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
CELA3B	23436	broad.mit.edu	37	1	22313089	22313089	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:22313089C>G	uc001bfk.2	+	7	823	c.708C>G	c.(706-708)ACC>ACG	p.T236T	CELA3B_uc009vqf.2_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	236	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						ATGGCGTGACCAGCTTTGTTT	0.607		NA											11	30					0	0	0	0
LUZP1	7798	broad.mit.edu	37	1	23419483	23419483	+	Silent	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:23419483G>T	uc001bgk.2	-	4	1656	c.1272C>A	c.(1270-1272)CCC>CCA	p.P424P	LUZP1_uc010odv.1_Silent_p.P424P|LUZP1_uc001bgl.2_Silent_p.P424P|LUZP1_uc001bgm.1_Silent_p.P424P	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	424						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGTGAAACTGGGAGAAGAAA	0.507		NA											6	177					0.00198382	0.00967502	1	0
IGSF3	3321	broad.mit.edu	37	1	117131576	117131576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:117131576C>G	uc001egr.1	-	8	2885	c.2180G>C	c.(2179-2181)GGC>GCC	p.G727A	IGSF3_uc001egq.1_Missense_Mutation_p.G747A|IGSF3_uc001egs.1_Missense_Mutation_p.G400A	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	727	Ig-like C2-type 6.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GATAAGCTTGCCATCGGCATC	0.547		NA											29	98					0	0	0	0
BCL9	607	broad.mit.edu	37	1	147092754	147092754	+	Silent	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:147092754T>A	uc001epq.2	+	8	3533	c.2793T>A	c.(2791-2793)CCT>CCA	p.P931P	BCL9_uc010ozr.1_Silent_p.P857P	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	931	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCCCGTCACCTGGATGGACCT	0.582		NA	T	IGH@|IGL@	B-ALL								17	114					0	0	0	0
NBPF15	284565	broad.mit.edu	37	1	148594624	148594624	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:148594624T>C	uc001esc.2	+	19	2486	c.1997T>C	c.(1996-1998)GTC>GCC	p.V666A		NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	666	NBPF 6.					cytoplasm					0	all_hematologic(923;0.032)					CAGATGGGAGTCATATTCCCA	0.448		NA											3	132					0	0	0	0
BCAN	63827	broad.mit.edu	37	1	156616600	156616600	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156616600C>T	uc001fpp.2	+	3	435	c.99C>T	c.(97-99)CGC>CGT	p.R33R	BCAN_uc001fpo.2_Silent_p.R33R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	33					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGACCGCGCTTTTCGCG	0.697		NA											5	20					0	0	0	0
NES	10763	broad.mit.edu	37	1	156640375	156640375	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156640375G>A	uc001fpq.2	-	4	3738	c.3605C>T	c.(3604-3606)CCT>CTT	p.P1202L		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1202	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGCCAAGGTGAAGGGGC	0.647		NA											5	104					0	0	0	0
FCRL1	115350	broad.mit.edu	37	1	157776893	157776893	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:157776893G>A	uc001frg.2	-	2	164	c.51C>T	c.(49-51)GCC>GCT	p.A17A	FCRL1_uc001frh.2_Silent_p.A17A|FCRL1_uc001fri.2_Silent_p.A17A|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	17	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAACTCACCGGCAGGTTCAC	0.483		NA											15	73					0	0	0	0
CD1C	911	broad.mit.edu	37	1	158262428	158262428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:158262428C>T	uc001fru.2	+	4	945	c.653C>T	c.(652-654)TCT>TTT	p.S218F	CD1C_uc001frv.2_Missense_Mutation_p.S21F	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	218	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					AGCCTTGGGTCTGGCCAGCTG	0.522		NA											6	66					0	0	0	0
OR10J1	26476	broad.mit.edu	37	1	159409809	159409809	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:159409809C>T	uc010piv.1	+	1	261	c.261C>T	c.(259-261)GTC>GTT	p.V87V	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	87	Extracellular (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					ATACATTGGTCATTCTCCCAA	0.458		NA											7	77					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197390386	197390386	+	Silent	SNP	C	C	T	rs62636282	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:197390386C>T	uc001gtz.2	+	6	1563	c.1428C>T	c.(1426-1428)ACC>ACT	p.T476T	CRB1_uc010poz.1_Silent_p.T407T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.T364T|CRB1_uc010ppb.1_Silent_p.T476T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.T125T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	476	Extracellular (Potential).|EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						CTGGCTACACCGGGTCCCTGT	0.502		NA											12	57					0	0	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213436131	213436131	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:213436131C>G	uc010ptr.1	+	14	3221	c.3062C>G	c.(3061-3063)TCT>TGT	p.S1021C	RPS6KC1_uc001hkd.2_Missense_Mutation_p.S1009C|RPS6KC1_uc010pts.1_Missense_Mutation_p.S809C|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S809C|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S840C|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S556C|RPS6KC1_uc001hke.2_Missense_Mutation_p.S840C	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	1021	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAATGTGTCTCTGAAGAGGCT	0.428		NA											22	42					0	0	0	0
TRIM58	25893	broad.mit.edu	37	1	248028119	248028119	+	Missense_Mutation	SNP	C	C	A	rs138082117	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:248028119C>A	uc001ido.2	+	3	677	c.629C>A	c.(628-630)GCG>GAG	p.A210E		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	210	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAGCGAGCGACGCTGCAG	0.652		NA											14	35					9.31e-06	4.86e-05	1	0
MYO3A	53904	broad.mit.edu	37	10	26462739	26462739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:26462739C>G	uc001isn.2	+	30	3906	c.3546C>G	c.(3544-3546)AAC>AAG	p.N1182K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1182					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TGGAGAGTAACAACAGAGTGT	0.388		NA											8	42					0	0	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70951445	70951445	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:70951445G>T	uc001jpe.1	+	6	831	c.776G>T	c.(775-777)CGT>CTT	p.R259L	SUPV3L1_uc010qjd.1_Missense_Mutation_p.R128L	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	259	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						GGTGAAGAGCGTGTGACAGTT	0.368		NA											12	49					2.32e-05	0.000120195	1	0
SH2D4B	387694	broad.mit.edu	37	10	82329963	82329963	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:82329963G>T	uc001kck.1	+	2	668	c.238G>T	c.(238-240)GTC>TTC	p.V80F	SH2D4B_uc001kcl.1_Missense_Mutation_p.V31F	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	79											0			Colorectal(32;0.229)			CGAGGTCTGGGTCTGGATCAT	0.532		NA											31	45					2.85e-18	1.63e-17	1	0
PLEKHA1	59338	broad.mit.edu	37	10	124189449	124189449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:124189449G>A	uc001lge.1	+	12	1333	c.1210G>A	c.(1210-1212)GTG>ATG	p.V404M	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.V404M	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	404					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCAGTGACGTGTGAGGCAG	0.498		NA											9	38					0	0	0	0
