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
LIN28A	79727	broad.mit.edu	37	1	26752814	26752814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:26752814G>C	uc001bmj.2	+	4	609	c.495G>C	c.(493-495)CAG>CAC	p.Q165H	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	165	CCHC-type 2.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1						ACTTCTGCCAGAGCATCAGCC	0.532		NA											9	54					0	0	0	0
COL9A2	1298	broad.mit.edu	37	1	40771397	40771397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:40771397G>A	uc001cfh.1	-	21	1167	c.1097C>T	c.(1096-1098)CCT>CTT	p.P366L	COL9A2_uc001cfi.1_Missense_Mutation_p.P185L	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	366	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCTTTCCCAGGGGGACCAGA	0.557		NA											11	43					0	0	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861599	67861599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:67861599G>A	uc001ddu.2	+	16	3056	c.2416G>A	c.(2416-2418)GAT>AAT	p.D806N	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.D720N|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	806	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						CTCCAACATAGATGACCTCCC	0.577		NA											62	175					0	0	0	0
ZNF644	84146	broad.mit.edu	37	1	91403926	91403926	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91403926G>A	uc001dnw.2	-	3	3127	c.2985C>T	c.(2983-2985)GCC>GCT	p.A995A	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.A995A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAACATGACGGGCTTCATAGC	0.428		NA											17	56					0	0	0	0
ZNF644	84146	broad.mit.edu	37	1	91405606	91405606	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91405606C>T	uc001dnw.2	-	3	1447	c.1305G>A	c.(1303-1305)GGG>GGA	p.G435G	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.G435G	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTGACTATTCCCATCTAAAT	0.413		NA											20	56					0	0	0	0
DPYD	1806	broad.mit.edu	37	1	97770874	97770874	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:97770874T>A	uc001drv.2	-	18	2377	c.2240A>T	c.(2239-2241)GAT>GTT	p.D747V		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	747					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGTGTGCCATCAGATTTTAA	0.478		NA											23	66					0	0	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294748	110294748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:110294748G>A	uc001dyr.1	-	15	1448	c.1303C>T	c.(1303-1305)CAG>TAG	p.Q435*	EPS8L3_uc001dys.1_Intron|EPS8L3_uc001dyq.1_Nonsense_Mutation_p.Q436*|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	435						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCCCCAGGCTGAGGGTCATGG	0.562		NA											36	133					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539638	120539638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:120539638C>A	uc001eik.2	-	4	989	c.733G>T	c.(733-735)GAG>TAG	p.E245*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.E245*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.E162*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	245	EGF-like 6.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTTGCACTCAAAAGTGAAG	0.547		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				7	31					0.000157383	0.000267598	1	0
ACP6	51205	broad.mit.edu	37	1	147131783	147131783	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:147131783T>C	uc001epr.2	-	2	791	c.327A>G	c.(325-327)CAA>CAG	p.Q109Q	ACP6_uc009wjj.1_Intron	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	109					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					TCTCATGGTATTGAGAGTCGT	0.517		NA											12	89					0	0	0	0
ANP32E	81611	broad.mit.edu	37	1	150199019	150199019	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:150199019T>C	uc001etw.2	-	5	972	c.602A>G	c.(601-603)GAT>GGT	p.D201G	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.D153G|ANP32E_uc010pbv.1_Missense_Mutation_p.D160G|ANP32E_uc001etv.3_Missense_Mutation_p.D201G|ANP32E_uc010pbw.1_Missense_Mutation_p.M146V	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	201	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ttcatcttcatcttcatcctc	0.308		NA											29	65					0	0	0	0
OR10J1	26476	broad.mit.edu	37	1	159410091	159410091	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:159410091T>C	uc010piv.1	+	1	543	c.543T>C	c.(541-543)GCT>GCC	p.A181A	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	181	Extracellular (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CCTTCTGTGCTAGAAAGGTGC	0.493		NA											64	154					0	0	0	0
PVRL4	81607	broad.mit.edu	37	1	161047483	161047483	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161047483C>A	uc001fxo.2	-	3	789	c.490G>T	c.(490-492)GGC>TGC	p.G164C	PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	164	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGGTCAGGCCCTGGCCCTCT	0.627		NA											12	57					6.4e-05	0.000109821	1	0
KLHDC9	126823	broad.mit.edu	37	1	161069390	161069390	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161069390G>A	uc001fxr.2	+	3	862	c.690G>A	c.(688-690)GAG>GAA	p.E230E	KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.G237R	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	kelch/ankyrin repeat containing cyclin A1	230											0	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCAAGGAGGAACCACCTG	0.512		NA											293	246					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197070918	197070918	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:197070918T>G	uc001gtu.2	-	18	7720	c.7463A>C	c.(7462-7464)CAG>CCG	p.Q2488P	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q336P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2488	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAAAGTAGCCTGAATGAGAAC	0.363		NA											15	112					0	0	0	0
KIF21B	23046	broad.mit.edu	37	1	200944027	200944027	+	Silent	SNP	C	C	T	rs140999969		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:200944027C>T	uc001gvs.1	-	34	4946	c.4629G>A	c.(4627-4629)GCG>GCA	p.A1543A	KIF21B_uc001gvr.1_Silent_p.A1530A|KIF21B_uc009wzl.1_Silent_p.A1543A|KIF21B_uc010ppn.1_Silent_p.A1530A	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1543	WD 6.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						AGTCCTTGTGCGCATTGGGGA	0.642		NA											16	131					0	0	0	0
CNTN2	6900	broad.mit.edu	37	1	205034931	205034931	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205034931G>A	uc001hbr.2	+	14	1979	c.1710G>A	c.(1708-1710)GGG>GGA	p.G570G	CNTN2_uc001hbq.1_Silent_p.G461G|CNTN2_uc001hbs.2_Silent_p.G358G	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	570	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCATTGGGGATCTGACCA	0.642		NA											9	71					0	0	0	0
DSTYK	25778	broad.mit.edu	37	1	205130494	205130494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205130494G>A	uc001hbw.2	-	7	1904	c.1840C>T	c.(1840-1842)CGG>TGG	p.R614W	DSTYK_uc001hbx.2_Missense_Mutation_p.R614W|DSTYK_uc001hby.1_Missense_Mutation_p.R75W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	614						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TTCTCTAACCGGCCTGAGTGG	0.383		NA											26	76					0	0	0	0
DISP1	84976	broad.mit.edu	37	1	223177961	223177961	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:223177961C>T	uc001hnu.1	+	8	3369	c.3222C>T	c.(3220-3222)TTC>TTT	p.F1074F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1074					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AAGTGATCTTCTCTCTGAGTC	0.587		NA											24	78					0	0	0	0
