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
MEGF6	1953	broad.mit.edu	37	1	3428684	3428684	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:3428684C>T	uc001akl.2	-	8	1089	c.862G>A	c.(862-864)GAA>AAA	p.E288K	MEGF6_uc001akk.2_Missense_Mutation_p.E183K	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	288	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGGCACATTCGTCCACATCT	0.647		NA											30	95					0	0	0	0
TGFBR3	7049	broad.mit.edu	37	1	92161270	92161270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:92161270G>A	uc001doh.2	-	16	2862	c.2396C>T	c.(2395-2397)GCA>GTA	p.A799V	TGFBR3_uc009wde.2_Missense_Mutation_p.A494V|TGFBR3_uc010osy.1_Missense_Mutation_p.A757V|TGFBR3_uc001doi.2_Missense_Mutation_p.A798V|TGFBR3_uc001doj.2_Missense_Mutation_p.A798V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	799	Helical; (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTCAGGAGTGCTCCGATCAC	0.473		NA											17	34					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152187759	152187759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:152187759G>A	uc001ezt.1	-	3	6422	c.6346C>T	c.(6346-6348)CAG>TAG	p.Q2116*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2116	23				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGGACTGCCCTGAGCTA	0.582		NA											11	494					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152281685	152281685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:152281685C>T	uc001ezu.1	-	3	5713	c.5677G>A	c.(5677-5679)GAC>AAC	p.D1893N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1893	Ser-rich.|Filaggrin 11.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCTGTCGGCCCGAGAG	0.572		NA							Ichthyosis				56	235					0	0	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204210594	204210594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:204210594G>C	uc001hau.2	-	17	2635	c.2318C>G	c.(2317-2319)CCT>CGT	p.P773R	PLEKHA6_uc009xau.1_RNA	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	773										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTTGTCCGAGGGGGCACAAC	0.572		NA											3	15					0	0	0	0
MPP7	143098	broad.mit.edu	37	10	28413008	28413008	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:28413008G>A	uc001iua.1	-	10	971	c.567C>T	c.(565-567)AAC>AAT	p.N189N	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.N189N|MPP7_uc009xla.2_Silent_p.N189N|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	189	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						CTGGTATCCCGTTGACTTCCC	0.358		NA											8	78					0	0	0	0
WDR11	55717	broad.mit.edu	37	10	122622272	122622272	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:122622272C>T	uc010qtf.1	+	5	790	c.552C>T	c.(550-552)TTC>TTT	p.F184F	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	184						integral to membrane					0						GTATTGTTTTCATCTCAGACT	0.418		NA											39	133					0	0	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:534288C>T	uc001lpv.2	-	2	223	c.35G>A	c.(34-36)GGC>GAC	p.G12D	HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			15	20					0	0	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642827	1642827	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:1642827G>C	uc009ycy.1	-	4	722	c.635C>G	c.(634-636)TCC>TGC	p.S212C		NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	226	9 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCTGAGGAGGAGCAGCAGGG	0.607		NA											4	165					0	0	0	0
ST5	6764	broad.mit.edu	37	11	8772184	8772184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:8772184G>A	uc001mgt.2	-	2	250	c.64C>T	c.(64-66)CGG>TGG	p.R22W	ST5_uc009yfr.2_Missense_Mutation_p.R22W|ST5_uc001mgu.2_Missense_Mutation_p.R22W|ST5_uc001mgv.2_Missense_Mutation_p.R22W|ST5_uc010rbq.1_RNA|ST5_uc001mgw.1_Missense_Mutation_p.R22W	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	22					positive regulation of ERK1 and ERK2 cascade		protein binding	p.R22W(1)		upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGAGTCCCCCGAGGGGCTTTA	0.552		NA											117	191					0	0	0	0
DKK3	27122	broad.mit.edu	37	11	11986065	11986065	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:11986065C>T	uc001mju.2	-	7	1056	c.999G>A	c.(997-999)GCG>GCA	p.A333A	DKK3_uc010rcf.1_Silent_p.A305A|DKK3_uc001mjv.2_Silent_p.A333A|DKK3_uc001mjw.2_Silent_p.A333A|DKK3_uc010rcg.1_Silent_p.A347A	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	333					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		GCTCCCTCAGCGCCATCTCTT	0.577		NA											15	118					0	0	0	0
AGBL2	79841	broad.mit.edu	37	11	47707594	47707594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47707594C>T	uc001ngg.2	-	10	1739	c.1639G>A	c.(1639-1641)GAA>AAA	p.E547K	AGBL2_uc001ngf.2_Intron|AGBL2_uc010rhq.1_Missense_Mutation_p.E509K|AGBL2_uc001ngh.1_Missense_Mutation_p.E491K	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	547					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TCTCTTTCTTCAAGAAGTCTA	0.383		NA											14	38					0	0	0	0