MKI67	4288	broad.mit.edu	37	10	129903164	129903164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:129903164C>G	uc001lke.2	-	13	7135	c.6940G>C	c.(6940-6942)GAA>CAA	p.E2314Q	MKI67_uc001lkf.2_Missense_Mutation_p.E1954Q|MKI67_uc009yav.1_Missense_Mutation_p.E1889Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1464Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2314	16 X 122 AA approximate repeats.|11.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAGGTCTTCTAGAGCCTGG	0.493		NA											63	269					0	0	0	0
OR52N4	390072	broad.mit.edu	37	11	5776833	5776833	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:5776833C>A	uc001mbu.2	+	1	911	c.863C>A	c.(862-864)CCC>CAC	p.P288H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCCTACCACCCACTATGAAC	0.448		NA											41	31					6.24e-21	3.58e-20	1	0
HPX	3263	broad.mit.edu	37	11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:6452915G>A	uc001mdg.2	-	9	1146	c.1085C>T	c.(1084-1086)GCG>GTG	p.A362V	HPX_uc001mdf.2_Missense_Mutation_p.A108V|HPX_uc009yfc.2_RNA	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557		NA											38	24					0	0	0	0
SYT9	143425	broad.mit.edu	37	11	7324589	7324589	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:7324589G>A	uc001mfe.2	+	2	702	c.465G>A	c.(463-465)CAG>CAA	p.Q155Q	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	155	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCGCGTGCAGCGCCAAGTCA	0.597		NA											12	15					0	0	0	0
MUC15	143662	broad.mit.edu	37	11	26587444	26587444	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:26587444C>T	uc001mqx.2	-	2	229	c.-37_splice	c.e2-1		ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Splice_Site_p.Y15_splice|MUC15_uc001mqy.2_Splice_Site_p.Y15_splice	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b							extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTAAAGGAATCTGAAAGAAAA	0.274		NA											9	32					0	0	0	0
KCNA4	3739	broad.mit.edu	37	11	30033487	30033487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:30033487C>A	uc001msk.2	-	2	1891	c.739G>T	c.(739-741)GTC>TTC	p.V247F		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	247						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAAAGGGGACATTGACTGGC	0.498		NA											6	118					5.18e-06	2.71e-05	1	0
OR4A15	81328	broad.mit.edu	37	11	55135451	55135451	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55135451T>C	uc010rif.1	+	1	92	c.92T>C	c.(91-93)ATG>ACG	p.M31T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	31	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M31I(1)		ovary(1)|skin(1)	2						GAAGAACACATGAAAAATAAG	0.383		NA											8	47					0	0	0	0
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55703122A>G	uc010ris.1	-	1	755	c.755T>C	c.(754-756)ATC>ACC	p.I252T		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCTTGGTAGATCGTCACTGA	0.428		NA											5	17					0	0	0	0
LPXN	9404	broad.mit.edu	37	11	58322350	58322350	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:58322350A>G	uc001nmw.2	-	4	427	c.282T>C	c.(280-282)GAT>GAC	p.D94D	LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Silent_p.D99D|LPXN_uc010rkk.1_Silent_p.D74D	NM_004811	NP_004802	O60711	LPXN_HUMAN	leupaxin isoform 2	94	LD motif 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGAGCTCATCCAACTGAG	0.502		NA											11	88					0	0	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265032	67265032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:67265032C>T	uc001olx.2	-	12	2090	c.1901G>A	c.(1900-1902)AGC>AAC	p.S634N	PITPNM1_uc001olw.2_5'UTR|PITPNM1_uc001oly.2_Missense_Mutation_p.S634N|PITPNM1_uc001olz.2_Missense_Mutation_p.S634N	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	634					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GGCCATGTCGCTGGGGATGCG	0.672		NA											11	118					0	0	0	0
SERPINH1	871	broad.mit.edu	37	11	75280100	75280100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:75280100C>T	uc001owr.2	+	4	1067	c.838C>T	c.(838-840)CGC>TGC	p.R280C	SERPINH1_uc009yuf.2_Missense_Mutation_p.R280C|SERPINH1_uc009yug.2_Missense_Mutation_p.R280C|SERPINH1_uc001ows.2_Missense_Mutation_p.R280C|SERPINH1_uc001owt.2_Missense_Mutation_p.R63C	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	280					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					GCCTCTCGAGCGCCTTGAAAA	0.562		NA											27	33					0	0	0	0
KIAA1826	84437	broad.mit.edu	37	11	105880416	105880416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:105880416G>A	uc001piy.2	-	3	1057	c.884C>T	c.(883-885)ACA>ATA	p.T295I	KIAA1826_uc001piz.2_Missense_Mutation_p.T295I	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	295	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TAACTTCTCTGTTTCTATGTC	0.408		NA											12	134					0	0	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746387	111746387	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:111746387C>A	uc001pmc.3	-	5	1431	c.1134G>T	c.(1132-1134)CAG>CAT	p.Q378H	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Q229H	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	378					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						TGTGGCACTTCTGAAAGACAG	0.443		NA											13	213					0.00010058	0.000514889	1	0
AICDA	57379	broad.mit.edu	37	12	8757850	8757850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:8757850G>A	uc001qur.2	-	3	467	c.388C>T	c.(388-390)CAC>TAC	p.H130Y	AICDA_uc001qup.1_Missense_Mutation_p.H125Y|AICDA_uc001quq.1_Missense_Mutation_p.H125Y|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	130					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					CCGGCGCGGTGCAGCCGCCGC	0.647		NA							Immune_Deficiency_with_Hyper-IgM				22	23					0	0	0	0
ERBB3	2065	broad.mit.edu	37	12	56478837	56478837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:56478837C>G	uc001sjh.2	+	3	486	c.293C>G	c.(292-294)CCA>CGA	p.P98R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P39R|ERBB3_uc001sjg.2_Missense_Mutation_p.P98R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	98	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTACTCTACCATTGCCCAAC	0.507		NA											6	112					0	0	0	0
ANKS1B	56899	broad.mit.edu	37	12	100173680	100173680	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:100173680C>T	uc001tge.1	-	6	1233	c.816G>A	c.(814-816)CAG>CAA	p.Q272Q	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	272						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAGAGATTTCTGAGATGGAT	0.343		NA											31	64					0	0	0	0
NALCN	259232	broad.mit.edu	37	13	101726002	101726002	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr13:101726002T>A	uc001vox.1	-	37	4320	c.4131A>T	c.(4129-4131)AAA>AAT	p.K1377N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1377	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGTAATAGCTTTTCCAGCCG	0.353		NA											4	26					0	0	0	0
OR4K1	79544	broad.mit.edu	37	14	20404652	20404652	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:20404652C>G	uc001vwj.1	+	1	827	c.827C>G	c.(826-828)ACT>AGT	p.T276S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTTCTACACTGTTTGTACT	0.428		NA											10	332					0	0	0	0
LRP10	26020	broad.mit.edu	37	14	23346447	23346447	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:23346447T>C	uc001whd.2	+	7	2406	c.1853T>C	c.(1852-1854)ATC>ACC	p.I618T	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	618	Pro-rich.|Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCACTGCCCATCAAGGCTCCC	0.657		NA											7	156					0	0	0	0