WNT3A	89780	broad.mit.edu	37	1	228210572	228210572	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:228210572C>T	uc001hrq.1	+	2	354	c.276C>T	c.(274-276)CAC>CAT	p.H92H	WNT3A_uc001hrp.1_Silent_p.H92H	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	92					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				CCACCGTCCACGACAGCCTGG	0.652		NA											14	77					0	0	0	0
FMN2	56776	broad.mit.edu	37	1	240555811	240555811	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:240555811C>A	uc010pyd.1	+	15	5084	c.4859C>A	c.(4858-4860)GCC>GAC	p.A1620D	FMN2_uc010pye.1_Missense_Mutation_p.A1624D|FMN2_uc010pyf.1_Missense_Mutation_p.A235D|FMN2_uc010pyg.1_Missense_Mutation_p.A216D	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1620	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCACTTTCAGCCAAAATTGAC	0.328		NA											29	100					1.16e-09	2.05e-09	1	0
GPR158	57512	broad.mit.edu	37	10	25887168	25887168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:25887168G>T	uc001isj.2	+	11	2673	c.2613G>T	c.(2611-2613)GAG>GAT	p.E871D	GPR158_uc001isk.2_Missense_Mutation_p.E246D	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	871	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AGTCCACGGAGTCGGTGCCGT	0.498		NA											28	78					5.62e-17	1.01e-16	1	0
DNA2	1763	broad.mit.edu	37	10	70225525	70225525	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:70225525G>A	uc001jof.2	-	4	744	c.744C>T	c.(742-744)CTC>CTT	p.L248L	DNA2_uc001jog.1_Silent_p.L162L|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	162					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						ACACCTCATGGAGAACCGTAC	0.358		NA											6	25					0	0	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048805	102048805	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:102048805T>A	uc001kqx.1	-	15	2642	c.2259A>T	c.(2257-2259)CAA>CAT	p.Q753H	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.Q706H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	753	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAAATAGCTTGTTCCTTCT	0.502		NA											27	31					0	0	0	0
TDRD1	56165	broad.mit.edu	37	10	115985910	115985910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:115985910G>A	uc001lbg.1	+	22	3263	c.3110G>A	c.(3109-3111)AGA>AAA	p.R1037K	TDRD1_uc001lbf.2_Missense_Mutation_p.R914K|TDRD1_uc001lbh.1_Missense_Mutation_p.R1024K|TDRD1_uc001lbi.1_Missense_Mutation_p.R1028K|TDRD1_uc010qsc.1_Missense_Mutation_p.R641K|TDRD1_uc001lbj.2_Missense_Mutation_p.R746K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1037	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTCTTTGCAGAGTGCAACCA	0.438		NA											13	44					0	0	0	0
OR51A4	401666	broad.mit.edu	37	11	4967807	4967807	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:4967807T>C	uc010qys.1	-	1	524	c.524A>G	c.(523-525)CAA>CGA	p.Q175R		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGATAATTGGTTTTTCTT	0.413		NA											48	73					0	0	0	0
NRIP3	56675	broad.mit.edu	37	11	9009124	9009124	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:9009124G>A	uc001mhg.2	-	3	507	c.393C>T	c.(391-393)CTC>CTT	p.L131L	NRIP3_uc010rbu.1_Silent_p.L131L	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCAAAGAGATGAGATTATATA	0.453		NA											18	82					0	0	0	0
TRMT112	51504	broad.mit.edu	37	11	64084793	64084793	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:64084793G>A	uc001nzt.2	-	2	158	c.123C>T	c.(121-123)TTC>TTT	p.F41F	PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	NM_016404	NP_057488	Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog	41	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity				0						TACGCGCCACGAAGTTGGGGT	0.632		NA											35	44					0	0	0	0
P2RY2	5029	broad.mit.edu	37	11	72946234	72946234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:72946234A>G	uc001otj.2	+	3	1363	c.1030A>G	c.(1030-1032)ACT>GCT	p.T344A	P2RY2_uc001otk.2_Missense_Mutation_p.T344A|P2RY2_uc001otl.2_Missense_Mutation_p.T344A	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	344	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	ATCCGACAGAACTGACATGCA	0.632		NA											18	153					0	0	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035195	110035195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:110035195G>A	uc009yxw.2	+	6	1436	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E	ZC3H12C_uc010rwc.1_Missense_Mutation_p.G463E|ZC3H12C_uc010rwd.1_Missense_Mutation_p.G463E|ZC3H12C_uc001pkr.3_Missense_Mutation_p.G431E	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	462							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAAACGAAGGAGGACTGGTG	0.493		NA											25	30					0	0	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781799	128781799	+	Missense_Mutation	SNP	C	C	T	rs143790141		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:128781799C>T	uc001qet.2	+	2	945	c.631C>T	c.(631-633)CGG>TGG	p.R211W	KCNJ5_uc009zck.2_Missense_Mutation_p.R211W|KCNJ5_uc001qew.2_Missense_Mutation_p.R211W	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	211	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATCTCCATGCGGGACGAGAA	0.587		NA											18	65					0	0	0	0
APLP2	334	broad.mit.edu	37	11	129979472	129979472	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:129979472A>T	uc010sby.1	+	2	411	c.254A>T	c.(253-255)GAA>GTA	p.E85V	APLP2_uc001qfp.2_Missense_Mutation_p.E85V|APLP2_uc001qfq.2_Missense_Mutation_p.E85V|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Missense_Mutation_p.E85V|APLP2_uc001qfv.2_Missense_Mutation_p.E32V	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	85	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAAACAAAAGAAGAAGTTCTT	0.403		NA											14	21					0	0	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027520	2027520	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:2027520C>A	uc001qjp.2	-	1	351	c.120G>T	c.(118-120)ATG>ATT	p.M40I	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.M40I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	40	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCCACGGGCATTGGCTGGA	0.657		NA											8	14					5.18e-06	8.94e-06	1	0
LRRK2	120892	broad.mit.edu	37	12	40646775	40646775	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:40646775C>T	uc001rmg.3	+	11	1366	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F	LRRK2_uc001rmh.1_Silent_p.F37F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	415					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)				AGGAAGTTTTCCAGGCATCTG	0.363		NA											13	28					0	0	0	0
APAF1	317	broad.mit.edu	37	12	99060002	99060002	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:99060002A>T	uc001tfz.2	+	9	1806	c.1229A>T	c.(1228-1230)GAA>GTA	p.E410V	APAF1_uc001tfy.2_Missense_Mutation_p.E399V|APAF1_uc001tga.2_Missense_Mutation_p.E399V|APAF1_uc001tgb.2_Missense_Mutation_p.E410V|APAF1_uc001tgc.2_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	410	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GAAACTGAAGAAGTTGAAGAC	0.348		NA											19	68					0	0	0	0
FLT1	2321	broad.mit.edu	37	13	28959102	28959102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:28959102G>T	uc001usb.3	-	14	2321	c.2036C>A	c.(2035-2037)ACT>AAT	p.T679N	FLT1_uc010aar.1_Missense_Mutation_p.T679N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	679	Ig-like C2-type 7.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACAGTCTAAAGTGGTGGAACT	0.448		NA											21	82					2.28e-05	3.92e-05	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327768	88327768	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:88327768A>T	uc001vln.2	+	2	344	c.125A>T	c.(124-126)GAT>GTT	p.D42V	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	42	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCATCGATTATTATGGG	0.453		NA											23	133					0	0	0	0