NUP160	23279	broad.mit.edu	37	11	47833636	47833636	+	Silent	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47833636A>G	uc001ngm.2	-	17	2306	c.2221T>C	c.(2221-2223)TTA>CTA	p.L741L	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	741					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						AGCCTCATTAACAGCTGCTGT	0.408		NA											5	42					0	0	0	0
TRIM48	79097	broad.mit.edu	37	11	55032498	55032498	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55032498A>G	uc010rid.1	+	2	253	c.167A>G	c.(166-168)TAC>TGC	p.Y56C		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	40	RING-type.					intracellular	zinc ion binding				0						CCCTGTTTCTACCTCAACTGG	0.458		NA											23	96					0	0	0	0
OR4C15	81309	broad.mit.edu	37	11	55322467	55322467	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55322467C>A	uc010rig.1	+	1	685	c.685C>A	c.(685-687)CAC>AAC	p.H229N		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGTCATCAATCACTTTATGTG	0.468		NA								HNSCC(20;0.049)			11	33					3.86e-05	4.2e-05	1	0
SF1	7536	broad.mit.edu	37	11	64544069	64544069	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:64544069G>A	uc001obb.1	-	2	438	c.61C>T	c.(61-63)CGC>TGC	p.R21C	SF1_uc010rnn.1_5'UTR|SF1_uc001oaz.1_Missense_Mutation_p.R146C|SF1_uc001oba.1_Missense_Mutation_p.R21C|SF1_uc001obc.1_Missense_Mutation_p.R21C|SF1_uc001obd.1_Missense_Mutation_p.R21C|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Missense_Mutation_p.R21C	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	21				R->K: No effect.|R->A: Decreases interaction with U2AF2 and spliceosome assembly.	nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TGGTTCCAGCGGCTCCTCTTC	0.428		NA											8	68					0	0	0	0
CNTN5	53942	broad.mit.edu	37	11	99690283	99690283	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:99690283A>G	uc001pga.2	+	4	403	c.64A>G	c.(64-66)AAA>GAA	p.K22E	CNTN5_uc009ywv.1_Missense_Mutation_p.K22E|CNTN5_uc001pfz.2_Missense_Mutation_p.K22E|CNTN5_uc001pgb.2_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	22					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAGTATTCAAAATCTCTTCC	0.308		NA											3	67					0	0	0	0
ETV6	2120	broad.mit.edu	37	12	12022544	12022544	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:12022544G>C	uc001qzz.2	+	5	924	c.650G>C	c.(649-651)AGA>ACA	p.R217T	ETV6_uc001raa.1_Missense_Mutation_p.R10T	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	217						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R217T(1)	ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGCTGAGAGAGCTCAGGGA	0.632		NA	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								18	95					0	0	0	0
DENND5B	160518	broad.mit.edu	37	12	31613307	31613307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:31613307G>A	uc001rki.1	-	4	1099	c.913C>T	c.(913-915)CGC>TGC	p.R305C	DENND5B_uc001rkh.1_Missense_Mutation_p.R340C|DENND5B_uc009zjq.1_Missense_Mutation_p.R224C|DENND5B_uc001rkj.2_Missense_Mutation_p.R327C|DENND5B_uc001rkk.1_Missense_Mutation_p.R227C	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	305	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GTCATCAGGCGTTGATAATCT	0.393		NA											7	28					0	0	0	0
IKBIP	121457	broad.mit.edu	37	12	99007411	99007411	+	Silent	SNP	C	C	T	rs142399666	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:99007411C>T	uc001tfv.2	-	3	1115	c.1005G>A	c.(1003-1005)GAG>GAA	p.E335E	IKBIP_uc001tfw.2_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	335					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TATCCTTAATCTCAGCTTGGA	0.308		NA											10	56					0	0	0	0
APPL2	55198	broad.mit.edu	37	12	105597508	105597508	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:105597508A>G	uc001tlf.1	-	9	895	c.677T>C	c.(676-678)TTA>TCA	p.L226S	APPL2_uc010swt.1_Missense_Mutation_p.L183S|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.L232S|APPL2_uc009zuq.2_Missense_Mutation_p.L183S	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	226	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.L226S(1)		upper_aerodigestive_tract(1)	1						AACGGAGGATAAAAAGCTGTC	0.433		NA											43	170					0	0	0	0
ACAD10	80724	broad.mit.edu	37	12	112167625	112167625	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:112167625G>T	uc001tsq.2	+	10	1459	c.1259G>T	c.(1258-1260)CGC>CTC	p.R420L	ACAD10_uc001tsp.2_Missense_Mutation_p.R420L|ACAD10_uc009zvx.2_Missense_Mutation_p.R451L|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	420							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TATATTCCACGCCAGGTACGA	0.473		NA											13	38					6.72e-11	8.02e-11	1	0
DDX54	79039	broad.mit.edu	37	12	113599136	113599136	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:113599136T>G	uc001tup.2	-	19	2380	c.2352A>C	c.(2350-2352)GAA>GAC	p.E784D	DDX54_uc001tuq.3_Missense_Mutation_p.E784D	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	784					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						ATGCCCCTTCTTCGTCCGAGT	0.577		NA											10	51					0	0	0	0
