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
GPN2	54707	broad.mit.edu	37	1	27216255	27216255	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:27216255G>A	uc001bnd.1	-	1	615	c.333C>T	c.(331-333)TGC>TGT	p.C111C		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	111							GTP binding				0						CCTGGCCTGGGCAGTCGAAGA	0.657		NA											17	88					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145365392	145365392	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:145365392C>G	uc001end.3	+	82	10277	c.10242C>G	c.(10240-10242)TGC>TGG	p.C3414W	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3339											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGACTCATGCCAGCCCTACA	0.478		NA											13	89					0	0	0	0
CD247	919	broad.mit.edu	37	1	167409931	167409931	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:167409931G>C	uc001gei.3	-	2	277	c.132C>G	c.(130-132)GTC>GTG	p.V44V	CD247_uc001gej.3_Silent_p.V44V|CD247_uc001gek.2_Silent_p.V44V	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	44	Helical; (Potential).				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			CAGTGAGAATGACACCATAGA	0.557		NA											6	40					0	0	0	0
OR14C36	127066	broad.mit.edu	37	1	248513012	248513012	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr1:248513012G>A	uc010pzl.1	+	1	936	c.936G>A	c.(934-936)GTG>GTA	p.V312V		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGAAAATGTGTAAGAAACCC	0.333		NA											17	73					0	0	0	0
ZMYND11	10771	broad.mit.edu	37	10	294467	294467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:294467G>C	uc010pzt.1	+	13	1847	c.1419G>C	c.(1417-1419)AAG>AAC	p.K473N	ZMYND11_uc001ifk.2_Missense_Mutation_p.K472N|ZMYND11_uc010pzu.1_Missense_Mutation_p.K473N|ZMYND11_uc010pzv.1_Missense_Mutation_p.K418N|ZMYND11_uc010pzw.1_Missense_Mutation_p.K388N|ZMYND11_uc001ifm.2_Missense_Mutation_p.K419N|ZMYND11_uc010pzx.1_Missense_Mutation_p.K473N|ZMYND11_uc001ifn.2_Missense_Mutation_p.K419N|ZMYND11_uc009xhg.2_Missense_Mutation_p.K456N|ZMYND11_uc009xhh.2_Missense_Mutation_p.K347N|ZMYND11_uc010pzy.1_Missense_Mutation_p.K325N	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	433	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATACACCAAGATCTTCAATG	0.512		NA											16	67					0	0	0	0
BEND7	222389	broad.mit.edu	37	10	13489310	13489310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:13489310G>A	uc001imm.2	-	8	1334	c.1037C>T	c.(1036-1038)GCG>GTG	p.A346V	BEND7_uc001iml.2_RNA|BEND7_uc001imn.2_Missense_Mutation_p.A106V|BEND7_uc001imo.3_Missense_Mutation_p.A358V	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	397							protein binding			ovary(1)|breast(1)	2						ATCACTGTCCGCGATCTCTGC	0.388		NA											13	63					0	0	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820226	50820226	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:50820226C>T	uc001jhw.2	+	1	1880	c.1440C>T	c.(1438-1440)TCC>TCT	p.S480S	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	480	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GCTCCCGTTCCGAGCGCGATG	0.657		NA											13	53					0	0	0	0
TET1	80312	broad.mit.edu	37	10	70451332	70451332	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr10:70451332C>A	uc001jok.3	+	12	6677	c.6172C>A	c.(6172-6174)CAA>AAA	p.Q2058K		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2058					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AAATAAGCCCCAACATGGTTT	0.453		NA											14	56					7.93e-07	1.01e-06	1	0
SIRT3	23410	broad.mit.edu	37	11	224206	224206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:224206G>A	uc001lok.3	-	5	875	c.841C>T	c.(841-843)CCG>TCG	p.P281S	SIRT3_uc001loj.3_Missense_Mutation_p.P139S|SIRT3_uc010qvm.1_Missense_Mutation_p.P217S|SIRT3_uc010qvn.1_Missense_Mutation_p.P200S|SIRT3_uc010qvo.1_Missense_Mutation_p.P281S|SIRT3_uc010qvp.1_Intron|SIRT3_uc010qvq.1_Missense_Mutation_p.P139S|SIRT3_uc009ybt.1_RNA	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN	sirtuin 3 isoform a	281	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			urinary_tract(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGACCGGGCAGCGGGGA	0.557		NA											9	43					0	0	0	0