NIN	51199	broad.mit.edu	37	14	51237120	51237120	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:51237120C>A	uc001wym.2	-	12	1611	c.1420G>T	c.(1420-1422)GCC>TCC	p.A474S	NIN_uc001wyi.2_Missense_Mutation_p.A474S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.A474S|NIN_uc010tqp.1_Missense_Mutation_p.A480S|NIN_uc001wyo.2_Missense_Mutation_p.A474S|NIN_uc001wyp.1_Missense_Mutation_p.A436S	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	474	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAGAGAGGGCAAGGCGGTCC	0.483		NA	T	PDGFRB	MPD								5	27					0.000602214	0.00299364	1	0
FUT8	2530	broad.mit.edu	37	14	66136078	66136078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:66136078C>T	uc001xin.2	+	7	1912	c.715C>T	c.(715-717)CGA>TGA	p.R239*	FUT8_uc001xio.2_Nonsense_Mutation_p.R239*|FUT8_uc010tsp.1_Nonsense_Mutation_p.R76*|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.R239*|FUT8_uc001xiq.2_Nonsense_Mutation_p.R110*|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	239	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGCACCCAGCGAACACTCAT	0.473		NA											21	68					0	0	0	0
C14orf68	283600	broad.mit.edu	37	14	100793680	100793680	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:100793680C>G	uc001yhc.2	+	4	373	c.300C>G	c.(298-300)CTC>CTG	p.L100L	C14orf68_uc001yhd.2_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	100	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				ACATCACGCTCTCGGGATGCG	0.662		NA											16	60					0	0	0	0
ACTC1	70	broad.mit.edu	37	15	35086901	35086901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:35086901C>T	uc001ziu.1	-	2	352	c.109G>A	c.(109-111)GTG>ATG	p.V37M	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	37					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGGCGGCCCACGATGGACGGG	0.687		NA											9	25					0	0	0	0
WDR72	256764	broad.mit.edu	37	15	53907901	53907901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:53907901C>G	uc002acj.2	-	15	2544	c.2502G>C	c.(2500-2502)TTG>TTC	p.L834F	WDR72_uc010bfi.1_Missense_Mutation_p.L834F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	834										lung(1)|skin(1)	2				all cancers(107;0.0511)		TATCTTCATTCAAAGAAATTC	0.343		NA											9	75					0	0	0	0
ADAM10	102	broad.mit.edu	37	15	58933155	58933155	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58933155T>C	uc002afd.1	-	8	1277	c.833A>G	c.(832-834)AAT>AGT	p.N278S	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	278	Peptidase M12B.|Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		AGCAGTTGTATTGATCTAAAA	0.373		NA											3	38					0	0	0	0
ADAM10	102	broad.mit.edu	37	15	58971446	58971446	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58971446C>G	uc002afd.1	-	4	805	c.361G>C	c.(361-363)GAT>CAT	p.D121H	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.D121H	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	121	Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		AATCTTCCATCAATAACAGAC	0.358		NA											4	42					0	0	0	0
FOXB1	27023	broad.mit.edu	37	15	60297874	60297874	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:60297874T>C	uc002agj.1	+	2	1191	c.712T>C	c.(712-714)TAC>CAC	p.Y238H	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	238					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			ovary(1)|central_nervous_system(1)	2						GAGTGGCGACTACAGCGCCTA	0.706		NA											9	11					0	0	0	0
IQCH	64799	broad.mit.edu	37	15	67687836	67687836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:67687836C>T	uc002aqo.1	+	13	1887	c.1840C>T	c.(1840-1842)CGT>TGT	p.R614C	IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	614										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		TGGAGGCAAACGTGTCTTTGA	0.448		NA											9	68					0	0	0	0
FAH	2184	broad.mit.edu	37	15	80467433	80467433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:80467433G>T	uc002bfj.2	+	11	995	c.913G>T	c.(913-915)GGA>TGA	p.G305*	FAH_uc002bfk.1_Nonsense_Mutation_p.G305*|FAH_uc002bfm.1_Nonsense_Mutation_p.G305*|FAH_uc002bfn.1_Nonsense_Mutation_p.G235*|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	305					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						TAACCTGAAAGGTATGTTGTA	0.562		NA							Tyrosinemia_type_1				7	101					0.00198382	0.00967502	1	0
RGS11	8786	broad.mit.edu	37	16	319529	319529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:319529G>A	uc002cgj.1	-	16	1265	c.1262C>T	c.(1261-1263)GCT>GTT	p.A421V	ITFG3_uc010uud.1_RNA|RGS11_uc002cgi.1_Missense_Mutation_p.A400V|RGS11_uc010bqs.1_Missense_Mutation_p.A410V|RGS11_uc002cgk.1_Missense_Mutation_p.A237V	NM_183337	NP_899180	O94810	RGS11_HUMAN	regulator of G-protein signalling 11 isoform 1	421					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			lung(1)|pancreas(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGATCCCAGCCTCTGCCAG	0.652		NA											16	15					0	0	0	0
IFT140	9742	broad.mit.edu	37	16	1561083	1561083	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:1561083C>T	uc002cmb.2	-	31	4613	c.4251G>A	c.(4249-4251)CCG>CCA	p.P1417P	IFT140_uc002clz.2_Silent_p.P1030P	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1417										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				CCACGGCCTGCGGGCTCACGT	0.662		NA											6	8					0	0	0	0
CIITA	4261	broad.mit.edu	37	16	10995979	10995979	+	Missense_Mutation	SNP	C	C	T	rs149076617		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:10995979C>T	uc002dai.3	+	7	699	c.566C>T	c.(565-567)GCG>GTG	p.A189V	CIITA_uc002daj.3_Missense_Mutation_p.A190V|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A189V|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.A189V	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	189					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CCACTGCCTGCGCTGTTCAAC	0.622		NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								8	78					0	0	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715663	15715663	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:15715663A>G	uc002ddr.2	-	12	2759	c.2566T>C	c.(2566-2568)TAC>CAC	p.Y856H	KIAA0430_uc002ddq.2_Missense_Mutation_p.Y690H|KIAA0430_uc010uzv.1_Missense_Mutation_p.Y852H|KIAA0430_uc010uzw.1_Missense_Mutation_p.Y855H	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	855	RRM.					peroxisome	nucleotide binding|RNA binding				0						CCAATTTTGTATCTGTGGAGG	0.458		NA											25	40					0	0	0	0
CDH11	1009	broad.mit.edu	37	16	65026844	65026844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:65026844G>A	uc002eoi.2	-	5	1051	c.617C>T	c.(616-618)CCC>CTC	p.P206L	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.P206L|CDH11_uc010vin.1_Missense_Mutation_p.P80L	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	206	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAAAAATAGGGTTGTCCTTC	0.438		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	52					0	0	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032990	82032990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:82032990C>A	uc002fgu.2	-	3	1036	c.908G>T	c.(907-909)CGA>CTA	p.R303L		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	303					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						GTTGTAGAGTCGACCCAAAAT	0.463		NA											23	21					4.4e-07	2.35e-06	1	0