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:117914339G>A	uc001two.2	-	17	2480	c.2425C>T	c.(2425-2427)CGC>TGC	p.R809C		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582		NA											7	7					0	0	0	0
TDRD3	81550	broad.mit.edu	37	13	61084005	61084005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr13:61084005C>G	uc001via.2	+	9	1476	c.688C>G	c.(688-690)CTT>GTT	p.L230V	TDRD3_uc010aef.2_Missense_Mutation_p.L55V|TDRD3_uc001vhz.3_Missense_Mutation_p.L230V|TDRD3_uc010aeg.2_Missense_Mutation_p.L323V|TDRD3_uc001vib.3_Missense_Mutation_p.L229V	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	230	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.L230V(1)		upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTGAACGTACTTCTTACAAG	0.408		NA											18	76					0	0	0	0
ADAM21	8747	broad.mit.edu	37	14	70924430	70924430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:70924430C>T	uc001xmd.2	+	1	214	c.214C>T	c.(214-216)CAC>TAC	p.H72Y		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	72					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGCCAGAAACACGTTGTTCA	0.527		NA											15	109					0	0	0	0
LGMN	5641	broad.mit.edu	37	14	93172970	93172970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:93172970C>T	uc001yav.2	-	13	1375	c.1049G>A	c.(1048-1050)CGT>CAT	p.R350H	LGMN_uc001yat.2_Intron|LGMN_uc001yau.2_Intron|LGMN_uc001yaw.2_Missense_Mutation_p.R350H|LGMN_uc010aul.2_Missense_Mutation_p.R231H|LGMN_uc001yax.2_Intron|LGMN_uc001yay.2_Intron	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	350					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GACGATCTTACGCACTGACTT	0.637		NA											13	32					0	0	0	0
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:94674875C>T	uc001ycs.1	+	3	420	c.266C>T	c.(265-267)ACG>ATG	p.T89M	PPP4R4_uc001ycr.2_Missense_Mutation_p.T89M	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		skin(3)|upper_aerodigestive_tract(1)	4						CCCACTGAGACGCTTCGGAGA	0.388		NA											4	10					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25961901	25961901	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:25961901C>T	uc010ayu.2	-	9	1858	c.1752G>A	c.(1750-1752)ACG>ACA	p.T584T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	584	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATCCGGGGACGTGACGACGA	0.592		NA											13	86					0	0	0	0
ISLR2	57611	broad.mit.edu	37	15	74425583	74425583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:74425583C>T	uc002axd.2	+	4	1257	c.488C>T	c.(487-489)GCG>GTG	p.A163V	ISLR2_uc002axe.2_Missense_Mutation_p.A163V|ISLR2_uc010bjg.2_Missense_Mutation_p.A163V|ISLR2_uc010bjf.2_Missense_Mutation_p.A163V	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	163	Extracellular (Potential).|LRR 5.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGTACGCTGGCGCCTGGCACC	0.652		NA											22	95					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83331629	83331629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:83331629G>A	uc010uoh.1	-	22	2770	c.2593C>T	c.(2593-2595)CGG>TGG	p.R865W	AP3B2_uc010uoi.1_Missense_Mutation_p.R884W|AP3B2_uc010uoj.1_Missense_Mutation_p.R833W|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.R501W	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	865					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGCTACCCGGTGCAGCAGC	0.607		NA											5	24					0	0	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032166	10032166	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:10032166C>T	uc002czo.3	-	3	1205	c.657G>A	c.(655-657)CTG>CTA	p.L219L	GRIN2A_uc010uym.1_Silent_p.L219L|GRIN2A_uc010uyn.1_Silent_p.L62L|GRIN2A_uc002czr.3_Silent_p.L219L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	219	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCTTCTTCAGCTGGACTT	0.507		NA											8	49					0	0	0	0
PDILT	204474	broad.mit.edu	37	16	20410538	20410538	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:20410538A>G	uc002dhc.1	-	2	308	c.85T>C	c.(85-87)TCC>CCC	p.S29P		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	29					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						TGGATGCTGGAAACACCGGCG	0.602		NA											25	109					0	0	0	0
C16orf78	123970	broad.mit.edu	37	16	49430551	49430551	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:49430551C>T	uc002efr.2	+	4	655	c.612C>T	c.(610-612)ACC>ACT	p.T204T		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	204										central_nervous_system(1)	1						AGATGGAAACCATGAGGATGT	0.542		NA											5	28					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)			9	25					0	0	0	0
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7673916C>T	uc002giu.1	+	25	4154	c.4140C>T	c.(4138-4140)CTC>CTT	p.L1380L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542		NA											13	53					0	0	0	0