NAV2	89797	broad.mit.edu	37	11	20119140	20119140	+	Silent	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr11:20119140C>G	uc001mpr.3	+	31	6400	c.6039C>G	c.(6037-6039)GTC>GTG	p.V2013V	NAV2_uc001mpp.2_Silent_p.V1946V|NAV2_uc009yhx.2_Silent_p.V1074V|NAV2_uc009yhz.2_Silent_p.V655V|NAV2_uc001mpu.2_Silent_p.V448V	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2069						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TCATTCATGTCGACCCAGTGA	0.448		NA											11	65					0	0	0	0
LRP6	4040	broad.mit.edu	37	12	12303861	12303861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:12303861C>T	uc001rah.3	-	13	3045	c.2903G>A	c.(2902-2904)CGG>CAG	p.R968Q	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R968Q	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	968	Extracellular (Potential).|Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				GTCAATGGCCCGGACATTCCG	0.493		NA											46	104					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40716168	40716168	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:40716168G>C	uc001rmg.3	+	37	5486	c.5365G>C	c.(5365-5367)GAA>CAA	p.E1789Q	LRRK2_uc009zjw.2_Missense_Mutation_p.E627Q|LRRK2_uc001rmi.2_Missense_Mutation_p.E622Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1789					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCTCTCATGGAAGAATGGTT	0.403		NA											30	171					0	0	0	0
KRT83	3889	broad.mit.edu	37	12	52714887	52714887	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:52714887G>T	uc001saf.2	-	1	296	c.233C>A	c.(232-234)CCC>CAC	p.P78H		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	78	Head.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGGGGCTGGGTCCGCACAC	0.701		NA											48	116					4.64e-19	6.47e-19	1	0
HPD	3242	broad.mit.edu	37	12	122294232	122294232	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr12:122294232G>T	uc001ubj.2	-	6	362	c.322C>A	c.(322-324)CAG>AAG	p.Q108K	HPD_uc001ubk.2_Missense_Mutation_p.Q69K	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	108					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTTCTTACCTGCACGATGTAG	0.582		NA											21	54					3.6e-14	4.96e-14	1	0
CGNL1	84952	broad.mit.edu	37	15	57732649	57732649	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:57732649C>T	uc002aeg.2	+	3	1753	c.1677C>T	c.(1675-1677)CTC>CTT	p.L559L	CGNL1_uc010bfw.2_Silent_p.L559L	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	559						myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAGATTCTCTACAATTACC	0.443		NA											5	4					0	0	0	0
HCN4	10021	broad.mit.edu	37	15	73635796	73635796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr15:73635796G>A	uc002avp.2	-	2	2133	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	380	Helical; Voltage-sensor; Name=Segment S4; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GAGGATCTTCGTGAAGCGGAC	0.552		NA											7	41					0	0	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr16:77465453G>A	uc002ffc.3	-	3	653	c.234C>T	c.(232-234)CAC>CAT	p.H78H	ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCAAAATGTCGTGTGAAATAT	0.488		NA											52	274					0	0	0	0
AIPL1	23746	broad.mit.edu	37	17	6330371	6330371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:6330371C>T	uc002gcp.2	-	4	567	c.472G>A	c.(472-474)GCC>ACC	p.A158T	AIPL1_uc002gcq.2_Missense_Mutation_p.A98T|AIPL1_uc002gcr.2_Missense_Mutation_p.A95T|AIPL1_uc010clk.2_Missense_Mutation_p.A136T|AIPL1_uc010cll.2_Missense_Mutation_p.A158T|AIPL1_uc002gcs.2_Missense_Mutation_p.A158T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	158					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		TCACTCGGGGCATCAACCTGG	0.602		NA											21	82					0	0	0	0
POLR2A	5430	broad.mit.edu	37	17	7414779	7414779	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7414779G>C	uc002ghf.3	+	24	4207	c.3973G>C	c.(3973-3975)GAT>CAT	p.D1325H		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1325					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.I1322_W1334del(1)		pancreas(1)	1		Prostate(122;0.173)				CATCACGGAGGATGGGGAATT	0.582		NA											4	34					0	0	0	0