CAMTA2	23125	broad.mit.edu	37	17	4883671	4883671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:4883671C>T	uc002gah.1	-	9	1054	c.946G>A	c.(946-948)GGG>AGG	p.G316R	CAMTA2_uc010cku.1_Missense_Mutation_p.G339R|CAMTA2_uc002gag.1_Missense_Mutation_p.G315R|CAMTA2_uc002gai.1_Missense_Mutation_p.G318R|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Missense_Mutation_p.G129R	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	316					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GAAGAACCCCCTCGAGAAGTG	0.592		NA									OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	15					0	0	0	0
JUP	3728	broad.mit.edu	37	17	39927914	39927914	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:39927914C>G	uc002hxq.2	-	2	470	c.193G>C	c.(193-195)GTG>CTG	p.V65L	JUP_uc010wfs.1_Missense_Mutation_p.V65L|JUP_uc002hxr.2_Missense_Mutation_p.V65L|JUP_uc002hxs.2_Missense_Mutation_p.V65L	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	65					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTGGGGGGCACCCCCTGGGTG	0.612		NA											17	37					0	0	0	0
KIAA1267	284058	broad.mit.edu	37	17	44110827	44110827	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:44110827C>T	uc002ikb.2	-	11	2752	c.2667_splice	c.e11-1	p.S889_splice	KIAA1267_uc002ikc.2_Splice_Site_p.S889_splice|KIAA1267_uc002ikd.2_Splice_Site_p.S889_splice|KIAA1267_uc010dav.2_Splice_Site_p.S888_splice|KIAA1267_uc010wkb.1_Splice_Site_p.S220_splice|KIAA1267_uc010wkc.1_Splice_Site_p.S157_splice	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058							MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CTCCCGCCAGCTGCAAAACCA	0.502		NA											11	24					0	0	0	0
P4HB	5034	broad.mit.edu	37	17	79804356	79804356	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:79804356C>T	uc002kbn.1	-	7	1202	c.1005G>A	c.(1003-1005)ACG>ACA	p.T335T	P4HB_uc002kbl.1_Silent_p.T12T|P4HB_uc002kbm.1_Silent_p.T12T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	335					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTCTGCCGTCAGCTCCT	0.632		NA											36	98					0	0	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249308	43249308	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr18:43249308A>C	uc010dnj.2	+	17	2395	c.2074A>C	c.(2074-2076)AAG>CAG	p.K692Q	SLC14A2_uc002lbe.2_Missense_Mutation_p.K692Q	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	692						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CATCTTCAGCAAGTGGGACCT	0.552		NA											8	132					0	0	0	0
GPX4	2879	broad.mit.edu	37	19	1105714	1105714	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:1105714G>C	uc010xgg.1	+	5	489	c.382G>C	c.(382-384)GAT>CAT	p.D128H	GPX4_uc010xgh.1_Missense_Mutation_p.D128H|GPX4_uc010xgi.1_Missense_Mutation_p.D165H	NM_002085	NP_002076	P36969	GPX4_HUMAN	glutathione peroxidase 4 isoform A precursor	128					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	CGTCAAATTCGATATGTTCAG	0.587		NA											5	13					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9045870	9045870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:9045870C>A	uc002mkp.2	-	5	35965	c.35761G>T	c.(35761-35763)GAA>TAA	p.E11921*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11923	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTGAGGTTTCTGTGTTCCAG	0.498		NA											50	92					1.07e-20	6.14e-20	1	0
ZNF20	7568	broad.mit.edu	37	19	12244792	12244792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:12244792C>T	uc002mtf.1	-	4	352	c.209G>A	c.(208-210)AGA>AAA	p.R70K	ZNF20_uc002mte.1_Missense_Mutation_p.R35K|ZNF20_uc002mtg.1_Missense_Mutation_p.R70K	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGTTTCTCTCTCATAAGACT	0.299		NA											19	54					0	0	0	0
CACNA1A	773	broad.mit.edu	37	19	13345741	13345741	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13345741A>G	uc010dze.2	-	34	5482	c.5246T>C	c.(5245-5247)CTC>CCC	p.L1749P	CACNA1A_uc010xnd.1_Missense_Mutation_p.L454P|CACNA1A_uc002mwx.3_Missense_Mutation_p.L454P|CACNA1A_uc010dzc.2_Missense_Mutation_p.L1274P|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1748P|CACNA1A_uc002mwv.3_Missense_Mutation_p.L265P	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1749	Extracellular (Potential).|IV.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCACCGGAAGAGAAGCATGAG	0.522		NA									OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	80					0	0	0	0
CACNA1A	773	broad.mit.edu	37	19	13414674	13414674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13414674C>T	uc010dze.2	-	16	2250	c.2014G>A	c.(2014-2016)GAG>AAG	p.E672K	CACNA1A_uc010dzc.2_Missense_Mutation_p.E197K|CACNA1A_uc002mwy.3_Missense_Mutation_p.E671K|CACNA1A_uc010xne.1_Missense_Mutation_p.E197K	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	672	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TACATGACCTCGTTCCAGTCT	0.577		NA											14	143					0	0	0	0
BRD4	23476	broad.mit.edu	37	19	15366308	15366308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:15366308C>T	uc002nar.2	-	10	2069	c.1847G>A	c.(1846-1848)CGG>CAG	p.R616Q	BRD4_uc002nas.2_Missense_Mutation_p.R616Q|BRD4_uc002nat.3_Missense_Mutation_p.R616Q	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	616					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGAGCTGCCGCTTCTCCTC	0.597		NA	T	NUT|C15orf55	lethal midline carcinoma of young people								26	95					0	0	0	0
NWD1	284434	broad.mit.edu	37	19	16860942	16860942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:16860942G>A	uc002neu.3	+	6	1911	c.1489G>A	c.(1489-1491)GGA>AGA	p.G497R	NWD1_uc002net.3_Missense_Mutation_p.G362R|NWD1_uc002nev.3_Missense_Mutation_p.G291R			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	497	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GCCCCTTTCCGGAAACCAAGG	0.632		NA											6	93					0	0	0	0
GMIP	51291	broad.mit.edu	37	19	19749068	19749068	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19749068C>T	uc002nnd.2	-	9	806	c.689G>A	c.(688-690)CGC>CAC	p.R230H	GMIP_uc010xrb.1_Missense_Mutation_p.R230H|GMIP_uc010xrc.1_Missense_Mutation_p.R230H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	230					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CCCCTGGGAGCGTGCCCGCAG	0.716		NA											13	16					0	0	0	0
ZNF14	7561	broad.mit.edu	37	19	19822424	19822424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19822424C>T	uc002nnk.1	-	4	1820	c.1666G>A	c.(1666-1668)GAG>AAG	p.E556K		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				TACGGTTTCTCTCCAGTGTGA	0.408		NA											5	105					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	39019040	39019040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:39019040C>T	uc002oit.2	+	74	11049	c.10919C>T	c.(10918-10920)CCC>CTC	p.P3640L	RYR1_uc002oiu.2_Missense_Mutation_p.P3635L|RYR1_uc002oiv.1_Missense_Mutation_p.P555L|RYR1_uc010xuf.1_Missense_Mutation_p.P560L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3640					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGTATGACGCCCCTGTACAAC	0.612		NA											7	60					0	0	0	0
ADCK4	79934	broad.mit.edu	37	19	41209448	41209448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:41209448G>A	uc002oor.2	-	9	1099	c.797C>T	c.(796-798)GCG>GTG	p.A266V	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A225V	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	266	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCCTCACCCGCGGGCAGGGC	0.647		NA											11	5					0	0	0	0