OR4M1	441670	broad.mit.edu	37	14	20248700	20248700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:20248700C>G	uc010tku.1	+	1	219	c.219C>G	c.(217-219)TAC>TAG	p.Y73*		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTGGTACTCTTCCATTA	0.423		NA											111	356					0	0	0	0
DHRS4	10901	broad.mit.edu	37	14	24438079	24438079	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:24438079G>C	uc001wla.2	+	8	869	c.836G>C	c.(835-837)TGA>TCA	p.*279S	DHRS4_uc001wlb.2_Nonstop_Mutation_p.*245S|DHRS4_uc010akz.2_Nonstop_Mutation_p.*200S|DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|uc001wlf.2_5'Flank|DHRS4L2_uc001wlg.3_5'Flank|DHRS4L2_uc001wlh.3_5'Flank	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	peroxisomal short-chain alcohol dehydrogenase	279						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TCCCGCCTCTGAGGACCGGGA	0.597		NA											8	19					0	0	0	0
C14orf106	55320	broad.mit.edu	37	14	45679706	45679706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:45679706T>A	uc001wwf.2	-	14	3488	c.3029A>T	c.(3028-3030)GAT>GTT	p.D1010V		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	1010	Poly-Asp.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						ATCATCATCATCTTCACTGTC	0.363		NA											29	62					0	0	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191487	72191487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:72191487G>A	uc001xms.2	+	17	4960	c.4612G>A	c.(4612-4614)GAA>AAA	p.E1538K	SIPA1L1_uc001xmt.2_Missense_Mutation_p.E1517K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E1517K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E1538K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E992K|SIPA1L1_uc001xmw.2_Missense_Mutation_p.E303K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1538					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCACCATTGAAGAAGATCT	0.478		NA											13	57					0	0	0	0
ESRRB	2103	broad.mit.edu	37	14	76948418	76948418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:76948418G>A	uc001xsq.1	+	4	641	c.574G>A	c.(574-576)GAG>AAG	p.E192K	ESRRB_uc001xsr.2_Missense_Mutation_p.E192K|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCTGGACTCAGAGAGCAGCCC	0.527		NA											5	59					0	0	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40268785	40268785	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40268785G>A	uc001zkm.1	+	12	2039	c.1989G>A	c.(1987-1989)GCG>GCA	p.A663A	EIF2AK4_uc010bbj.1_Silent_p.A392A	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	663	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGGCCGGCGGGACCGGGGA	0.692		NA											8	29					0	0	0	0
PLCB2	5330	broad.mit.edu	37	15	40581116	40581116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40581116G>A	uc001zld.2	-	32	3659	c.3358C>T	c.(3358-3360)CAG>TAG	p.Q1120*	PLCB2_uc001zlc.2_Nonsense_Mutation_p.Q104*|PLCB2_uc010bbo.2_Nonsense_Mutation_p.Q1116*|PLCB2_uc010ucm.1_Nonsense_Mutation_p.Q1105*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1120	Potential.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGA	0.632		NA											5	58					0	0	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:48500135C>A	uc001zwn.3	+	2	435	c.219C>A	c.(217-219)TTC>TTA	p.F73L	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.F73L|SLC12A1_uc010uex.1_Missense_Mutation_p.F73L	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	73	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428		NA											13	58					2.62e-11	4.66e-11	1	0
PRTG	283659	broad.mit.edu	37	15	55931883	55931883	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:55931883G>T	uc002adg.2	-	13	2329	c.2281C>A	c.(2281-2283)CCT>ACT	p.P761T		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	761	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGCCAACAGGATTACAGCGG	0.478		NA											16	82					3.33e-07	5.8e-07	1	0
SLTM	79811	broad.mit.edu	37	15	59185178	59185178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:59185178G>A	uc002afp.2	-	14	1904	c.1816C>T	c.(1816-1818)CCT>TCT	p.P606S	SLTM_uc002afn.2_Missense_Mutation_p.P148S|SLTM_uc002afo.2_Missense_Mutation_p.P588S|SLTM_uc002afq.2_Missense_Mutation_p.P175S|SLTM_uc010bgd.2_Missense_Mutation_p.P175S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	606	Arg/Glu-rich.			P -> S (in Ref. 3; AAH14944).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTTTCAAAAGGCAAGATCTCT	0.368		NA											12	38					0	0	0	0
LARP6	55323	broad.mit.edu	37	15	71124564	71124564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:71124564T>A	uc002ass.2	-	3	1374	c.1303A>T	c.(1303-1305)AGG>TGG	p.R435W		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	435					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						TGGCGACGCCTCCGGACCCAG	0.612		NA											44	80					0	0	0	0
ISLR	3671	broad.mit.edu	37	15	74467616	74467616	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:74467616C>T	uc002axg.1	+	2	699	c.417C>T	c.(415-417)CGC>CGT	p.R139R	ISLR_uc002axh.1_Silent_p.R139R	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	139	LRR 4.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TCATCCCCCGCGACGCCTTCC	0.612		NA											18	63					0	0	0	0
SPATA8	145946	broad.mit.edu	37	15	97327425	97327425	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:97327425C>T	uc002bue.2	+	2	342	c.132C>T	c.(130-132)TGC>TGT	p.C44C	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	44										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CATGTCCCTGCGGCTGGAGGC	0.587		NA											17	96					0	0	0	0
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:1033825C>T	uc002ckn.2	+	2	635	c.520C>T	c.(520-522)CGG>TGG	p.R174W	LMF1_uc002ckk.2_5'Flank|uc002ckm.1_5'Flank	NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677		NA											11	40					0	0	0	0
ERN2	10595	broad.mit.edu	37	16	23706682	23706682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:23706682C>T	uc002dma.3	-	15	1952	c.1783G>A	c.(1783-1785)GTC>ATC	p.V595I	ERN2_uc010bxp.2_Missense_Mutation_p.V543I	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	547	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCGCTTGACAGCCACTGCC	0.582		NA											4	15					0	0	0	0
TOX3	27324	broad.mit.edu	37	16	52473856	52473857	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:52473856_52473857GG>CT	uc002egw.2	-	7	1182_1183	c.1011_1012CC>AG	c.(1009-1014)GCCCAG>GCAGAG	p.Q338E	TOX3_uc010vgt.1_Missense_Mutation_p.Q333E|TOX3_uc010vgu.1_Missense_Mutation_p.Q338E	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	338					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						CGGATGGTCTGGGCTTCTGCTG	0.436		NA											13	56					0	0	0	0
MON1B	22879	broad.mit.edu	37	16	77229484	77229484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:77229484G>T	uc002fez.2	+	5	1678	c.1348G>T	c.(1348-1350)GAC>TAC	p.D450Y	MON1B_uc010vnf.1_Missense_Mutation_p.D341Y|MON1B_uc010vng.1_Missense_Mutation_p.D304Y|MON1B_uc002ffa.2_Missense_Mutation_p.D330Y	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	450							protein binding				0						GCGGCTGTCGGACCTGTACCA	0.627		NA											7	40					5.49e-09	9.62e-09	1	0
WWOX	51741	broad.mit.edu	37	16	78198111	78198111	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:78198111T>G	uc002ffk.2	+	5	566	c.441T>G	c.(439-441)CAT>CAG	p.H147Q	WWOX_uc010vnk.1_Missense_Mutation_p.H34Q|WWOX_uc002ffl.2_Missense_Mutation_p.H147Q|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.H147Q	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	147	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTGCCCTCCATGGTGCACATG	0.443		NA											15	34					0	0	0	0