FAM134C	162427	broad.mit.edu	37	17	40735595	40735595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:40735595C>T	uc002ial.2	-	7	834	c.731G>A	c.(730-732)CGC>CAC	p.R244H	FAM134C_uc010wgq.1_Missense_Mutation_p.R44H|FAM134C_uc002iam.1_Missense_Mutation_p.R44H|FAM134C_uc010cyk.1_Missense_Mutation_p.R147H	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	244						integral to membrane		p.R244H(1)		upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498		NA											10	27					0	0	0	0
CBX4	8535	broad.mit.edu	37	17	77807811	77807811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:77807811C>T	uc002jxe.2	-	5	1793	c.1630G>A	c.(1630-1632)GAC>AAC	p.D544N		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	544	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGGTGACGTCGGTGATAATT	0.627		NA											22	65					0	0	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260048	44260048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr18:44260048C>T	uc002lcj.1	-	7	1656	c.1088G>A	c.(1087-1089)CGA>CAA	p.R363Q	ST8SIA5_uc002lci.1_Missense_Mutation_p.R210Q|ST8SIA5_uc010xcy.1_Missense_Mutation_p.R399Q|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R332Q	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	363	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.R363Q(1)		upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						GAGGATGCCTCGGCTGTGCAA	0.647		NA											17	55					0	0	0	0
OAZ1	4946	broad.mit.edu	37	19	2271954	2271954	+	Splice_Site	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:2271954G>A	uc002lvl.2	+	3		c.543_splice	c.e3+1		OAZ1_uc002lvm.2_Splice_Site|SPPL2B_uc010dsw.1_Intron			P54368	OAZ1_HUMAN	Homo sapiens cDNA, FLJ97169.						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity				0		Hepatocellular(1079;0.137)		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)	L-Ornithine(DB00129)	GCAAGGACAGGTGAGGGGCAA	0.667		NA											5	12					0	0	0	0
TMEM146	257062	broad.mit.edu	37	19	5772836	5772836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:5772836G>T	uc002mda.2	+	20	1862	c.1801G>T	c.(1801-1803)GAG>TAG	p.E601*		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	601	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CATCGACGCCGAGTATGTGTT	0.607		NA											22	69					2.98e-07	3.42e-07	1	0
MUC16	94025	broad.mit.edu	37	19	9000504	9000504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:9000504C>T	uc002mkp.2	-	54	40684	c.40480G>A	c.(40480-40482)GAG>AAG	p.E13494K	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E311K|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13496	SEA 10.|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						TGCATGTTCTCCTCATACCGC	0.478		NA											11	48					0	0	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769113	15769113	+	Silent	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:15769113T>C	uc002nbj.2	+	10	1205	c.1155T>C	c.(1153-1155)ATT>ATC	p.I385I	CYP4F3_uc010xok.1_Silent_p.I385I|CYP4F3_uc010xol.1_Silent_p.I385I|CYP4F3_uc010xom.1_Silent_p.I236I|CYP4F3_uc002nbk.2_Silent_p.I385I|CYP4F3_uc010xon.1_Silent_p.I95I	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	385					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CCATGTGCATTAAGGAGAGCC	0.597		NA											4	102					0	0	0	0
ZNF529	57711	broad.mit.edu	37	19	37039185	37039185	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:37039185C>T	uc002oeh.3	-	5	477	c.275G>A	c.(274-276)GGA>GAA	p.G92E	ZNF529_uc010xth.1_Missense_Mutation_p.G92E|ZNF529_uc010xti.1_Missense_Mutation_p.G74E|ZNF529_uc002oeg.3_5'UTR	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AATATCTTTTCCTACAGATAA	0.343		NA											4	15					0	0	0	0
CCDC8	83987	broad.mit.edu	37	19	46914919	46914919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:46914919G>C	uc002pep.2	-	1	2001	c.1149C>G	c.(1147-1149)CAC>CAG	p.H383Q		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	383						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCTTCCCTGTGGTTATCTG	0.582		NA											42	136					0	0	0	0
ZNF614	80110	broad.mit.edu	37	19	52519599	52519599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:52519599G>A	uc002pyj.2	-	5	1654	c.1252C>T	c.(1252-1254)CAG>TAG	p.Q418*	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Nonsense_Mutation_p.Q121*	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	418	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q418*(1)		ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAGTTCGCTGATGTATAACG	0.423		NA											38	144					0	0	0	0