ZNF473	25888	broad.mit.edu	37	19	50549349	50549350	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:50549349_50549350TC>AG	uc002prn.2	+	5	1886_1887	c.1649_1650TC>AG	c.(1648-1650)ATC>AAG	p.I550K	ZNF473_uc002prm.2_Missense_Mutation_p.I550K|ZNF473_uc010ybo.1_Missense_Mutation_p.I538K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGTGGGAAGATCTTGGATCAGA	0.455		NA											5	32					0	0	0	0
NCOA1	8648	broad.mit.edu	37	2	24905921	24905921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:24905921G>C	uc002rfk.2	+	6	714	c.456G>C	c.(454-456)ATG>ATC	p.M152I	NCOA1_uc010eye.2_Missense_Mutation_p.M152I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1I|NCOA1_uc002rfj.2_Missense_Mutation_p.M152I|NCOA1_uc002rfl.2_Missense_Mutation_p.M152I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	152	PAS.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATTAATGAATACGAGCG	0.378		NA	T	PAX3	alveolar rhadomyosarcoma								3	42					0	0	0	0
PSME4	23198	broad.mit.edu	37	2	54133994	54133994	+	Silent	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:54133994T>C	uc002rxp.2	-	25	2852	c.2796A>G	c.(2794-2796)AAA>AAG	p.K932K	PSME4_uc010yop.1_Silent_p.K818K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.K307K|PSME4_uc010fbv.1_Silent_p.K76K	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	932					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TATGTTGTTTTTTCCCATGGA	0.328		NA											3	64					0	0	0	0
TMSB10	9168	broad.mit.edu	37	2	85133166	85133166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:85133166G>A	uc002sow.1	+	2	120	c.25G>A	c.(25-27)GAA>AAA	p.E9K		NM_021103	NP_066926	P63313	TYB10_HUMAN	thymosin, beta 10	9					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding				0						AGACATGGGGGAAATCGCCAG	0.582		NA											23	31					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141093261	141093261	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:141093261C>T	uc002tvj.1	-	78	13011	c.12039G>A	c.(12037-12039)CTG>CTA	p.L4013L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4013	Extracellular (Potential).|LDL-receptor class B 34.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGGCCATTCAGCTGCCCTA	0.433		NA								TSP Lung(27;0.18)			7	156					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168101029	168101029	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168101029T>C	uc002udx.2	+	8	3145	c.3127T>C	c.(3127-3129)TCT>CCT	p.S1043P	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S868P|XIRP2_uc010fpq.2_Missense_Mutation_p.S821P|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	868					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAGAGGAATATCTGCTCAAGA	0.353		NA											9	19					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168102825	168102825	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168102825A>G	uc002udx.2	+	8	4941	c.4923A>G	c.(4921-4923)TTA>TTG	p.L1641L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1466L|XIRP2_uc010fpq.2_Silent_p.L1419L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1466					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTCAATTATTAAACAGATCAA	0.328		NA											8	30					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170062018	170062018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:170062018C>A	uc002ues.2	-	41	7899	c.7686G>T	c.(7684-7686)GAG>GAT	p.E2562D		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2562	LDL-receptor class B 27.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGAAGGTCCTCTTCATAGT	0.483		NA											11	100					0.00136819	0.0067364	1	0
TTN	7273	broad.mit.edu	37	2	179435389	179435389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179435389C>G	uc010zfg.1	-	275	67990	c.67766G>C	c.(67765-67767)CGA>CCA	p.R22589P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16284P|TTN_uc010zfi.1_Missense_Mutation_p.R16217P|TTN_uc010zfj.1_Missense_Mutation_p.R16092P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23516							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)			TATTTCTAATCGAGCTGTGTT	0.413		NA											10	99					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179640223	179640223	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179640223C>T	uc010zfg.1	-	28	6592	c.6368G>A	c.(6367-6369)CGG>CAG	p.R2123Q	TTN_uc010zfh.1_Missense_Mutation_p.R2077Q|TTN_uc010zfi.1_Missense_Mutation_p.R2077Q|TTN_uc010zfj.1_Missense_Mutation_p.R2077Q|TTN_uc002unb.2_Missense_Mutation_p.R2123Q|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2123							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)			CCAGTAGATCCGGTCAGACCG	0.483		NA											16	38					0	0	0	0
TTLL4	9654	broad.mit.edu	37	2	219603790	219603790	+	Missense_Mutation	SNP	A	A	G	rs148659460	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219603790A>G	uc002viy.2	+	3	1761	c.1391A>G	c.(1390-1392)AAC>AGC	p.N464S	TTLL4_uc010zkl.1_Missense_Mutation_p.N299S|TTLL4_uc010fvx.2_Missense_Mutation_p.N464S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	464					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GGCATAGCCAACGTGGCCACC	0.532		NA											12	12					0	0	0	0
CCDC108	255101	broad.mit.edu	37	2	219888039	219888039	+	Missense_Mutation	SNP	G	G	A	rs138095762		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219888039G>A	uc002vjl.1	-	16	2794	c.2710C>T	c.(2710-2712)CGC>TGC	p.R904C		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	904	MSP.					integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGTTGCGGAAGGTGAAG	0.637		NA											9	23					0	0	0	0
PAK7	57144	broad.mit.edu	37	20	9546783	9546783	+	Silent	SNP	C	C	T	rs140739060	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:9546783C>T	uc002wnl.2	-	6	1784	c.1239G>A	c.(1237-1239)CCG>CCA	p.P413P	PAK7_uc002wnk.2_Silent_p.P413P|PAK7_uc002wnj.2_Silent_p.P413P|PAK7_uc010gby.1_Silent_p.P413P	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	413	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.P413L(1)		lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657		NA											20	48					0	0	0	0
MACROD2	140733	broad.mit.edu	37	20	15843468	15843468	+	Missense_Mutation	SNP	G	G	A	rs143525826	by1000genomes	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:15843468G>A	uc002wou.2	+	9	988	c.724G>A	c.(724-726)GTA>ATA	p.V242I	MACROD2_uc002wot.2_Missense_Mutation_p.V242I|MACROD2_uc002woz.2_Missense_Mutation_p.V7I|MACROD2_uc002wpb.2_Missense_Mutation_p.V7I	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	242											0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTTCTCCGTAGGTGAGTA	0.363		NA											8	33					0	0	0	0
PRPF6	24148	broad.mit.edu	37	20	62657405	62657405	+	Silent	SNP	C	C	T	rs151209735		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:62657405C>T	uc002yho.2	+	15	2190	c.2022C>T	c.(2020-2022)ACC>ACT	p.T674T	PRPF6_uc002yhp.2_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	674					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GTGCCCCCACCGCCCGGGTAC	0.682		NA											8	51					0	0	0	0