TUBB3	10381	broad.mit.edu	37	16	89986186	89986186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:89986186G>A	uc002fpf.2	+	1	928	c.520G>A	c.(520-522)GTC>ATC	p.V174I	MC1R_uc002fpe.3_Missense_Mutation_p.V174I|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCCAGTGTCGTCTTCAGCAC	0.632		NA											12	58					0	0	0	0
CYB5D2	124936	broad.mit.edu	37	17	4053285	4053285	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:4053285C>T	uc002fxm.3	+	2	939	c.351C>T	c.(349-351)CAC>CAT	p.H117H	CYB5D2_uc010cko.2_Silent_p.H5H|CYB5D2_uc002fxl.3_Silent_p.H5H	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	117	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			large_intestine(2)|ovary(1)	3						TGACACTTCACAATTGGCTTT	0.493		NA											32	36					0	0	0	0
NLGN2	57555	broad.mit.edu	37	17	7318427	7318427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7318427C>G	uc002ggt.1	+	5	1070	c.997C>G	c.(997-999)CCC>GCC	p.P333A		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	333	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				GCGCCGGAAGCCCTCCCGGGA	0.652		NA											26	36					0	0	0	0
SMCR8	140775	broad.mit.edu	37	17	18219330	18219330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18219330C>A	uc002gsy.3	+	1	737	c.227C>A	c.(226-228)CCC>CAC	p.P76H		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	76										central_nervous_system(1)	1						CTGACCATCCCCAATGACACC	0.502		NA											6	166					8.13e-05	0.000139028	1	0
PRPSAP2	5636	broad.mit.edu	37	17	18781170	18781170	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18781170G>C	uc002gup.1	+	6	610	c.399G>C	c.(397-399)ATG>ATC	p.M133I	PRPSAP2_uc002guo.1_Missense_Mutation_p.M47I|PRPSAP2_uc010vyi.1_Missense_Mutation_p.M81I|PRPSAP2_uc010vyj.1_Missense_Mutation_p.M47I|PRPSAP2_uc010vyk.1_Missense_Mutation_p.M121I	NM_002767	NP_002758	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate	133					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1						TGGCTTCCATGATGTGCAAAG	0.363		NA											21	64					0	0	0	0
SRCIN1	80725	broad.mit.edu	37	17	36734745	36734745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:36734745G>C	uc002hqd.2	-	2	547	c.322C>G	c.(322-324)CAG>GAG	p.Q108E	SRCIN1_uc002hqh.1_Missense_Mutation_p.Q142E	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CCACTCACCTGCTCTCGCATC	0.701		NA											6	21					0	0	0	0
TNFSF9	8744	broad.mit.edu	37	19	6532808	6532808	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:6532808G>A	uc002mfh.2	+	2	317	c.279G>A	c.(277-279)GCG>GCA	p.A93A		NM_003811	NP_003802	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily,	93	Extracellular (Potential).				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1						GCATGTTTGCGCAGCTGGTGG	0.577		NA											56	71					0	0	0	0
AP1M1	8907	broad.mit.edu	37	19	16319879	16319879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:16319879C>T	uc002ndu.2	+	5	610	c.437C>T	c.(436-438)GCC>GTC	p.A146V	AP1M1_uc002ndv.2_Missense_Mutation_p.A146V|AP1M1_uc010xpd.1_Missense_Mutation_p.A146V	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(3)|breast(1)	4						GAAACAGGGGCCCCGCGGCCA	0.612		NA											27	49					0	0	0	0
NCAN	1463	broad.mit.edu	37	19	19330033	19330033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:19330033G>A	uc002nlz.2	+	3	482	c.383G>A	c.(382-384)GGG>GAG	p.G128E		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	128	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CTACTTCTGGGGCCACTGAGG	0.642		NA											9	12					0	0	0	0
ZNF100	163227	broad.mit.edu	37	19	21910770	21910770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:21910770T>A	uc002nqi.2	-	5	543	c.344A>T	c.(343-345)CAA>CTA	p.Q115L	ZNF100_uc002nqh.2_Missense_Mutation_p.Q51L	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCAAAGGTCTTGGGGAAAATG	0.303		NA											7	29					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:40367841T>G	uc002omp.3	-	29	13127	c.13119A>C	c.(13117-13119)GCA>GCC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4373	TIL 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627		NA											5	9					0	0	0	0
PRKCG	5582	broad.mit.edu	37	19	54401269	54401269	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:54401269C>T	uc002qcq.1	+	10	1278	c.996C>T	c.(994-996)ACC>ACT	p.T332T	PRKCG_uc010yef.1_Missense_Mutation_p.P303L|PRKCG_uc010yeg.1_Silent_p.T332T|PRKCG_uc010yeh.1_Silent_p.T219T	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	332					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		cTAGTCCCACCGACCCCAAGC	0.473		NA											11	81					0	0	0	0
NLRP2	55655	broad.mit.edu	37	19	55495011	55495011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:55495011A>G	uc002qij.2	+	6	2031	c.1945A>G	c.(1945-1947)AAC>GAC	p.N649D	NLRP2_uc010yfp.1_Missense_Mutation_p.N626D|NLRP2_uc010esn.2_Missense_Mutation_p.N625D|NLRP2_uc010eso.2_Missense_Mutation_p.N646D|NLRP2_uc010esp.2_Missense_Mutation_p.N627D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	649					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCACTGTCGAAACCTGCAGAA	0.483		NA											10	46					0	0	0	0
FIZ1	84922	broad.mit.edu	37	19	56104200	56104200	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:56104200C>T	uc002qli.3	-	3	1197	c.1107G>A	c.(1105-1107)GCG>GCA	p.A369A	FIZ1_uc002qlj.3_Silent_p.A369A	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	369	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGGCGGCCAGCGCCGCGTACA	0.766		NA											4	7					0	0	0	0
ZNF304	57343	broad.mit.edu	37	19	57868268	57868268	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:57868268A>G	uc010ygw.1	+	3	1419	c.1031A>G	c.(1030-1032)TAC>TGC	p.Y344C	ZNF304_uc010etw.2_Missense_Mutation_p.Y391C|ZNF304_uc010etx.2_Missense_Mutation_p.Y302C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	344	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAAAAGCCTACAGCAGAAGC	0.473		NA											16	37					0	0	0	0
CAD	790	broad.mit.edu	37	2	27457394	27457394	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:27457394G>A	uc002rji.2	+	23	3789	c.3627G>A	c.(3625-3627)CAG>CAA	p.Q1209Q	CAD_uc010eyw.2_Silent_p.Q1146Q	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1209	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGATGACCAGCTGAAAGTTA	0.383		NA											35	158					0	0	0	0
SPRED2	200734	broad.mit.edu	37	2	65541019	65541019	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:65541019C>T	uc002sdr.3	-	6	1408	c.873G>A	c.(871-873)CAG>CAA	p.Q291Q	SPRED2_uc010fcw.2_Silent_p.Q288Q	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	291					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						CCCGGGAGGGCTGCGTCTTGA	0.662		NA											21	96					0	0	0	0
AUP1	550	broad.mit.edu	37	2	74755571	74755571	+	Silent	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:74755571C>A	uc010yrx.1	-	4	867	c.741G>T	c.(739-741)CTG>CTT	p.L247L	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Silent_p.L190L|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.L99L|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	256	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						TCTGAACTTGCAGGGTAAGAG	0.527		NA											17	44					9.77e-05	0.000166535	1	0