LHX1	3975	broad.mit.edu	37	17	35299527	35299527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:35299527C>T	uc002hnh.1	+	4	1702	c.706C>T	c.(706-708)CGG>TGG	p.R236W		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	236	Homeobox.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				CTCCAAGGAGCGGAGGATGAA	0.741		NA											4	28					0	0	0	0
KIAA0802	23255	broad.mit.edu	37	18	8783718	8783718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:8783718G>C	uc002knr.2	+	6	750	c.608G>C	c.(607-609)CGG>CCG	p.R203P	KIAA0802_uc002knq.2_Missense_Mutation_p.R203P|KIAA0802_uc010dkw.1_Missense_Mutation_p.R41P	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	554	Potential.										0						CCCAGCACCCGGGAGGCCGAG	0.642		NA											13	19					0	0	0	0
NOL4	8715	broad.mit.edu	37	18	31673461	31673461	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:31673461T>C	uc010dmi.2	-	5	969	c.740A>G	c.(739-741)CAA>CGA	p.Q247R	NOL4_uc002kxr.3_Missense_Mutation_p.Q83R|NOL4_uc010xbt.1_Missense_Mutation_p.Q173R|NOL4_uc010dmh.2_Missense_Mutation_p.Q173R|NOL4_uc010xbu.1_Missense_Mutation_p.Q247R|NOL4_uc002kxt.3_Missense_Mutation_p.Q247R|NOL4_uc010xbw.1_Missense_Mutation_p.Q133R	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	247						nucleolus	RNA binding			ovary(3)	3						CTGGGGACTTTGCATTCTTTC	0.383		NA											12	79					0	0	0	0
SERPINB8	5271	broad.mit.edu	37	18	61649018	61649018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr18:61649018G>C	uc002ljv.2	+	4	539	c.370G>C	c.(370-372)GAC>CAC	p.D124H	SERPINB8_uc002ljs.1_Missense_Mutation_p.D124H|SERPINB8_uc002ljt.2_Missense_Mutation_p.D124H|SERPINB8_uc002lju.2_Missense_Mutation_p.D124H|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	124					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				CTTTGCTGAAGACACTGAAGA	0.413		NA											42	71					0	0	0	0
RFX2	5990	broad.mit.edu	37	19	6040054	6040054	+	Silent	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:6040054G>T	uc002meb.2	-	5	728	c.459C>A	c.(457-459)ATC>ATA	p.I153I	RFX2_uc002mec.2_Silent_p.I153I|RFX2_uc010xiy.1_Silent_p.I108I	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						TCCCCCCGTGGATGAGATAGG	0.677		NA											3	21					0.004672	0.0055009	1	0
ZNF560	147741	broad.mit.edu	37	19	9583928	9583928	+	Missense_Mutation	SNP	C	C	A	rs138007443		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9583928C>A	uc002mlp.1	-	5	375	c.165G>T	c.(163-165)CAG>CAT	p.Q55H	ZNF560_uc010dwr.1_5'UTR	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	55	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						GTTTAAAGAGCTGAAATCCTT	0.299		NA											29	149					4.23e-11	5.72e-11	1	0
OR10H5	284433	broad.mit.edu	37	19	15905620	15905620	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:15905620C>A	uc010xos.1	+	1	762	c.762C>A	c.(760-762)GGC>GGA	p.G254G		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGCACTATGGCTTTGCCTCCG	0.572		NA											8	46					0.00829132	0.0096585	1	0
CPAMD8	27151	broad.mit.edu	37	19	17056415	17056415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:17056415C>T	uc002nfb.2	-	22	2910	c.2878G>A	c.(2878-2880)GCC>ACC	p.A960T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	913						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CTCCTGTCGGCGTGATTCTCC	0.567		NA											19	92					0	0	0	0
SBSN	374897	broad.mit.edu	37	19	36017775	36017775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:36017775C>T	uc002oae.1	-	2	450	c.380G>A	c.(379-381)GGG>GAG	p.G127E	SBSN_uc002oad.1_Missense_Mutation_p.G470E	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	suprabasin isoform 2 precursor	127	Ala/Gly/His-rich.					extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCGGCCTGTTC	0.597		NA											7	20					0	0	0	0