TPTE	7179	broad.mit.edu	37	21	10952943	10952943	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr21:10952943A>C	uc002yip.1	-	9	622	c.254T>G	c.(253-255)GTG>GGG	p.V85G	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V67G|TPTE_uc002yir.1_Missense_Mutation_p.V47G|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	85					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTGAATGCACAATTTTCTT	0.249		NA											10	39					0	0	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr22:22127164C>A	uc002zvn.2	-	7	1204	c.964G>T	c.(964-966)GAG>TAG	p.E322*	MAPK1_uc002zvo.2_Nonsense_Mutation_p.E322*|MAPK1_uc010gtk.1_Nonsense_Mutation_p.E278*	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478		NA											33	55					1.22e-17	6.93e-17	1	0
CNTN6	27255	broad.mit.edu	37	3	1415634	1415634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:1415634T>C	uc003boz.2	+	16	2239	c.1972T>C	c.(1972-1974)TAC>CAC	p.Y658H	CNTN6_uc011asj.1_Missense_Mutation_p.Y586H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y658H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	658	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTAAGACATACAATGCAAC	0.383		NA											3	26					0	0	0	0
CCRL2	9034	broad.mit.edu	37	3	46449784	46449784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:46449784G>A	uc003cpp.3	+	2	499	c.214G>A	c.(214-216)GTG>ATG	p.V72M	CCRL2_uc010hjg.2_Missense_Mutation_p.V84M|CCRL2_uc010hjf.2_Missense_Mutation_p.V72M	NM_003965	NP_003956	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2 isoform 1	72	Cytoplasmic (Potential).				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		ACTCAAACGCGTGGAAAATAT	0.468		NA											23	31					0	0	0	0
RBM6	10180	broad.mit.edu	37	3	50103889	50103889	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:50103889A>T	uc003cyc.2	+	17	3030	c.2897A>T	c.(2896-2898)AAT>ATT	p.N966I	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.N444I|RBM6_uc003cye.2_Missense_Mutation_p.N444I|RBM6_uc011bdi.1_Missense_Mutation_p.N308I|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	966					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGTTTCCCAATAAAGAAGTT	0.438		NA											50	65					0	0	0	0
PARP14	54625	broad.mit.edu	37	3	122418794	122418794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:122418794C>A	uc003efq.3	+	6	1452	c.1393C>A	c.(1393-1395)CAA>AAA	p.Q465K	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Q182K|PARP14_uc003efs.1_Missense_Mutation_p.Q182K	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403		NA											30	27					2.13e-12	1.18e-11	1	0
KALRN	8997	broad.mit.edu	37	3	124431825	124431825	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:124431825C>A	uc003ehg.2	+	58	8246	c.8119C>A	c.(8119-8121)CGC>AGC	p.R2707S	KALRN_uc003ehk.2_Missense_Mutation_p.R1010S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2706	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CAAAGCTACCCGCAAAGATGT	0.413		NA											17	55					2.23e-06	1.18e-05	1	0
PLXNA1	5361	broad.mit.edu	37	3	126747877	126747877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:126747877G>T	uc003ejg.2	+	25	4646	c.4642G>T	c.(4642-4644)GAG>TAG	p.E1548*	PLXNA1_uc003ejh.2_Nonsense_Mutation_p.E216*	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1571	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CCTGCAGGACGAGGACGTCAC	0.657		NA											16	40					3.57e-18	2.03e-17	1	0
IFT122	55764	broad.mit.edu	37	3	129182445	129182445	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:129182445C>G	uc003emm.2	+	6	598	c.392C>G	c.(391-393)TCA>TGA	p.S131*	IFT122_uc003eml.2_Nonsense_Mutation_p.S182*|IFT122_uc003emn.2_Nonsense_Mutation_p.S131*|IFT122_uc003emo.2_Nonsense_Mutation_p.S79*|IFT122_uc003emp.2_Translation_Start_Site|IFT122_uc010htc.2_Nonsense_Mutation_p.S182*|IFT122_uc011bky.1_Translation_Start_Site|IFT122_uc003emq.2_Nonsense_Mutation_p.S79*|IFT122_uc003emr.2_Translation_Start_Site|IFT122_uc011bla.1_Translation_Start_Site|IFT122_uc011bkx.1_Nonsense_Mutation_p.S79*|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	131	WD 4.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						AAACACAAATCAAGCAGCAAG	0.358		NA											4	61					0	0	0	0
SLC9A9	285195	broad.mit.edu	37	3	142987754	142987754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:142987754G>A	uc003evn.2	-	15	1855	c.1673C>T	c.(1672-1674)CCG>CTG	p.P558L		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	558					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						CCTGGAAATCGGACCACACCA	0.478		NA											7	171					0	0	0	0
SI	6476	broad.mit.edu	37	3	164727148	164727148	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:164727148G>A	uc003fei.2	-	35	4160	c.4098C>T	c.(4096-4098)TTC>TTT	p.F1366F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1366	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAAGTCCTGAAGAAATCTG	0.378		NA								HNSCC(35;0.089)			60	46					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922325	178922325	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:178922325A>T	uc003fjk.2	+	6	1251	c.1094A>T	c.(1093-1095)GAA>GTA	p.E365V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	365	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E365K(2)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGGAGGAGAACCCTTATGT	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	122					0	0	0	0
ATP13A4	84239	broad.mit.edu	37	3	193171990	193171990	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:193171990A>C	uc003ftd.2	-	17	2035	c.1927T>G	c.(1927-1929)TTT>GTT	p.F643V	ATP13A4_uc003fte.1_Missense_Mutation_p.F643V|ATP13A4_uc011bsr.1_Missense_Mutation_p.F114V|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	643	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCGCTAACAAAACTAGTGGGT	0.433		NA											8	89					0	0	0	0
CFI	3426	broad.mit.edu	37	4	110687902	110687902	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:110687902C>T	uc003hzr.3	-	2	344	c.136G>A	c.(136-138)GTC>ATC	p.V46I	CFI_uc011cft.1_Missense_Mutation_p.V46I|CFI_uc003hzs.3_Missense_Mutation_p.V46I	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	46					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGCAGAAGACTTTATCGCAG	0.428		NA											4	46					0	0	0	0
KLKB1	3818	broad.mit.edu	37	4	187155200	187155200	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:187155200C>T	uc003iyy.2	+	4	387	c.316C>T	c.(316-318)CAT>TAT	p.H106Y	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.H68Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	106					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)		GCAATGTGGTCATCAAATAAG	0.383		NA											6	30					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:45262058C>T	uc003jok.2	-	8	2663	c.2638G>A	c.(2638-2640)GAC>AAC	p.D880N		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	880	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTTTCTGCGTCTGGGTCTGTG	0.483		NA											7	161					0	0	0	0
GABRG2	2566	broad.mit.edu	37	5	161580208	161580208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:161580208A>G	uc003lyz.3	+	9	1596	c.1238A>G	c.(1237-1239)GAC>GGC	p.D413G	GABRG2_uc010jjc.2_Missense_Mutation_p.D461G|GABRG2_uc003lyy.3_Missense_Mutation_p.D421G|GABRG2_uc011dej.1_Missense_Mutation_p.D318G	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	413	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACGGCAAGGACTGTGCCAGT	0.458		NA											10	61					0	0	0	0