NTSR2	23620	broad.mit.edu	37	2	11802096	11802096	+	Missense_Mutation	SNP	G	G	A	rs145680805		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:11802096G>A	uc002rbq.3	-	2	969	c.895C>T	c.(895-897)CTC>TTC	p.L299F		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	299	Helical; Name=6; (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACTTAACTGAGAACCTGGACG	0.383		NA											20	89					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202131241	202131241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:202131241G>A	uc002uxr.1	+	3	241	c.32G>A	c.(31-33)GGG>GAG	p.G11E	CASP8_uc010ftc.1_Missense_Mutation_p.G11E|CASP8_uc002uxo.1_Missense_Mutation_p.G11E|CASP8_uc002uxp.1_Missense_Mutation_p.G11E|CASP8_uc002uxq.1_Missense_Mutation_p.G11E|CASP8_uc002uxs.1_Missense_Mutation_p.G11E|CASP8_uc002uxt.1_Missense_Mutation_p.G70E|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G11E|CASP8_uc002uxw.1_Missense_Mutation_p.G11E|CASP8_uc002uxy.1_Missense_Mutation_p.G11E|CASP8_uc002uxx.1_Missense_Mutation_p.G11E|CASP8_uc010ftf.2_Missense_Mutation_p.G11E	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	11	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	p.G11R(1)		upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TATGATATTGGGGAACAACTG	0.398		NA								HNSCC(4;0.00038)			15	51					0	0	0	0
PTPRA	5786	broad.mit.edu	37	20	2969023	2969023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:2969023C>T	uc010zqd.1	+	8	991	c.674C>T	c.(673-675)ACC>ATC	p.T225I	PTPRA_uc002whj.2_Missense_Mutation_p.T214I|PTPRA_uc010zqc.1_Missense_Mutation_p.T99I|PTPRA_uc002whk.2_Missense_Mutation_p.T205I|PTPRA_uc002whl.2_Missense_Mutation_p.T205I|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.T205I|PTPRA_uc002who.2_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	214	Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.T214I(1)		upper_aerodigestive_tract(1)	1						TCCCCAAGCACCAACAGGAAA	0.547		NA											15	56					0	0	0	0
DIDO1	11083	broad.mit.edu	37	20	61511734	61511734	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:61511734G>A	uc002ydr.1	-	16	5838	c.5574C>T	c.(5572-5574)GCC>GCT	p.A1858A	DIDO1_uc002yds.1_Silent_p.A1858A	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1858	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CGTTATACGGGGCGTCCTGGA	0.622		NA											20	79					0	0	0	0
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:19960526G>A	uc002zqz.2	-	15	2743	c.2472C>T	c.(2470-2472)CAC>CAT	p.H824H	ARVCF_uc002zqy.2_Silent_p.H340H	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	824	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672		NA											27	65					0	0	0	0
SLC5A4	6527	broad.mit.edu	37	22	32614659	32614659	+	Missense_Mutation	SNP	C	C	T	rs150790454		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:32614659C>T	uc003ami.2	-	15	1824	c.1822G>A	c.(1822-1824)GGT>AGT	p.G608S		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	608	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TTCTGCAAACCGCAGAACAAG	0.468		NA											9	59					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121554	38121554	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:38121554C>T	uc003atr.2	+	7	3262	c.2991C>T	c.(2989-2991)CCC>CCT	p.P997P	TRIOBP_uc003atu.2_Silent_p.P825P|TRIOBP_uc003atq.1_Silent_p.P997P|TRIOBP_uc003ats.1_Silent_p.P825P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	997					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CTGTGTACCCCGCTGCCTATG	0.652		NA											25	124					0	0	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753277	41753277	+	Silent	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:41753277G>C	uc003azw.2	+	23	2994	c.2778G>C	c.(2776-2778)CTG>CTC	p.L926L	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	942	Potential.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GCGAGGTGCTGAAGCAGAAGT	0.617		NA											13	88					0	0	0	0
LMCD1	29995	broad.mit.edu	37	3	8609125	8609125	+	Splice_Site	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609125G>A	uc003bqq.2	+	6	1054	c.940_splice	c.e6-1	p.I314_splice	LMCD1_uc011atd.1_Splice_Site_p.I241_splice|LMCD1_uc011ate.1_Splice_Site_p.I202_splice	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CCCCTCCCCAGATAATATTCG	0.532		NA											44	230					0	0	0	0
LMCD1	29995	broad.mit.edu	37	3	8609159	8609159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609159G>A	uc003bqq.2	+	6	1087	c.973G>A	c.(973-975)GAT>AAT	p.D325N	LMCD1_uc011atd.1_Missense_Mutation_p.D252N|LMCD1_uc011ate.1_Missense_Mutation_p.D213N	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	325	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCGTGTGGAAGATCTGGCCTG	0.552		NA											51	248					0	0	0	0
CCDC13	152206	broad.mit.edu	37	3	42799629	42799629	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:42799629C>A	uc003cly.3	-	2	293	c.209G>T	c.(208-210)AGC>ATC	p.S70I	CCDC13_uc003clz.2_Missense_Mutation_p.S70I|CCDC13_uc011azq.1_Missense_Mutation_p.S70I	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	70	Potential.									ovary(1)	1						CTTCTCAAAGCTATTTTTCGA	0.393		NA											8	41					5.49e-09	6.42e-09	1	0