PRODH2	58510	broad.mit.edu	37	19	36303355	36303355	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:36303355A>C	uc002obx.1	-	3	524	c.506T>G	c.(505-507)GTG>GGG	p.V169G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	169					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCCCTTCACCTCCTCTGC	0.647		NA											8	48					0	0	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655170	38655170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:38655170G>A	uc002ohk.2	+	15	4341	c.3832G>A	c.(3832-3834)GCA>ACA	p.A1278T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1278					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCAGCAACGCATCCAGCAG	0.617		NA											26	56					0	0	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640003	49640003	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:49640003C>T	uc002pmr.2	+	15	2020	c.1688C>T	c.(1687-1689)GCG>GTG	p.A563V	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.A487V|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A431V	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	563						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCTGCCCCTGCGGGCTCCATA	0.652		NA											6	8					0	0	0	0
OXER1	165140	broad.mit.edu	37	2	42991037	42991037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:42991037G>C	uc002rss.2	-	1	365	c.283C>G	c.(283-285)CTG>GTG	p.L95V		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	95	Extracellular (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						ATTGGTGCCAGGAAGGCAGAC	0.532		NA											8	52					0	0	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883756	74883756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:74883756G>A	uc002sna.1	+	2	352	c.241G>A	c.(241-243)GCC>ACC	p.A81T	SEMA4F_uc010ysb.1_Missense_Mutation_p.A81T|SEMA4F_uc010ffq.1_Missense_Mutation_p.A81T|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A81T	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	81	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TTATGTTGGCGCCCGGGACAC	0.577		NA											23	107					0	0	0	0
TSGA10	80705	broad.mit.edu	37	2	99695246	99695246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:99695246C>T	uc002szg.3	-	10	1386	c.758G>A	c.(757-759)CGA>CAA	p.R253Q	TSGA10_uc002szh.3_Missense_Mutation_p.R253Q|TSGA10_uc002szi.3_Missense_Mutation_p.R253Q|TSGA10_uc010fin.1_Missense_Mutation_p.R253Q|TSGA10_uc010yvn.1_Missense_Mutation_p.R253Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	253					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						GATTTCTTCTCGCTGTGCAAT	0.328		NA											8	29					0	0	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:110015235C>T	uc010ywt.1	+	4	1135	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			ovary(1)	1						CACCAAGAAACGCCACTCCTT	0.597		NA											3	21					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	138208533	138208533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:138208533G>T	uc002tva.1	+	14	2985	c.2985G>T	c.(2983-2985)TGG>TGT	p.W995C	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCAAATGGCTAAAAGAAA	0.413		NA											7	33					2.01e-06	2.53e-06	1	0
TTN	7273	broad.mit.edu	37	2	179599567	179599567	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:179599567G>A	uc010zfg.1	-	48	11576	c.11352C>T	c.(11350-11352)GTC>GTT	p.V3784V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V445V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4711							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACATTCGGACTGTGTTAC	0.418		NA											9	74					0	0	0	0
HECW2	57520	broad.mit.edu	37	2	197184307	197184307	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:197184307C>A	uc002utm.1	-	9	1490	c.1307G>T	c.(1306-1308)TGC>TTC	p.C436F	HECW2_uc002utl.1_Missense_Mutation_p.C80F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	436					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CCTCTCAGAGCAGGTCGCTGT	0.498		NA											25	41					5.45e-15	7.55e-15	1	0
SLC16A14	151473	broad.mit.edu	37	2	230911039	230911039	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:230911039G>T	uc002vqd.1	-	4	1166	c.803C>A	c.(802-804)CCC>CAC	p.P268H	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.P268H|SLC16A14_uc002vqf.2_Missense_Mutation_p.P268H	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	268	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCCTGATCGGGGCACTCCTG	0.577		NA											27	129					1.26e-06	1.6e-06	1	0
BPIL1	80341	broad.mit.edu	37	20	31606143	31606143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:31606143C>A	uc002wyj.2	+	8	850	c.656C>A	c.(655-657)TCC>TAC	p.S219Y		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	219						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GACTACATTTCCCTGGAAGTC	0.567		NA											28	176					7.38e-10	9.62e-10	1	0