ZNF192	7745	broad.mit.edu	37	6	28121094	28121095	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:28121094_28121095GG>TT	uc003nkn.1	+	6	1220_1221	c.1036_1037GG>TT	c.(1036-1038)GGG>TTG	p.G346L	ZNF192_uc010jqx.1_Missense_Mutation_p.G346L|ZNF192_uc010jqy.1_Missense_Mutation_p.G159L|ZNF192_uc011dkz.1_Missense_Mutation_p.G159L	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	346					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AATCCACACTGGGGAGAAACCC	0.47		NA											6	213					0	0	0	0
TREML2	79865	broad.mit.edu	37	6	41166104	41166104	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:41166104T>G	uc010jxm.1	-	2	298	c.119A>C	c.(118-120)CAG>CCG	p.Q40P		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	40	Ig-like V-type.|Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATAGGAGCACTGCACAGACAG	0.502		NA											8	169					0	0	0	0
GABRR1	2569	broad.mit.edu	37	6	89926972	89926972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:89926972T>A	uc003pna.2	-	1	525	c.70A>T	c.(70-72)AGC>TGC	p.S24C	GABRR1_uc011dzv.1_Missense_Mutation_p.S18C|GABRR1_uc011dzw.1_RNA	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	24	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCATTCTGCTTTCAGTGGCC	0.463		NA											11	34					0	0	0	0
HEY2	23493	broad.mit.edu	37	6	126080846	126080846	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080846C>T	uc003qad.2	+	5	1103	c.912C>T	c.(910-912)AGC>AGT	p.S304S	HEY2_uc011ebr.1_Silent_p.S258S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	304					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCATCAGCCCGCCCTTGT	0.607		NA											56	103					0	0	0	0
HEY2	23493	broad.mit.edu	37	6	126080849	126080849	+	Silent	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080849G>T	uc003qad.2	+	5	1106	c.915G>T	c.(913-915)CCG>CCT	p.P305P	HEY2_uc011ebr.1_Silent_p.P259P	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCATCAGCCCGCCCTTGTCAG	0.597		NA											54	103					4.67e-30	2.69e-29	1	0
EYA4	2070	broad.mit.edu	37	6	133783512	133783512	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:133783512A>G	uc003qec.3	+	8	935	c.477A>G	c.(475-477)ACA>ACG	p.T159T	EYA4_uc011ecq.1_Silent_p.T105T|EYA4_uc011ecr.1_Silent_p.T105T|EYA4_uc003qed.3_Silent_p.T159T|EYA4_uc003qee.3_Silent_p.T136T|EYA4_uc011ecs.1_Silent_p.T159T|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	159					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCTCAAACAATGTCTGCCT	0.478		NA											27	98					0	0	0	0
STX11	8676	broad.mit.edu	37	6	144508185	144508185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:144508185C>A	uc003qks.3	+	2	613	c.421C>A	c.(421-423)CGC>AGC	p.R141S		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	141					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CACCTTCCAGCGCGCCATGCA	0.657		NA							Familial_Hemophagocytic_Lymphohistiocytosis				13	28					0.00136819	0.0067364	1	0
STARD3NL	83930	broad.mit.edu	37	7	38247206	38247206	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:38247206T>A	uc003tfr.2	+	2	249	c.101T>A	c.(100-102)ATG>AAG	p.M34K	STARD3NL_uc003tfs.2_Missense_Mutation_p.M34K|STARD3NL_uc003tft.2_Missense_Mutation_p.M34K	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	34	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						ACACAACTCATGGCCAGGATT	0.483		NA											39	23					0	0	0	0
GLI3	2737	broad.mit.edu	37	7	42065866	42065866	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:42065866G>T	uc011kbh.1	-	8	1265	c.1174C>A	c.(1174-1176)CCT>ACT	p.P392T	GLI3_uc011kbg.1_Missense_Mutation_p.P333T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	392					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCTGGAATAGGCCTCTGTGTT	0.587		NA							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				10	10					4.69e-08	2.53e-07	1	0
POM121L12	285877	broad.mit.edu	37	7	53104106	53104106	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:53104106T>G	uc003tpz.2	+	1	758	c.742T>G	c.(742-744)TGT>GGT	p.C248G		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	248											0						CCTCAGTTTTTGTGATGATGC	0.632		NA											5	60					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86394698	86394698	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:86394698C>T	uc003uid.2	+	2	1336	c.237C>T	c.(235-237)ATC>ATT	p.I79I	GRM3_uc010lef.2_Silent_p.I77I|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	79	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGATGAAATCAACAAAGATG	0.423		NA											48	120					0	0	0	0
ABCB4	5244	broad.mit.edu	37	7	87037431	87037431	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87037431C>A	uc003uiv.1	-	25	3277	c.3201G>T	c.(3199-3201)CTG>CTT	p.L1067L	ABCB4_uc003uiw.1_Silent_p.L1067L|ABCB4_uc003uix.1_Silent_p.L1020L	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1067	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCTGCCCACCAGGGCTAGTG	0.562		NA											36	112					4.11e-13	2.29e-12	1	0
ABCB4	5244	broad.mit.edu	37	7	87069068	87069068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87069068C>A	uc003uiv.1	-	14	1722	c.1646G>T	c.(1645-1647)CGC>CTC	p.R549L	ABCB4_uc003uiw.1_Missense_Mutation_p.R549L|ABCB4_uc003uix.1_Missense_Mutation_p.R549L	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	549	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTGGGGTTGCGAACCAGGGC	0.532		NA											8	131					0.000274275	0.00137672	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508169	106508169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:106508169G>A	uc003vdv.3	+	2	248	c.163G>A	c.(163-165)GAA>AAA	p.E55K	PIK3CG_uc003vdu.2_Missense_Mutation_p.E55K|PIK3CG_uc003vdw.2_Missense_Mutation_p.E55K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	55					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CAAGAGCCCCGAAACGGCGCT	0.667		NA											32	44					0	0	0	0
OR9A2	135924	broad.mit.edu	37	7	142724094	142724094	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:142724094C>T	uc003wcc.1	-	1	126	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					CAATGATGACCGTGTTTCCCA	0.443		NA											13	130					0	0	0	0
GBX1	2636	broad.mit.edu	37	7	150846025	150846025	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:150846025G>T	uc011kvg.1	-	2	975	c.743C>A	c.(742-744)GCA>GAA	p.A248E		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	248						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCACCGGTGCCCCCTCCTC	0.597		NA											15	161					1.52e-12	8.45e-12	1	0
ADAM2	2515	broad.mit.edu	37	8	39624380	39624380	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:39624380G>A	uc003xnj.2	-	14	1569	c.1494C>T	c.(1492-1494)GAC>GAT	p.D498D	ADAM2_uc003xnk.2_Silent_p.D479D|ADAM2_uc011lck.1_Silent_p.D498D|ADAM2_uc003xnl.2_Silent_p.D372D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	498	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGCCAAATGTGTCTGTACATT	0.363		NA											10	71					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55534743	55534743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:55534743A>T	uc003xsd.1	+	3	830	c.682A>T	c.(682-684)AAA>TAA	p.K228*	RP1_uc011ldy.1_Nonsense_Mutation_p.K228*	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	228	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCCATTTAAACCAGGAAA	0.493		NA											12	21					0	0	0	0