ADRA2B	151	broad.mit.edu	37	2	96780623	96780623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:96780623G>C	uc002svi.2	-	3	1275	c.1275C>G	c.(1273-1275)ATC>ATG	p.I425M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	425	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGATGGTGTAGATAACAGGGT	0.627		NA											5	30					0	0	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257536	114257536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:114257536C>G	uc002tjw.3	+	1	876	c.703C>G	c.(703-705)CTG>GTG	p.L235V		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	235	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCCAGGCCCTCTGCTTGGGGC	0.726		NA											28	113					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179427268	179427268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179427268G>T	uc010zfg.1	-	275	76111	c.75887C>A	c.(75886-75888)CCC>CAC	p.P25296H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18991H|TTN_uc010zfi.1_Missense_Mutation_p.P18924H|TTN_uc010zfj.1_Missense_Mutation_p.P18799H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26223							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)			AGGTGGGAGGGGTGGTTCAGA	0.448		NA											12	55					3.07e-06	5.32e-06	1	0
TTN	7273	broad.mit.edu	37	2	179638736	179638736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179638736C>T	uc010zfg.1	-	31	7383	c.7159G>A	c.(7159-7161)GTC>ATC	p.V2387I	TTN_uc010zfh.1_Missense_Mutation_p.V2341I|TTN_uc010zfi.1_Missense_Mutation_p.V2341I|TTN_uc010zfj.1_Missense_Mutation_p.V2341I|TTN_uc002unb.2_Missense_Mutation_p.V2387I|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2387							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)			TTCATCCAGACGCCTTCCACA	0.463		NA											21	107					0	0	0	0
SF3B1	23451	broad.mit.edu	37	2	198272767	198272767	+	Silent	SNP	T	T	C	rs71422649	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:198272767T>C	uc002uue.2	-	9	1242	c.1194A>G	c.(1192-1194)CCA>CCG	p.P398P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	398	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATCAGAAAGTGGGCGATTTC	0.358		NA											12	32					0	0	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116737	220116737	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220116737C>T	uc002vkt.1	-	2	277	c.219G>A	c.(217-219)ACG>ACA	p.T73T	TUBA4A_uc010zkz.1_Silent_p.T58T|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	73					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCAATGACCGTAGGCTCCA	0.527		NA											9	29					0	0	0	0
INHA	3623	broad.mit.edu	37	2	220439871	220439871	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220439871T>A	uc002vmk.1	+	2	868	c.724T>A	c.(724-726)TCT>ACT	p.S242T		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	242					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGGCCTTGGTCTCCCTCTGC	0.657		NA											9	38					0	0	0	0
CHRNG	1146	broad.mit.edu	37	2	233406237	233406237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:233406237C>A	uc002vsx.1	+	5	525	c.504C>A	c.(502-504)TTC>TTA	p.F168L	CHRNG_uc010fyd.2_Missense_Mutation_p.F168L|CHRNG_uc010fye.1_Intron	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	168	Extracellular (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCTTATCTTCCAGTGAGGCC	0.582		NA											35	102					6.06e-23	1.1e-22	1	0
TRIB3	57761	broad.mit.edu	37	20	368670	368670	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:368670C>T	uc002wdm.2	+	2	522	c.16C>T	c.(16-18)CTG>TTG	p.L6L	TRIB3_uc002wdn.2_Silent_p.L33L	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	6					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AGCCACCCCTCTGGCTGCTCC	0.498		NA											19	76					0	0	0	0
SNPH	9751	broad.mit.edu	37	20	1285638	1285638	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:1285638T>A	uc002wes.2	+	6	661	c.425T>A	c.(424-426)ATC>AAC	p.I142N	SNPH_uc002wet.2_Missense_Mutation_p.I186N	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	142	Potential.				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						CGAAAGGAGATCAAGCAGCTC	0.562		NA											34	94					0	0	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3146664	3146664	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:3146664A>C	uc002wia.1	-	2	2200	c.802T>G	c.(802-804)TCG>GCG	p.S268A	ProSAPiP1_uc002wib.1_Missense_Mutation_p.S268A	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	268						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						TGGTAGCCCGACCCCCCACCG	0.662		NA											7	45					0	0	0	0
CDS2	8760	broad.mit.edu	37	20	5169722	5169722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:5169722C>T	uc002wls.2	+	11	1248	c.991C>T	c.(991-993)CGG>TGG	p.R331W	CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.S282S|CDS2_uc010zqu.1_Missense_Mutation_p.R211W|CDS2_uc002wlv.2_Missense_Mutation_p.R233W|CDS2_uc010zqv.1_Missense_Mutation_p.R101W	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	331					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						GAAAACGGTCCGGATGTACCC	0.383		NA											29	109					0	0	0	0
PLCB1	23236	broad.mit.edu	37	20	8608996	8608996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:8608996G>A	uc002wnb.2	+	4	305	c.302G>A	c.(301-303)CGC>CAC	p.R101H	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.R101H|PLCB1_uc002wmz.1_Missense_Mutation_p.R101H|PLCB1_uc002wna.2_Missense_Mutation_p.R101H|PLCB1_uc002wnc.1_5'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	101					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CTGGAGCAGCGCATGATCACA	0.453		NA											31	75					0	0	0	0
FLRT3	23767	broad.mit.edu	37	20	14307545	14307545	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:14307545C>T	uc002wov.1	-	3	1075	c.608G>A	c.(607-609)CGC>CAC	p.R203H	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R203H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	203	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGAACCAGGCGTTTTAGACT	0.438		NA											33	64					0	0	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797434	34797434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:34797434G>A	uc002xfb.2	+	15	1864	c.1693G>A	c.(1693-1695)GAG>AAG	p.E565K	EPB41L1_uc002xeu.2_Missense_Mutation_p.E491K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E565K|EPB41L1_uc002xev.2_Missense_Mutation_p.E565K|EPB41L1_uc002xew.2_Missense_Mutation_p.E456K|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.E491K|EPB41L1_uc010gfq.2_Missense_Mutation_p.E664K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	565					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GGAGGGCTCCGAGGAGAAAGT	0.552		NA											6	32					0	0	0	0
TPST2	8459	broad.mit.edu	37	22	26937214	26937214	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:26937214A>C	uc003acv.2	-	2	551	c.383T>G	c.(382-384)GTG>GGG	p.V128G	TPST2_uc003acw.2_Missense_Mutation_p.V128G|TPST2_uc003acx.2_Missense_Mutation_p.V128G|TPST2_uc011akf.1_Missense_Mutation_p.V128G	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	128	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						CTCATCCGTCACCCCCGCCTC	0.672		NA											10	10					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41489079	41489079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:41489079C>A	uc003azl.3	+	1	466	c.71C>A	c.(70-72)TCG>TAG	p.S24*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	24	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCGGCCCTCTCGGCGTCCGCC	0.542		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				19	105					1.68e-08	2.93e-08	1	0
SHANK3	85358	broad.mit.edu	37	22	51143288	51143288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:51143288G>A	uc003bne.1	+	16	1942	c.1942G>A	c.(1942-1944)GAG>AAG	p.E648K	SHANK3_uc003bnf.1_Missense_Mutation_p.E103K	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	648										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTTCCTCATCGAGGTGAGGTC	0.692		NA											9	47					0	0	0	0