CCDC14	64770	broad.mit.edu	37	3	123665761	123665761	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:123665761T>C	uc011bjx.1	-	8	1325	c.1234A>G	c.(1234-1236)ACA>GCA	p.T412A	CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.T212A|CCDC14_uc010hrt.2_Missense_Mutation_p.T371A|CCDC14_uc003egy.3_Missense_Mutation_p.T212A|CCDC14_uc003egz.2_Missense_Mutation_p.T212A	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	412	Potential.					centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTGTTTTTGTATCTCGCACA	0.383		NA											31	104					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:178916944A>G	uc003fjk.2	+	2	488	c.331A>G	c.(331-333)AAG>GAG	p.K111E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	64					0	0	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039612	184039612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:184039612G>A	uc003fnp.2	+	10	1438	c.1240G>A	c.(1240-1242)GAC>AAC	p.D414N	EIF4G1_uc003fno.1_Missense_Mutation_p.D355N|EIF4G1_uc010hxw.1_Missense_Mutation_p.D250N|EIF4G1_uc003fnt.2_Missense_Mutation_p.D125N|EIF4G1_uc003fnq.2_Missense_Mutation_p.D327N|EIF4G1_uc003fnr.2_Missense_Mutation_p.D250N|EIF4G1_uc010hxx.2_Missense_Mutation_p.D421N|EIF4G1_uc003fns.2_Missense_Mutation_p.D374N|EIF4G1_uc010hxy.2_Missense_Mutation_p.D421N|EIF4G1_uc003fnv.3_Missense_Mutation_p.D414N|EIF4G1_uc003fnu.3_Missense_Mutation_p.D414N|EIF4G1_uc003fnw.2_Missense_Mutation_p.D421N|EIF4G1_uc003fnx.2_Missense_Mutation_p.D218N|EIF4G1_uc003fny.3_Missense_Mutation_p.D218N	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	414					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.D414N(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGCTGTGGACTTAAGCCC	0.632		NA											64	255					0	0	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107523	6107523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:6107523G>A	uc003giu.3	-	3	577	c.301C>T	c.(301-303)CGC>TGC	p.R101C	JAKMIP1_uc010idb.1_Missense_Mutation_p.R101C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R101C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R101C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R101C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	101	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TTGGCGGTGCGCGCCGCCTCC	0.677		NA											4	17					0	0	0	0
AFF1	4299	broad.mit.edu	37	4	88035995	88035995	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88035995G>A	uc003hqj.3	+	11	2396	c.1989G>A	c.(1987-1989)GTG>GTA	p.V663V	AFF1_uc011ccz.1_Silent_p.V670V|AFF1_uc003hqk.3_Silent_p.V663V|AFF1_uc011cda.1_Silent_p.V301V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	663						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCAGCAGTGCCCCCCTCCA	0.607		NA											8	34					0	0	0	0
HSD17B11	51170	broad.mit.edu	37	4	88312141	88312141	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88312141G>T	uc003hqp.2	-	1	315	c.82C>A	c.(82-84)CCT>ACT	p.P28T		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	estradiol 17-beta-dehydrogenase 11	28					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			ovary(2)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTCTTAGGAATAAAAAGC	0.468		NA											14	39					4.38e-07	4.91e-07	1	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:153247289G>C	uc003ims.2	-	10	1662	c.1513C>G	c.(1513-1515)CGC>GGC	p.R505G	FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	505	WD 4.		R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468		NA	Mis|N|D|F		colorectal|endometrial|T-ALL								27	87					0	0	0	0
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137593489G>A	uc003lcn.2	-	4	764	c.624C>T	c.(622-624)GCC>GCT	p.A208A	GFRA3_uc003lco.2_Silent_p.A177A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726		NA											11	33					0	0	0	0
KDM3B	51780	broad.mit.edu	37	5	137762666	137762666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137762666C>T	uc003lcy.1	+	18	4614	c.4414C>T	c.(4414-4416)CGA>TGA	p.R1472*	KDM3B_uc010jew.1_Nonsense_Mutation_p.R1128*|KDM3B_uc011cys.1_Nonsense_Mutation_p.R504*	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1472					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TCTTCCAGAACGACTACGGTC	0.458		NA											8	28					0	0	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220964	140220964	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140220964C>T	uc003lhs.2	+	1	58	c.58C>T	c.(58-60)CTC>TTC	p.L20F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.L20F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	20					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	p.L20F(1)		upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGCTTCTGCTCCTCGCAGC	0.547		NA											13	85					0	0	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553798	140553798	+	Missense_Mutation	SNP	G	G	A	rs137953621		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140553798G>A	uc003lit.2	+	1	1556	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	461	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTGTCCGTGAGAACAAC	0.607		NA											18	85					0	0	0	0