PEX2	5828	broad.mit.edu	37	8	77896342	77896342	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:77896342G>T	uc003yax.2	-	4	531	c.73C>A	c.(73-75)CTA>ATA	p.L25I	PEX2_uc003yay.2_Missense_Mutation_p.L25I|PEX2_uc003yaz.2_Missense_Mutation_p.L25I	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	25					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						GCCTTGTTTAGTTCAAGTGCA	0.458		NA											6	87					3.6e-05	0.000186054	1	0
LRRCC1	85444	broad.mit.edu	37	8	86027454	86027454	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:86027454G>A	uc003ycw.2	+	5	818	c.664G>A	c.(664-666)GGT>AGT	p.G222S	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Missense_Mutation_p.G129S|LRRCC1_uc003ycy.2_Missense_Mutation_p.G202S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	222					cell division|mitosis	centriole|nucleus					0						GTGCCTAGAAGGTCTTTTGGA	0.328		NA											27	42					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885295	88885295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:88885295G>A	uc003ydz.2	-	1	1002	c.905C>T	c.(904-906)ACT>ATT	p.T302I		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	302	WD 1.									ovary(1)	1						TACACATTTAGTGGCCCTCAA	0.512		NA											21	29					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139190886	139190886	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:139190886C>A	uc003yuy.2	-	10	1092	c.921G>T	c.(919-921)CTG>CTT	p.L307L	FAM135B_uc003yux.2_Silent_p.L208L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	307										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGCCAGGCCAGATCCTTGC	0.512		NA								HNSCC(54;0.14)			16	31					7.08e-05	0.000363436	1	0
KIFC2	90990	broad.mit.edu	37	8	145694974	145694974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:145694974C>T	uc003zcz.2	+	12	1389	c.1324C>T	c.(1324-1326)CGC>TGC	p.R442C	KIFC2_uc003zda.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	442	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTACCGGGGGCGCCATCGTCG	0.612		NA											9	38					0	0	0	0
PDCL	5082	broad.mit.edu	37	9	125585307	125585307	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:125585307C>T	uc004bmz.1	-	3	438	c.342G>A	c.(340-342)AAG>AAA	p.K114K	PDCL_uc004bna.2_Silent_p.K114K	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	114					signal transduction|visual perception						0						TCCCACTGATCTTCTCCTGGA	0.493		NA											5	147					0	0	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022971	131022971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131022971G>A	uc011maw.1	-	17	1463	c.1450C>T	c.(1450-1452)CAA>TAA	p.Q484*	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'UTR|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	484	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						ACCTGGGCTTGAAGCTGTCCT	0.682		NA											23	54					0	0	0	0
SET	6418	broad.mit.edu	37	9	131456200	131456200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131456200G>C	uc004bvt.3	+	7	969	c.728G>C	c.(727-729)GGA>GCA	p.G243A	SET_uc004bvu.3_Missense_Mutation_p.G230A|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.G219A	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	243	Asp/Glu-rich (highly acidic).				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATgaagaaggagaaggagaa	0.149		NA	T	NUP214	AML								6	39					0	0	0	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136081795A>G	uc004ccz.2	-	5	439	c.397T>C	c.(397-399)TCT>CCT	p.S133P	OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65P	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B precursor	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612		NA											3	46					0	0	0	0
SARDH	1757	broad.mit.edu	37	9	136573442	136573442	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136573442G>A	uc004cep.3	-	11	1571	c.1437C>T	c.(1435-1437)GCC>GCT	p.A479A	SARDH_uc004ceo.2_Silent_p.A479A|SARDH_uc011mdn.1_Silent_p.A479A|SARDH_uc011mdo.1_Silent_p.A311A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	479					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTTGCGCCCGGCCAGCGGCT	0.657		NA											7	73					0	0	0	0
DLG3	1741	broad.mit.edu	37	X	69673592	69673592	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:69673592A>G	uc004dyi.1	+	8	1579	c.1251A>G	c.(1249-1251)GGA>GGG	p.G417G	DLG3_uc004dyj.1_Silent_p.G80G|DLG3_uc011mpn.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	417	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					TCCTGGCAGGAGGCCCAGCTG	0.567		NA											2	6					0	0	0	0
BTK	695	broad.mit.edu	37	X	100617676	100617676	+	Silent	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617676T>A	uc004ehg.2	-	6	586	c.393A>T	c.(391-393)GTA>GTT	p.V131V	BTK_uc010nnn.2_Silent_p.V131V|BTK_uc010nno.2_Silent_p.V165V|BTK_uc004ehi.2_Silent_p.V131V	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	131	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TGTACCGGATTACTGTAGCAG	0.458		NA							Agammaglobulinemia_X-linked				6	95					0	0	0	0
BTK	695	broad.mit.edu	37	X	100617678	100617678	+	Splice_Site	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617678C>A	uc004ehg.2	-	6	585	c.392_splice	c.e6-1	p.V131_splice	BTK_uc010nnn.2_Splice_Site_p.V131_splice|BTK_uc010nno.2_Splice_Site_p.V165_splice|BTK_uc004ehi.2_Splice_Site_p.V131_splice	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TACCGGATTACTGTAGCAGGA	0.463		NA							Agammaglobulinemia_X-linked				6	92					0.00116845	0.0057898	1	0
AGTR2	186	broad.mit.edu	37	X	115304382	115304382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:115304382G>C	uc004eqh.3	+	3	1056	c.849G>C	c.(847-849)TGG>TGC	p.W283C		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	283	Extracellular (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						CTCTGGCCTGGATGGGTGTCA	0.507		NA											11	84					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49431982	49431983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:49431982_49431983insA	uc001rta.3	-	34	9156_9157	c.9156_9157insT	c.(9154-9159)TATACTfs	p.Y3052fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3052_3053					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						TCAGGATCAGTATATGCCAGCA	0.52		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			18	38	---	---	---	---	NA	NA	NA	NA
RGPD3	653489	broad.mit.edu	37	2	107040930	107040931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:107040930_107040931insA	uc010ywi.1	-	20	3549_3550	c.3492_3493insT	c.(3490-3495)TTTGAGfs	p.F1164fs		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1164_1165	RanBD1 1.				intracellular transport		binding			ovary(1)	1						TGGCATTCCTCAAATTTCTGCT	0.436		NA											74	75	---	---	---	---	NA	NA	NA	NA
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:42897358_42897360delTGC	uc003ota.3	+	1	499_501	c.50_52delTGC	c.(49-54)TTGCTG>TTG	p.17_18LL>L	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	17_18					innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.606		NA											2	4	---	---	---	---	NA	NA	NA	NA
TCEAL3	85012	broad.mit.edu	37	X	102864401	102864403	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:102864401_102864403delGAG	uc004ekq.2	+	3	671_673	c.409_411delGAG	c.(409-411)GAGdel	p.E138del	TCEAL3_uc004ekr.2_In_Frame_Del_p.E138del	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TCTGAGCAGTGAGGAGATGATGA	0.478		NA											62	57	---	---	---	---	NA	NA	NA	NA