ATP2B2	491	broad.mit.edu	37	3	10417306	10417306	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:10417306C>T	uc003bvt.2	-	11	1663	c.1224G>A	c.(1222-1224)ACG>ACA	p.T408T	ATP2B2_uc003bvv.2_Silent_p.T363T|ATP2B2_uc003bvw.2_Silent_p.T363T|ATP2B2_uc010hdo.2_Silent_p.T113T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	408	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGATGATCACCGTGATGGCTG	0.557		NA											14	11					0	0	0	0
ZNF621	285268	broad.mit.edu	37	3	40573572	40573572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:40573572C>G	uc003ckm.2	+	5	527	c.311C>G	c.(310-312)TCT>TGT	p.S104C	ZNF621_uc003ckn.2_Missense_Mutation_p.S104C|ZNF621_uc003cko.2_Missense_Mutation_p.S69C|ZNF621_uc011aze.1_Missense_Mutation_p.S96C	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CAGGAAGCCTCTGAAGAAACA	0.423		NA											18	38					0	0	0	0
ALG1L2	644974	broad.mit.edu	37	3	129813348	129813348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:129813348C>T	uc011bld.1	+	5	602	c.416C>T	c.(415-417)CCG>CTG	p.P139L	ALG1L2_uc010hth.2_Intron	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN	asparagine-linked glycosylation 1-like 2	139					biosynthetic process		transferase activity, transferring glycosyl groups				0						GGACTACCCCCGCTTCTAGGT	0.617		NA											6	20					0	0	0	0
ABCC5	10057	broad.mit.edu	37	3	183681281	183681281	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:183681281G>A	uc003fmg.2	-	15	2292	c.2127C>T	c.(2125-2127)GAC>GAT	p.D709D	ABCC5_uc011bqt.1_Silent_p.D237D|ABCC5_uc010hxl.2_Silent_p.D709D	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	709	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGGGGTCGTCCAGGATGT	0.547		NA											21	119					0	0	0	0
KIAA1530	57654	broad.mit.edu	37	4	1379683	1379683	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:1379683C>T	uc003gde.3	+	14	2511	c.2064C>T	c.(2062-2064)GCC>GCT	p.A688A	KIAA1530_uc010ibv.2_Silent_p.A239A	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	688											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			TAGTGGCAGCCATGAACCGGA	0.592		NA											45	42					0	0	0	0
MFSD10	10227	broad.mit.edu	37	4	2932838	2932838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:2932838C>T	uc003gfw.2	-	11	1516	c.1202G>A	c.(1201-1203)CGC>CAC	p.R401H	MFSD10_uc003gfv.2_Missense_Mutation_p.R91H|MFSD10_uc003gfx.2_Missense_Mutation_p.R225H|MFSD10_uc003gfz.2_Missense_Mutation_p.R401H|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.A365T|MFSD10_uc003ggb.1_Missense_Mutation_p.R401H|MFSD10_uc003ggc.2_Missense_Mutation_p.A355T	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	401					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACCTAGGCTGCGCAGTGTACC	0.706		NA											5	5					0	0	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005444	118005444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:118005444G>A	uc003ibv.3	-	1	1293	c.1106C>T	c.(1105-1107)TCA>TTA	p.S369L		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	369	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						CAAAGATTATGAAGATTTCTC	0.378		NA											48	62					0	0	0	0
KLKB1	3818	broad.mit.edu	37	4	187175918	187175918	+	Splice_Site	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187175918G>A	uc003iyy.2	+	12	1560	c.1489_splice	c.e12+1	p.E497_splice	KLKB1_uc011clc.1_Splice_Site_p.E295_splice|KLKB1_uc011cld.1_Splice_Site_p.E459_splice	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor						blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTACACTGGTATGTAGCAT	0.383		NA											8	16					0	0	0	0
F11	2160	broad.mit.edu	37	4	187201215	187201215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187201215A>T	uc003iza.1	+	8	1138	c.805A>T	c.(805-807)ATT>TTT	p.I269F		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	269	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAGTACACGCATTAAAAAGAG	0.398		NA											14	41					0	0	0	0
MYO10	4651	broad.mit.edu	37	5	16682098	16682098	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:16682098C>T	uc003jft.3	-	31	4539	c.4071G>A	c.(4069-4071)ACG>ACA	p.T1357T	MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Silent_p.T236T|MYO10_uc011cnd.1_Silent_p.T714T|MYO10_uc011cne.1_Silent_p.T714T|MYO10_uc010itx.2_Silent_p.T979T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1357					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCCGGTTGGCCGTGATGATCA	0.582		NA											26	183					0	0	0	0
CDH6	1004	broad.mit.edu	37	5	31305351	31305351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:31305351G>T	uc003jhe.1	+	7	1396	c.1070G>T	c.(1069-1071)CGA>CTA	p.R357L	CDH6_uc003jhd.1_Missense_Mutation_p.R357L	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	357	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						GTTGAGCCACGATTTCTCTAC	0.468		NA											46	61					8.21e-20	1.49e-19	1	0
SRP19	6728	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:112227939T>C	uc011cvv.1	+	4	933	c.678T>C	c.(676-678)TCT>TCC	p.S226S	SRP19_uc011cvu.1_Silent_p.S211S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TCCCAACATCTAGTCCTACCC	0.453		NA											3	117					0	0	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140587	178140587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:178140587G>C	uc003mjj.2	-	5	490	c.292C>G	c.(292-294)CAA>GAA	p.Q98E		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	98					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTGTGTTTGCGTTGACTTT	0.368		NA											37	47					0	0	0	0
ZNF184	7738	broad.mit.edu	37	6	27420986	27420986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:27420986C>T	uc003njj.2	-	5	1163	c.352G>A	c.(352-354)GAA>AAA	p.E118K	ZNF184_uc010jqv.2_Missense_Mutation_p.E118K|ZNF184_uc003nji.2_Missense_Mutation_p.E118K	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCTCTTCTTCAGAAATGTCA	0.378		NA											43	43					0	0	0	0
MOG	4340	broad.mit.edu	37	6	29633938	29633938	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:29633938A>G	uc003nnf.2	+	3	624	c.446A>G	c.(445-447)TAC>TGC	p.Y149C	MOG_uc003nmy.1_Missense_Mutation_p.Y149C|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.Y79C|MOG_uc003nna.2_Missense_Mutation_p.Y33C|MOG_uc011dlu.1_Missense_Mutation_p.Y33C|MOG_uc011dlv.1_Missense_Mutation_p.Y33C|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.Y149C|MOG_uc003nng.2_Missense_Mutation_p.Y149C|MOG_uc003nnh.2_Missense_Mutation_p.Y149C|MOG_uc003nni.2_Missense_Mutation_p.Y149C|MOG_uc003nnj.2_Missense_Mutation_p.Y149C|MOG_uc003nnk.2_Missense_Mutation_p.Y149C	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	149	Extracellular (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)	1						gatcctttctactgggTGAGC	0.303		NA											52	57					0	0	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410230	32410230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32410230C>T	uc003obh.2	+	2	169	c.88C>T	c.(88-90)CAT>TAT	p.H30Y	HLA-DRA_uc003obi.2_Missense_Mutation_p.H30Y	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	30	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						TTCAGAAGAACATGTGATCAT	0.433		NA							T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				51	161					0	0	0	0
TAP1	6890	broad.mit.edu	37	6	32816769	32816769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32816769C>T	uc003ocg.2	-	6	1710	c.1555G>A	c.(1555-1557)GAG>AAG	p.E519K	TAP1_uc011dqi.1_Missense_Mutation_p.E258K	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	519	Involved in peptide-binding site.|Helical; Name=10; (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						GACCTCACCTCCACAGCCTGG	0.532		NA											12	29					0	0	0	0