GCM2	9247	broad.mit.edu	37	6	10877388	10877388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:10877388G>A	uc003mzn.3	-	2	400	c.328C>T	c.(328-330)CGG>TGG	p.R110W	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	110	GCM.		R -> W (in FIH; abolishes DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTTTCAGCCGTGCCTTGTCG	0.507		NA											15	81					0	0	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158692	26158692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:26158692G>C	uc003ngr.2	+	1	344	c.295G>C	c.(295-297)GTG>CTG	p.V99L	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V99L	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	99					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						CCAGACGGCCGTGCGCCTGCT	0.617		NA											20	94					0	0	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100520	27100520	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:27100520G>T	uc003niv.2	-	1	56	c.10C>A	c.(10-12)CCA>ACA	p.P4T	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	4					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						GACTTCGCTGGCTCTGGCATA	0.527		NA											10	63					2.18e-05	2.39e-05	1	0
PKHD1	5314	broad.mit.edu	37	6	51907774	51907774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:51907774G>A	uc003pah.1	-	27	3256	c.2980C>T	c.(2980-2982)CGG>TGG	p.R994W	PKHD1_uc003pai.2_Missense_Mutation_p.R994W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	994	IPT/TIG 4.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R994W(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					ATCAAGATCCGATGCATTCCA	0.453		NA											17	63					0	0	0	0
COX7A2	1347	broad.mit.edu	37	6	75950913	75950913	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:75950913C>T	uc003phv.1	-	2	162	c.87G>A	c.(85-87)CCG>CCA	p.P29P		NM_001865	NP_001856	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	29						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						TTTGCTTCTCCGGAACTTTAT	0.343		NA											30	143					0	0	0	0
EPHA7	2045	broad.mit.edu	37	6	93967961	93967961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:93967961C>A	uc003poe.2	-	11	2207	c.1966G>T	c.(1966-1968)GGG>TGG	p.G656W	EPHA7_uc003pof.2_Missense_Mutation_p.G651W|EPHA7_uc011eac.1_Missense_Mutation_p.G652W	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	656	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G656W(1)		lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTCTTTTCCCTGGAAGTTTC	0.383		NA											20	79					3.84e-06	4.24e-06	1	0
UTRN	7402	broad.mit.edu	37	6	145021235	145021235	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:145021235G>A	uc003qkt.2	+	52	7757	c.7665G>A	c.(7663-7665)GAG>GAA	p.E2555E		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2555	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCATTTGGAGGCCAGCGCTG	0.353		NA											9	47					0	0	0	0
C7orf63	79846	broad.mit.edu	37	7	89915651	89915651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:89915651G>T	uc010lep.2	+	14	1845	c.1594G>T	c.(1594-1596)GAA>TAA	p.E532*	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Nonsense_Mutation_p.E207*|C7orf63_uc011khj.1_Nonsense_Mutation_p.E514*|C7orf63_uc011khk.1_Nonsense_Mutation_p.E94*	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	532							binding			ovary(1)	1						CATTGTTTTGGAAATCCAGTC	0.348		NA											13	63					4.38e-07	4.91e-07	1	0
SRPK2	6733	broad.mit.edu	37	7	104801043	104801043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:104801043C>A	uc003vct.2	-	6	686	c.499G>T	c.(499-501)GAA>TAA	p.E167*	SRPK2_uc003vcu.2_Nonsense_Mutation_p.E167*|SRPK2_uc003vcv.2_Nonsense_Mutation_p.E178*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.E167*	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	167	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E167*(1)		central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CCAAGTACTTCGAAGACCATG	0.473		NA											9	26					1.77e-08	2.05e-08	1	0
ZNF467	168544	broad.mit.edu	37	7	149461821	149461821	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:149461821C>T	uc003wgd.2	-	5	1911	c.1770G>A	c.(1768-1770)CCG>CCA	p.P590P	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGCGGGGGCGGCGCCACCT	0.701		NA											4	14					0	0	0	0
GPR20	2843	broad.mit.edu	37	8	142367698	142367698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr8:142367698C>T	uc003ywf.2	-	2	415	c.326G>A	c.(325-327)CGC>CAC	p.R109H		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	109	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity	p.R109H(1)		upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACAGCGAAGCGCGTGGGCAG	0.617		NA											16	48					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:21971000C>A	uc003zpk.2	-	2	570	c.358G>T	c.(358-360)GAG>TAG	p.E120*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	120	ANK 4.		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	21					0.00829132	0.00881656	1	0
SLC28A3	64078	broad.mit.edu	37	9	86905135	86905135	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:86905135G>A	uc010mpz.2	-	11	1208	c.1083C>T	c.(1081-1083)CAC>CAT	p.H361H	SLC28A3_uc011lsy.1_Silent_p.H292H|SLC28A3_uc004anu.1_Silent_p.H361H	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	361	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						TCATGATGGCGTGGAGTTCAG	0.463		NA											12	50					0	0	0	0