FAM83C	128876	broad.mit.edu	37	20	33876323	33876323	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:33876323C>T	uc010zux.1	-	3	865	c.747G>A	c.(745-747)GGG>GGA	p.G249G	FAM83C_uc002xcb.1_Silent_p.G73G	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	249										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGCCTGCCCCGTGAAGC	0.622		NA											19	463					0	0	0	0
SFI1	9814	broad.mit.edu	37	22	32003955	32003955	+	Silent	SNP	G	G	C			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr22:32003955G>C	uc003ale.2	+	22	2583	c.2190G>C	c.(2188-2190)GTG>GTC	p.V730V	SFI1_uc003alf.2_Silent_p.V699V|SFI1_uc003alg.2_Silent_p.V648V|SFI1_uc011alp.1_Silent_p.V636V|SFI1_uc011alq.1_Silent_p.V675V|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	730					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTGTGTCAGTGCAGATGTATT	0.592		NA											7	47					0	0	0	0
CHL1	10752	broad.mit.edu	37	3	447203	447203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:447203G>T	uc003bou.2	+	27	3707	c.3436G>T	c.(3436-3438)GGA>TGA	p.G1146*	CHL1_uc003bot.2_Nonsense_Mutation_p.G1162*|CHL1_uc011asi.1_Nonsense_Mutation_p.G1109*	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1146	Cytoplasmic (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCTCTCAAAGGAAGCCTTCG	0.398		NA											7	31					2.77e-08	3.57e-08	1	0
SCN10A	6336	broad.mit.edu	37	3	38739945	38739945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:38739945G>A	uc003ciq.2	-	27	4766	c.4766C>T	c.(4765-4767)GCG>GTG	p.A1589V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1589	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCCTTGGCCGCTCGGATCAG	0.522		NA											17	67					0	0	0	0
ROBO1	6091	broad.mit.edu	37	3	78711146	78711146	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:78711146C>G	uc003dqe.2	-	15	2293	c.2085G>C	c.(2083-2085)TGG>TGC	p.W695C	ROBO1_uc003dqb.2_Missense_Mutation_p.W656C|ROBO1_uc003dqc.2_Missense_Mutation_p.W659C|ROBO1_uc003dqd.2_Missense_Mutation_p.W659C|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.W267C|ROBO1_uc003dqf.1_Missense_Mutation_p.W374C	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	695	Extracellular (Potential).|Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACTCACTGTCCAGTGCACTT	0.453		NA											4	10					0	0	0	0
RHO	6010	broad.mit.edu	37	3	129247885	129247885	+	Silent	SNP	C	C	T	rs149615742	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:129247885C>T	uc003emt.2	+	1	404	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	103	Extracellular.				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602		NA											21	148					0	0	0	0
CFI	3426	broad.mit.edu	37	4	110667595	110667595	+	Silent	SNP	A	A	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:110667595A>G	uc003hzr.3	-	11	1420	c.1212T>C	c.(1210-1212)CTT>CTC	p.L404L	CFI_uc003hzq.2_Silent_p.L201L|CFI_uc011cft.1_Silent_p.L412L|CFI_uc003hzs.3_Silent_p.L397L	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	404	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTATACGTTTAAGGTCGGGGT	0.328		NA											6	39					0	0	0	0
CASP3	836	broad.mit.edu	37	4	185553070	185553070	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:185553070C>T	uc003iwh.2	-	6	595	c.332G>A	c.(331-333)AGG>AAG	p.R111K	CASP3_uc003iwg.2_Missense_Mutation_p.R111K|CASP3_uc003iwi.2_Missense_Mutation_p.R111K	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	111					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AAAACTGCTCCTTTTGCTGTG	0.328		NA											38	86					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187521088	187521088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr4:187521088G>A	uc003izf.2	-	22	12255	c.12067C>T	c.(12067-12069)CAG>TAG	p.Q4023*	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4023	Extracellular (Potential).|EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTCCATTCTGGCAAGGGTTG	0.537		NA								HNSCC(5;0.00058)			9	59					0	0	0	0