C6orf72	116254	broad.mit.edu	37	6	149893688	149893688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:149893688G>C	uc003qmq.1	+	3	253	c.226G>C	c.(226-228)GAC>CAC	p.D76H	C6orf72_uc010kie.1_Intron	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	76	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		GTATGTAAATGACTTACCTGT	0.308		NA											15	39					0	0	0	0
RSPH3	83861	broad.mit.edu	37	6	159401883	159401883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:159401883C>T	uc003qrx.2	-	6	1398	c.1208G>A	c.(1207-1209)CGT>CAT	p.R403H	RSPH3_uc010kju.2_Missense_Mutation_p.R307H	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	403										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGCCAGGTAACGCTGTGCAAA	0.463		NA											12	40					0	0	0	0
ANLN	54443	broad.mit.edu	37	7	36459871	36459871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:36459871C>T	uc003tff.2	+	11	2167	c.1963C>T	c.(1963-1965)CGA>TGA	p.R655*	ANLN_uc011kaz.1_Nonsense_Mutation_p.R567*|ANLN_uc003tfg.2_Nonsense_Mutation_p.R618*|ANLN_uc010kxe.2_Nonsense_Mutation_p.R617*	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	655	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						TCGTGTCCCTCGAGCTGAATC	0.443		NA											20	156					0	0	0	0
SFRP4	6424	broad.mit.edu	37	7	37956018	37956018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:37956018C>A	uc003tfo.3	-	1	508	c.122G>T	c.(121-123)CGG>CTG	p.R41L		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	41	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						GTTGGGCATCCGCGTGATGTT	0.692		NA											5	147					0.000602214	0.0010179	1	0
AEBP1	165	broad.mit.edu	37	7	44153489	44153489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44153489C>T	uc003tkb.2	+	21	3411	c.3106C>T	c.(3106-3108)CGG>TGG	p.R1036W	AEBP1_uc003tkc.3_Missense_Mutation_p.R611W|AEBP1_uc003tkd.2_Missense_Mutation_p.R286W	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1036	Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GATGCGGCTGCGGCGCCTCAA	0.692		NA											12	38					0	0	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44797689	44797689	+	Silent	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44797689C>G	uc003tlr.2	+	6	918	c.795C>G	c.(793-795)GTC>GTG	p.V265V	ZMIZ2_uc003tlq.2_Silent_p.V233V|ZMIZ2_uc003tls.2_Silent_p.V265V|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	265	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						GACAGGGGGTCAAGAGAACCT	0.607		NA											14	72					0	0	0	0
ZNF735	730291	broad.mit.edu	37	7	63680527	63680527	+	Silent	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:63680527A>G	uc011kdn.1	+	4	1098	c.1098A>G	c.(1096-1098)TCA>TCG	p.S366S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	366	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGCTCCTCAACTGTAAAGG	0.383		NA											4	43					0	0	0	0
AUTS2	26053	broad.mit.edu	37	7	70255917	70255917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:70255917C>G	uc003tvw.3	+	19	4458	c.3715C>G	c.(3715-3717)CCT>GCT	p.P1239A	AUTS2_uc003tvx.3_Missense_Mutation_p.P1215A|AUTS2_uc011keg.1_Missense_Mutation_p.P691A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1239										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGGACGACTCCTCTGTCCGC	0.627		NA											13	36					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:100677537C>G	uc003uxp.1	+	3	2893	c.2840C>G	c.(2839-2841)ACT>AGT	p.T947S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	947	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507		NA											177	412					0	0	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117501264	117501264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:117501264C>T	uc003vjf.2	-	2	280	c.188G>A	c.(187-189)CGG>CAG	p.R63Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	63										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGTCCTTACCCGCAGGGCCTC	0.483		NA											7	25					0	0	0	0
KCND2	3751	broad.mit.edu	37	7	120386013	120386013	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:120386013T>C	uc003vjj.1	+	5	2612	c.1647T>C	c.(1645-1647)CAT>CAC	p.H549H		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	549	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					CAGGAAGCCATCAAGGTAGTA	0.448		NA											15	104					0	0	0	0
FEZF1	389549	broad.mit.edu	37	7	121944307	121944307	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:121944307T>C	uc003vkd.2	-	1	259	c.185A>G	c.(184-186)AAG>AGG	p.K62R	FEZF1_uc003vkc.2_Missense_Mutation_p.K62R|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	62					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						CAGAGAGTGCTTGGGTTCCCC	0.627		NA											23	107					0	0	0	0
PRSS1	5644	broad.mit.edu	37	7	142459768	142459768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:142459768C>G	uc003wak.2	+	3	361	c.344C>G	c.(343-345)TCA>TGA	p.S115*	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Nonsense_Mutation_p.S55*	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	115	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AAGCTCTCCTCACGTGCAGTA	0.562		NA							Hereditary_Pancreatitis				28	149					0	0	0	0
LYN	4067	broad.mit.edu	37	8	56912010	56912010	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:56912010A>G	uc003xsk.3	+	12	1520	c.1238A>G	c.(1237-1239)GAA>GGA	p.E413G	LYN_uc003xsl.3_Missense_Mutation_p.E392G	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	413	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ACGGCTCCAGAAGCAATCAAC	0.393		NA											11	88					0	0	0	0
CDH17	1015	broad.mit.edu	37	8	95182707	95182707	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:95182707T>C	uc003ygh.2	-	9	1109	c.984A>G	c.(982-984)GTA>GTG	p.V328V	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V328V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	328	Extracellular (Potential).|Cadherin 3.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTAACTTTTACATGAATTT	0.398		NA											22	94					0	0	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936942	119936942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:119936942C>T	uc003yon.3	-	5	1200	c.877G>A	c.(877-879)GAG>AAG	p.E293K		NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	293	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGAAGCTGCTCGAAGGTGAGG	0.448		NA											16	111					0	0	0	0
HAS2	3037	broad.mit.edu	37	8	122626402	122626402	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:122626402T>C	uc003yph.2	-	4	2144	c.1606A>G	c.(1606-1608)AAG>GAG	p.K536E		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	536	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGCCACACTTATTGATGAGA	0.423		NA											62	100					0	0	0	0
C8orf76	84933	broad.mit.edu	37	8	124250097	124250097	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124250097C>T	uc003yqc.1	-	3	329	c.298G>A	c.(298-300)GCT>ACT	p.A100T	C8orf76_uc003yqd.2_Missense_Mutation_p.A68T	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	100							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACACCGAGCCTGACCTTCC	0.428		NA											40	36					0	0	0	0