COL27A1	85301	broad.mit.edu	37	9	116930231	116930231	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:116930231C>T	uc011lxl.1	+	3	396	c.396C>T	c.(394-396)CCC>CCT	p.P132P	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_5'UTR	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	132	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						AGTTCCTCCCCGGCAAGACGG	0.682		NA											26	69					0	0	0	0
TTF1	7270	broad.mit.edu	37	9	135277682	135277682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:135277682G>A	uc004cbl.2	-	2	579	c.527C>T	c.(526-528)GCA>GTA	p.A176V	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	176	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.A176V(1)		ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCCCAGGATGCAGCTTTCCT	0.493		NA											16	31					0	0	0	0
RXRA	6256	broad.mit.edu	37	9	137328348	137328348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:137328348G>A	uc004cfb.2	+	10	1439	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	RXRA_uc004cfc.1_Missense_Mutation_p.R329H	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	426	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.R426H(1)		upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCGGCTCTGCGCTCCATCGGG	0.612		NA											27	71					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:139413214C>T	uc004chz.2	-	6	928	c.928G>A	c.(928-930)GGG>AGG	p.G310R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	310	Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G310R(2)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGGTCCCGCCGTTCTGG	0.627		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			6	17					0	0	0	0
MAGT1	84061	broad.mit.edu	37	X	77126359	77126359	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:77126359G>C	uc004fof.2	-	3	494	c.432C>G	c.(430-432)AAC>AAG	p.N144K	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.N144K	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	112					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.N112K(1)		upper_aerodigestive_tract(1)	1						AAAATATCCTGTTGGTGAATG	0.363		NA											15	26					0	0	0	0
WDR44	54521	broad.mit.edu	37	X	117575441	117575441	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:117575441C>G	uc004eqn.2	+	15	2510	c.2085C>G	c.(2083-2085)ATC>ATG	p.I695M	WDR44_uc004eqo.2_Missense_Mutation_p.I695M|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Missense_Mutation_p.I405M	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	695	WD 4.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.I695M(2)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						CAAAATTGATCACAGCTGCAA	0.378		NA											26	31					0	0	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961723	1961737	+	In_Frame_Del	DEL	GCGGGGACGGCTGCC	GCGGGGACGGCTGCC	-	rs79686696	by1000genomes	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:1961723_1961737delGCGGGGACGGCTGCC	uc002cnf.2	-	2	790_804	c.790_804delGGCAGCCGTCCCCGC	c.(790-804)GGCAGCCGTCCCCGCdel	p.GSRPR264del		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	264_268											0						TGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCC	0.679		NA											9	23	---	---	---	---	NA	NA	NA	NA
DYRK1B	9149	broad.mit.edu	37	19	40321135	40321137	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:40321135_40321137delCTC	uc002omj.2	-	4	530_532	c.250_252delGAG	c.(250-252)GAGdel	p.E84del	DYRK1B_uc002omi.2_In_Frame_Del_p.E84del|DYRK1B_uc002omk.2_In_Frame_Del_p.E84del|DYRK1B_uc002oml.2_In_Frame_Del_p.E84del	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	84	Bipartite nuclear localization signal (Potential).				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGACCTTCTTCTCCTTCTTGTTG	0.581		NA											22	82	---	---	---	---	NA	NA	NA	NA
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:33923478_33923479insG	uc003ztq.1	-	25	2910	c.2797_splice	c.e25-1	p.V933_splice	UBAP2_uc011loc.1_Splice_Site_p.V842_splice|UBAP2_uc011lod.1_Splice_Site_p.V666_splice|UBAP2_uc011loe.1_Splice_Site_p.V688_splice|UBAP2_uc011lof.1_Intron|UBAP2_uc003ztn.1_Splice_Site_p.V172_splice|UBAP2_uc003zto.1_Splice_Site_p.V172_splice|UBAP2_uc003ztp.1_Splice_Site_p.V172_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594		NA											53	280	---	---	---	---	NA	NA	NA	NA
VPS13A	23230	broad.mit.edu	37	9	79930243	79930244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:79930243_79930244insT	uc004akr.2	+	38	4747_4748	c.4487_4488insT	c.(4486-4488)TGTfs	p.C1496fs	VPS13A_uc004akp.3_Frame_Shift_Ins_p.C1496fs|VPS13A_uc004akq.3_Frame_Shift_Ins_p.C1496fs|VPS13A_uc004aks.2_Frame_Shift_Ins_p.C1457fs|VPS13A_uc004akt.2_5'Flank|VPS13A_uc010mpo.1_Frame_Shift_Ins_p.C92fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1496					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGAGATGGTTGTGTGACTGATG	0.396		NA											40	72	---	---	---	---	NA	NA	NA	NA