RASA1	5921	broad.mit.edu	37	5	86659245	86659245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:86659245C>T	uc003kiw.2	+	11	1652	c.1534C>T	c.(1534-1536)CGA>TGA	p.R512*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R335*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R345*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R346*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R334*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	512	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCGAAAAACGAGCTACCAA	0.328		NA											18	31					0	0	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768679	140768679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr5:140768679C>T	uc003lkc.1	+	1	1228	c.1228C>T	c.(1228-1230)CGC>TGC	p.R410C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R410C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	410	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTAGACCGCGAGCAGAA	0.438		NA											23	98					0	0	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839920	27839920	+	Silent	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:27839920C>T	uc003njy.2	-	1	180	c.174G>A	c.(172-174)TCG>TCA	p.S58S		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GCAGCTCGGTCGACTTCTGGT	0.652		NA											21	134					0	0	0	0
EHMT2	10919	broad.mit.edu	37	6	31847881	31847881	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:31847881G>A	uc003nxz.1	-	28	3623	c.3613C>T	c.(3613-3615)CTG>TTG	p.L1205L	EHMT2_uc003nxv.1_Silent_p.L244L|EHMT2_uc003nxw.1_Silent_p.L244L|EHMT2_uc003nxx.1_Silent_p.L403L|EHMT2_uc003nxy.1_Silent_p.L1003L|EHMT2_uc011don.1_Silent_p.L1228L|EHMT2_uc003nya.1_Silent_p.L1171L|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1205					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						ACAGGGGGCAGGGAGCCGAGC	0.657		NA											20	53					0	0	0	0
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:72968754G>A	uc003pga.2	+	18	3070	c.2993G>A	c.(2992-2994)CGA>CAA	p.R998Q	RIMS1_uc011dyb.1_Missense_Mutation_p.R623Q|RIMS1_uc003pgc.2_Missense_Mutation_p.R624Q|RIMS1_uc010kaq.2_Missense_Mutation_p.R471Q|RIMS1_uc011dyc.1_Missense_Mutation_p.R472Q|RIMS1_uc010kar.2_Missense_Mutation_p.R391Q|RIMS1_uc011dyd.1_Missense_Mutation_p.R457Q|RIMS1_uc003pgf.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgg.2_Missense_Mutation_p.R215Q|RIMS1_uc003pgi.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgh.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgd.2_Missense_Mutation_p.R215Q|RIMS1_uc003pge.2_Missense_Mutation_p.R215Q|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R624Q|RIMS1_uc010kas.1_Missense_Mutation_p.R457Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353		NA											13	85					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83872585	83872585	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:83872585G>A	uc003pjs.1	+	38	7299	c.7039G>A	c.(7039-7041)GAA>AAA	p.E2347K	DOPEY1_uc011dyy.1_Missense_Mutation_p.E2338K|DOPEY1_uc010kbl.1_Missense_Mutation_p.E2338K|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2347					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATCAACGAGAATTTAAACC	0.393		NA											38	84					0	0	0	0
GRM1	2911	broad.mit.edu	37	6	146755794	146755794	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr6:146755794G>A	uc010khw.1	+	9	3917	c.3447G>A	c.(3445-3447)TCG>TCA	p.S1149S	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1149	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGCCTCCGTCGCCTTTCCGCG	0.652		NA											21	77					0	0	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:8790658G>A	uc003srv.2	+	3	986	c.75G>A	c.(73-75)ACG>ACA	p.T25T	NXPH1_uc011jxh.1_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	25	II.					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423		NA											32	69					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43484716	43484716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:43484716G>A	uc003tid.1	+	11	2550	c.1945G>A	c.(1945-1947)GAC>AAC	p.D649N	HECW1_uc011kbi.1_Missense_Mutation_p.D649N	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	649					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CCAGGATGGCGACACGCACCC	0.721		NA											9	17					0	0	0	0