ATAD2	29028	broad.mit.edu	37	8	124348766	124348766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124348766C>G	uc003yqh.3	-	22	3166	c.3058G>C	c.(3058-3060)GAT>CAT	p.D1020H	ATAD2_uc011lii.1_Missense_Mutation_p.D811H|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328		NA											16	158					0	0	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770919	145770919	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:145770919C>T	uc003zdt.1	-	7	2790	c.2235G>A	c.(2233-2235)GAG>GAA	p.E745E	ARHGAP39_uc011llk.1_Silent_p.E745E|ARHGAP39_uc003zds.1_Silent_p.E745E	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GCTTGAAGAGCTCGCAGGCCT	0.632		NA											31	51					0	0	0	0
FBXO10	26267	broad.mit.edu	37	9	37521758	37521758	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:37521758G>A	uc004aab.2	-	8	2057	c.2008C>T	c.(2008-2010)CTG>TTG	p.L670L	FBXO10_uc004aac.2_Silent_p.L686L|FBXO10_uc004aad.2_Silent_p.L220L	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	670	PbH1 12.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		ACTCCATACAGGCCATTGTAG	0.572		NA											13	18					0	0	0	0
ASTN2	23245	broad.mit.edu	37	9	120176823	120176823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:120176823C>T	uc004bjs.1	-	1	495	c.394G>A	c.(394-396)GCG>ACG	p.A132T	ASTN2_uc004bjr.1_Missense_Mutation_p.A132T|ASTN2_uc004bjt.1_Missense_Mutation_p.A132T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	132	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCCTGCACCGCGATGCGCCCC	0.716		NA											13	35					0	0	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595076	129595076	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:129595076C>T	uc004bql.2	+	3	561	c.288C>T	c.(286-288)CCC>CCT	p.P96P	ZBTB43_uc010mxf.2_Silent_p.P96P	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	96	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGTAATGCCCGCTCCAGAAA	0.443		NA											18	44					0	0	0	0
SETX	23064	broad.mit.edu	37	9	135221775	135221775	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:135221775T>A	uc004cbk.2	-	4	444	c.261A>T	c.(259-261)TTA>TTT	p.L87F		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	87					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTACTATATATAACTCATCAT	0.338		NA											8	23					0	0	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912862	77912862	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:77912862C>G	uc004edc.1	-	2	1352	c.1056G>C	c.(1054-1056)TGG>TGC	p.W352C		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	352							nucleic acid binding|zinc ion binding			ovary(1)	1						TGCTTTCATCCCAGTTCAGCT	0.478		NA											18	40					0	0	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795518	142795518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:142795518C>A	uc004fbz.2	-	2	914	c.160G>T	c.(160-162)GTG>TTG	p.V54L		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	54										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTAATACACTATTATTGTT	0.433		NA											52	88					1.19e-25	2.18e-25	1	0
MLL2	8085	broad.mit.edu	37	12	49423208	49423208	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:49423208delG	uc001rta.3	-	43	14051	c.14051delC	c.(14050-14052)CCTfs	p.P4684fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4684					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGATTGTGAGGGGGTGTAGG	0.562		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			2	4	---	---	---	---	NA	NA	NA	NA
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:66531936_66531937insA	uc001stc.2	-	7	596_597	c.520_521insT	c.(520-522)TATfs	p.Y174fs	LLPH_uc010ssx.1_Intron|TMBIM4_uc001std.2_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc009zqr.2_Frame_Shift_Ins_p.Y221fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.2_Frame_Shift_Ins_p.F158fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351		NA											14	18	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7577120	7577137	+	In_Frame_Del	DEL	CGCACCTCAAAGCTGTTC	CGCACCTCAAAGCTGTTC	-	rs28934576	by1000genomes	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC	uc002gim.2	-	8	995_1012	c.801_818delGAACAGCTTTGAGGTGCG	c.(799-819)CGGAACAGCTTTGAGGTGCGT>CGT	p.267_273RNSFEVR>R	TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc010cng.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc002gii.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc010cnh.1_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc010cni.1_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc002gij.2_In_Frame_Del_p.267_273RNSFEVR>R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	267_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(396)|p.R273L(83)|p.V272M(67)|p.R273P(24)|p.V272L(24)|p.F270L(22)|p.E271K(22)|p.R267W(20)|p.F270C(15)|p.E271*(14)|p.R267P(13)|p.R273S(11)|p.R273G(9)|p.F270V(8)|p.V272E(8)|p.F270S(7)|p.R267Q(7)|p.V272A(7)|p.0?(7)|p.E271V(5)|p.R267R(5)|p.F270Y(5)|p.S269C(4)|p.S269N(4)|p.V272G(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.F270I(3)|p.S269G(3)|p.E271Q(3)|p.S269S(3)|p.V272V(3)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.R273fs*33(2)|p.G266_E271delGRNSFE(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.R267L(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.R267G(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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)		GGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTA	0.537	R273C(SH10TC_STOMACH)|R273H(NCIH1793_LUNG)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273H(NCIH1975_LUNG)|R273C(SW1710_URINARY_TRACT)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RH30_SOFT_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273C(MFE319_ENDOMETRIUM)|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)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273H(HT29_LARGE_INTESTINE)|R273C(SJRH30_SOFT_TISSUE)|R273C(EFO27_OVARY)	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)			7	33	---	---	---	---	NA	NA	NA	NA
VAT1	10493	broad.mit.edu	37	17	41174211	41174213	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:41174211_41174213delGGC	uc002icm.1	-	1	247_249	c.127_129delGCC	c.(127-129)GCCdel	p.A43del	VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_In_Frame_Del_p.A43del	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	43						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		gtggcggcgaggcggcggcggcg	0.453		NA											2	4	---	---	---	---	NA	NA	NA	NA
ERN1	2081	broad.mit.edu	37	17	62207374	62207376	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:62207374_62207376delGCC	uc002jdz.2	-	1	127_129	c.14_16delGGC	c.(13-18)CGGCTG>CTG	p.R5del		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	5					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						agcagcagcagcCGCCGGGCCGG	0.685		NA											2	4	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21971132	21971133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:21971132_21971133insG	uc003zpk.2	-	2	437_438	c.225_226insC	c.(223-228)CCCGCCfs	p.P75fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Ins_p.R131fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	75_76					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.P75L(2)|p.A76fs*70(2)|p.P75H(1)|p.E61_L94del(1)|p.A76fs*64(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.P75fs*71(1)|p.A76T(1)|p.P75S(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)		GTGAGAGTGGCGGGGTCGGCGC	0.708		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)			13	20	---	---	---	---	NA	NA	NA	NA
FRMD7	90167	broad.mit.edu	37	X	131212552	131212553	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:131212552_131212553insA	uc004ewn.2	-	12	1670_1671	c.1492_1493insT	c.(1492-1494)TATfs	p.Y498fs	FRMD7_uc011muy.1_Frame_Shift_Ins_p.Y483fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CTTGTCCACATAAAAAAAGACC	0.5		NA											32	148	---	---	---	---	NA	NA	NA	NA
