.I155T|SLC25A14_uc004evr.1_Missense_Mutation_p.I155T	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	158	Solcar 2.|Helical; Name=3; (Potential).				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1						TCTTCCACTATAGCCAATCCC	0.239		NA											6	58					0	0	0	0
GPR101	83550	broad.mit.edu	37	X	136112567	136112567	+	Missense_Mutation	SNP	C	C	T	rs143030995	byFrequency	TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:136112567C>T	uc011mwh.1	-	1	1267	c.1267G>A	c.(1267-1269)GTG>ATG	p.V423M		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	423	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TCCACCCACACGGCCAGGACT	0.517		NA											8	57					0	0	0	0
SLC6A8	6535	broad.mit.edu	37	X	152960179	152960179	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:152960179C>G	uc004fib.3	+	12	1880	c.1602C>G	c.(1600-1602)ATC>ATG	p.I534M	SLC6A8_uc004fic.3_Missense_Mutation_p.I524M|SLC6A8_uc011myx.1_Missense_Mutation_p.I419M|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	534	Helical; (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)	CGTAGGGCATCTTCATCTTCA	0.433		NA											10	30					0	0	0	0
NAA10	8260	broad.mit.edu	37	X	153195468	153195468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chrX:153195468C>A	uc004fjm.1	-	8	791	c.680G>T	c.(679-681)AGC>ATC	p.S227I	NAA10_uc004fjn.1_Missense_Mutation_p.S212I	NM_003491	NP_003482	P41227	NAA10_HUMAN	alpha-N-acetyltransferase 1A	227					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)	1						GGCCTCTGAGCTGTCCTTGAC	0.602		NA											5	62					0.00116845	0.00125943	1	0
FAM5C	339479	broad.mit.edu	37	1	190067913	190067913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr1:190067913delG	uc001gse.1	-	8	1768	c.1536delC	c.(1534-1536)GCCfs	p.A512fs	FAM5C_uc010pot.1_Frame_Shift_Del_p.A410fs	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	512						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGATAAAAATGGCATGGACTT	0.463		NA											18	100	---	---	---	---	NA	NA	NA	NA
CLDND2	125875	broad.mit.edu	37	19	51871727	51871729	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr19:51871727_51871729delTTG	uc002pwi.1	-	1	529_531	c.103_105delCAA	c.(103-105)CAAdel	p.Q35del	ETFB_uc002pwh.2_5'Flank	NM_152353	NP_689566	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	35						integral to membrane					0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTGGCCCTCTTGTTGGCGGGTC	0.64		NA											23	66	---	---	---	---	NA	NA	NA	NA
IP6K2	51447	broad.mit.edu	37	3	48725981	48725982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr3:48725981_48725982insA	uc003cup.2	-	6	1249_1250	c.1005_1006insT	c.(1003-1008)TATGATfs	p.Y335fs	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Frame_Shift_Ins_p.Y335fs	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	335_336					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						TCCTTGCCATCATAAATGACCA	0.554		NA											30	49	---	---	---	---	NA	NA	NA	NA
CUX1	1523	broad.mit.edu	37	7	101747722	101747723	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr7:101747722_101747723insT	uc003uyx.3	+	6	551_552	c.513_514insT	c.(511-516)GACTTTfs	p.D171fs	CUX1_uc003uys.3_Frame_Shift_Ins_p.D182fs|CUX1_uc003uyt.2_Frame_Shift_Ins_p.D182fs|CUX1_uc011kkn.1_Frame_Shift_Ins_p.D145fs|CUX1_uc003uyw.2_Frame_Shift_Ins_p.D136fs|CUX1_uc003uyv.2_Frame_Shift_Ins_p.D166fs|CUX1_uc003uyu.2_Frame_Shift_Ins_p.D182fs	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	171_172	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TACAGAATGACTTTGCAGAAAA	0.421		NA											22	131	---	---	---	---	NA	NA	NA	NA
KIF27	55582	broad.mit.edu	37	9	86506407	86506407	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5978-01A-11D-1683-08	TCGA-CV-5978-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	791d4f3f-90e0-4fa5-9671-9b5f04ed3eca	341f596e-2ef6-46bb-a500-80ce88e51f36	g.chr9:86506407delT	uc004ana.2	-	6	1756	c.1612delA	c.(1612-1614)ATAfs	p.I538fs	KIF27_uc010mpw.2_Frame_Shift_Del_p.I538fs|KIF27_uc010mpx.2_Frame_Shift_Del_p.I538fs	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	538	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TGTTCTATTATTTTTTCATTC	0.303		NA											7	30	---	---	---	---	NA	NA	NA	NA