LRRN3	54674	broad.mit.edu	37	7	110763263	110763263	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr7:110763263C>A	uc003vft.3	+	4	1481	c.435C>A	c.(433-435)CTC>CTA	p.L145L	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.L145L|LRRN3_uc003vfs.3_Silent_p.L145L	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	145	LRR 4.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACAAGAACTCTATATTAATC	0.373		NA											5	49					0.00116845	0.00138319	1	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900702	22900702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:22900702C>T	uc003xcu.2	-	2	492	c.199G>A	c.(199-201)GCG>ACG	p.A67T	TNFRSF10B_uc003xct.2_Missense_Mutation_p.A67T|TNFRSF10B_uc011kzq.1_Intron|TNFRSF10B_uc003xcv.2_5'UTR	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,	67	Extracellular (Potential).|TNFR-Cys 1.				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGTGGGGCCGCTCTCTGCTGG	0.572		NA											5	38					0	0	0	0
XKR4	114786	broad.mit.edu	37	8	56015652	56015652	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr8:56015652G>T	uc003xsf.2	+	1	636	c.604G>T	c.(604-606)GCC>TCC	p.A202S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	202						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGTCTGCAGCCGGGGAAGG	0.677		NA											15	38					6.72e-11	8.98e-11	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:21971120G>A	uc003zpk.2	-	2	450	c.238C>T	c.(238-240)CGA>TGA	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		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.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	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)			11	9					0	0	0	0
VPS13A	23230	broad.mit.edu	37	9	79938130	79938130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:79938130G>T	uc004akr.2	+	45	6238	c.5978G>T	c.(5977-5979)CGC>CTC	p.R1993L	VPS13A_uc004akp.3_Missense_Mutation_p.R1993L|VPS13A_uc004akq.3_Missense_Mutation_p.R1993L|VPS13A_uc004aks.2_Missense_Mutation_p.R1954L|VPS13A_uc004akt.2_Missense_Mutation_p.R333L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1993					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GTCACAATTCGCTCCCCAGTG	0.383		NA											17	33					3.41e-10	4.48e-10	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617576	111617576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:111617576C>G	uc004bdi.2	-	1	700	c.635G>C	c.(634-636)GGC>GCC	p.G212A		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						CAGCACGTCGCCCTCGGATAT	0.662		NA											6	38					0	0	0	0
MEGF9	1955	broad.mit.edu	37	9	123476176	123476176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:123476176G>T	uc004bkj.1	-	1	437	c.437C>A	c.(436-438)CCG>CAG	p.P146Q	MEGF9_uc011lyb.1_Missense_Mutation_p.P146Q|MEGF9_uc004bkk.3_Missense_Mutation_p.P146Q	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	154	Extracellular (Potential).|Pro-rich.					integral to membrane	calcium ion binding				0						GGTCGGCGCCGGGCCAGTGGT	0.741		NA											6	47					2.74e-10	3.62e-10	1	0
NOTCH1	4851	broad.mit.edu	37	9	139405210	139405210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr9:139405210G>A	uc004chz.2	-	17	2635	c.2635C>T	c.(2635-2637)CGG>TGG	p.R879W	NOTCH1_uc004cia.1_Missense_Mutation_p.R109W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	879	Extracellular (Potential).|EGF-like 23; 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			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)		GCGCCGTGCCGGCACGGGCTC	0.701		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			11	43					0	0	0	0
FAM47A	158724	broad.mit.edu	37	X	34149633	34149633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:34149633G>A	uc004ddg.2	-	1	796	c.763C>T	c.(763-765)CGT>TGT	p.R255C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	255										ovary(4)|central_nervous_system(1)	5						GATCTCCGACGAGTGATGGGA	0.622		NA											8	17					0	0	0	0
FAM155B	27112	broad.mit.edu	37	X	68725656	68725656	+	Silent	SNP	C	C	A	rs142803076	byFrequency	TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:68725656C>A	uc004dxk.2	+	1	579	c.531C>A	c.(529-531)GCC>GCA	p.A177A		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	177						integral to membrane				ovary(1)|breast(1)	2						GTGCCCCGGCCGAGTTCCCCT	0.577		NA											19	40					0.006122	0.00716962	1	0
PCDH19	57526	broad.mit.edu	37	X	99662705	99662705	+	Silent	SNP	C	C	A			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:99662705C>A	uc010nmz.2	-	1	2567	c.891G>T	c.(889-891)CTG>CTT	p.L297L	PCDH19_uc004efw.3_Silent_p.L297L|PCDH19_uc004efx.3_Silent_p.L297L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	297	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TGACAGTGACCAGGCCACTGT	0.597		NA											43	44					9.39e-22	1.33e-21	1	0
ATP2B3	492	broad.mit.edu	37	X	152808591	152808591	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chrX:152808591C>G	uc004fht.1	+	5	1007	c.881C>G	c.(880-882)GCT>GGT	p.A294G	ATP2B3_uc004fhs.1_Missense_Mutation_p.A294G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	294	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTGGAGCTGGCGGAGAG	0.572		NA											26	49					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579390	7579393	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:7579390_7579393delGGAA	uc002gim.2	-	4	488_491	c.294_297delTTCC	c.(292-297)CCTTCCfs	p.P98fs	TP53_uc002gig.1_Frame_Shift_Del_p.P98fs|TP53_uc002gih.2_Frame_Shift_Del_p.P98fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P98fs|TP53_uc010cni.1_Frame_Shift_Del_p.P98fs|TP53_uc002gij.2_Frame_Shift_Del_p.P98fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P59fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	98_99	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.P98S(4)|p.S99fs*48(3)|p.G59fs*23(3)|p.P98L(2)|p.S99F(2)|p.V73fs*9(1)|p.S99P(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S99fs*24(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)		AGGTTTTCTGGGAAGGGACAGAAG	0.642		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)			72	59	---	---	---	---	NA	NA	NA	NA
MYO1D	4642	broad.mit.edu	37	17	31094740	31094741	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr17:31094740_31094741delCT	uc002hho.1	-	7	756_757	c.744_745delAG	c.(742-747)AGAGTTfs	p.R248fs	MYO1D_uc002hhp.1_Frame_Shift_Del_p.R248fs|MYO1D_uc010wcb.1_Frame_Shift_Del_p.R248fs	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	248_249	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGCAACAACTCTGAATTCGG	0.381		NA											18	26	---	---	---	---	NA	NA	NA	NA
MUC16	94025	broad.mit.edu	37	19	9061827	9061828	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr19:9061827_9061828delAT	uc002mkp.2	-	3	25822_25823	c.25618_25619delAT	c.(25618-25620)ATGfs	p.M8540fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8542	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTTCTACTCATAAGAGTGGTC	0.52		NA											16	73	---	---	---	---	NA	NA	NA	NA
UXS1	80146	broad.mit.edu	37	2	106774513	106774513	+	Splice_Site	DEL	C	C	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr2:106774513delC	uc002tdm.2	-	5	374	c.276_splice	c.e5+1	p.L92_splice	UXS1_uc002tdn.2_Splice_Site_p.L97_splice|UXS1_uc002tdo.2_Splice_Site_p.L35_splice|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1						cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						TGCAAACTTACCAAAATTCTT	0.219		NA											2	4	---	---	---	---	NA	NA	NA	NA
EIF2S2	8894	broad.mit.edu	37	20	32693175	32693175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr20:32693175delT	uc002xaf.2	-	2	361	c.192delA	c.(190-192)AAAfs	p.K64fs	EIF2S2_uc002xag.2_Frame_Shift_Del_p.K64fs|EIF2S2_uc010ges.2_Frame_Shift_Del_p.K39fs	NM_003908	NP_003899	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2 beta	64						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			large_intestine(1)	1						ACCACGCACCTTTTTTCCTAG	0.483		NA											7	1120	---	---	---	---	NA	NA	NA	NA
AMIGO3	386724	broad.mit.edu	37	3	49755604	49755605	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-6959-01A-11D-1912-08	TCGA-CV-6959-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ff4cc4f1-9897-4d04-a3f6-c28a9b928b7a	7c304ced-63fd-4624-9b57-e4196f5b1e3a	g.chr3:49755604_49755605delTG	uc003cxj.2	-	1	1634_1635	c.1294_1295delCA	c.(1294-1296)CAGfs	p.Q432fs	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	432	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACTGAGGACTGTGCGCTCAGC	0.525		NA											27	108	---	---	---	---	NA	NA	NA	NA