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
RERE	473	broad.mit.edu	37	1	8418972	8418972	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:8418972G>A	uc001ape.2	-	21	4433	c.3623C>T	c.(3622-3624)GCG>GTG	p.A1208V	RERE_uc001apf.2_Missense_Mutation_p.A1208V|RERE_uc001apd.2_Missense_Mutation_p.A654V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1208	Potential.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGAGCTGGACGCCTTCTGCAG	0.642000												
SRM	6723	broad.mit.edu	37	1	11116784	11116784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:11116784G>A	uc001arz.1	-	4	503	c.412C>T	c.(412-414)CCA>TCA	p.P138S	SRM_uc001ary.1_5'UTR	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	138					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCCATGCCTGGCAGGAACTTC	0.572000												
NPPB	4879	broad.mit.edu	37	1	11918372	11918372	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:11918372T>C	uc001atj.2	-	2	389	c.287A>G	c.(286-288)TAC>TGC	p.Y96C		NM_002521	NP_002512	P16860	ANFB_HUMAN	natriuretic peptide precursor B preproprotein	96					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CCGCAGGGTGTAGAGGACCAT	0.647000												
KIAA0090	23065	broad.mit.edu	37	1	19577930	19577930	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:19577930T>A	uc001bbo.2	-	1	117	c.74A>T	c.(73-75)GAC>GTC	p.D25V	KIAA0090_uc001bbp.2_Missense_Mutation_p.D25V|KIAA0090_uc001bbq.2_Missense_Mutation_p.D25V|KIAA0090_uc001bbr.2_Missense_Mutation_p.D25V|MRTO4_uc001bbs.2_5'Flank	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	25	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GCCCACTTGGTCTTCGTAGAC	0.562000												
PINK1	65018	broad.mit.edu	37	1	20964564	20964564	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:20964564A>C	uc001bdm.2	+	2	711	c.617A>C	c.(616-618)GAG>GCG	p.E206A		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	206	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAGGGCAGGAGCGAGCTCCG	0.577000												
ECE1	1889	broad.mit.edu	37	1	21599193	21599193	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:21599193G>A	uc001bek.2	-	4	567	c.492C>T	c.(490-492)CTC>CTT	p.L164L	ECE1_uc001bem.2_Silent_p.L148L|ECE1_uc001bej.2_Silent_p.L152L|ECE1_uc001bei.2_Silent_p.L161L|ECE1_uc010odl.1_Silent_p.L164L|ECE1_uc009vqa.1_Silent_p.L164L	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	164	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATGCTTACCGAGGAGGTGCT	0.597000												
PTPRU	10076	broad.mit.edu	37	1	29581889	29581889	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:29581889G>T	uc001bru.2	+	2	286	c.176G>T	c.(175-177)GGC>GTC	p.G59V	PTPRU_uc001brv.2_Missense_Mutation_p.G59V|PTPRU_uc001brw.2_Missense_Mutation_p.G59V|PTPRU_uc009vtq.2_Missense_Mutation_p.G59V|PTPRU_uc009vtr.2_Missense_Mutation_p.G59V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	59	Extracellular (Potential).|MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATCCACCCTGGCACCCGGGCA	0.507000												
RBBP4	5928	broad.mit.edu	37	1	33134451	33134451	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:33134451A>G	uc001bvr.2	+	5	755	c.596A>G	c.(595-597)GAC>GGC	p.D199G	RBBP4_uc001bvs.2_Missense_Mutation_p.D198G|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.D164G	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	199	WD 2.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCTTCAGATGACCATGTGTGT	0.463000												
EPHA10	284656	broad.mit.edu	37	1	38227120	38227120	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:38227120G>A	uc009vvi.2	-	3	893	c.807C>T	c.(805-807)TGC>TGT	p.C269C	EPHA10_uc001cbw.3_Silent_p.C269C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	269	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGCTGCAGCTGCAGCGGCCCA	0.687000												
RLF	6018	broad.mit.edu	37	1	40705156	40705156	+	Silent	SNP	C	C	T	rs145611435	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:40705156C>T	uc001cfc.3	+	8	4813	c.4782C>T	c.(4780-4782)TAC>TAT	p.Y1594Y	RLF_uc001cfd.3_Silent_p.Y1285Y	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1594					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCGTTAAGTACGGTACCAAAA	0.428000												
SLFNL1	200172	broad.mit.edu	37	1	41483496	41483496	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:41483496G>A	uc001cgm.1	-	3	988	c.768C>T	c.(766-768)GGC>GGT	p.G256G	SLFNL1_uc009vwf.1_Silent_p.G256G|SLFNL1_uc001cgn.1_Silent_p.G197G|SLFNL1_uc009vwg.1_Silent_p.G256G	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	256							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CGAGCAGGCTGCCGCCCTCGC	0.667000												
TIE1	7075	broad.mit.edu	37	1	43772883	43772883	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:43772883C>T	uc001ciu.2	+	5	790	c.711C>T	c.(709-711)TGC>TGT	p.C237C	TIE1_uc010okd.1_Silent_p.C237C|TIE1_uc010oke.1_Silent_p.C192C|TIE1_uc009vwq.2_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Silent_p.C237C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	237	Extracellular (Potential).|EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGTGTCTGCCACGACCATG	0.632000												
DMRTB1	63948	broad.mit.edu	37	1	53927224	53927224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:53927224C>T	uc001cvq.1	+	2	711	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	219	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCCTACTGCCCGTTCCCGCTG	0.657000												
BRDT	676	broad.mit.edu	37	1	92428391	92428391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:92428391G>A	uc001dok.3	+	2	429	c.80G>A	c.(79-81)CGA>CAA	p.R27Q	BRDT_uc001dol.3_Missense_Mutation_p.R27Q|BRDT_uc010osz.1_Missense_Mutation_p.R27Q|BRDT_uc009wdf.2_Intron|BRDT_uc010ota.1_Missense_Mutation_p.R27Q|BRDT_uc010otb.1_Missense_Mutation_p.R27Q|BRDT_uc001dom.3_Missense_Mutation_p.R27Q	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAAATGGGCGATTGACAAAT	0.378000												
ABCA4	24	broad.mit.edu	37	1	94502716	94502716	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:94502716G>A	uc001dqh.2	-	25	3902	c.3798C>T	c.(3796-3798)GAC>GAT	p.D1266D		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1266	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGGGGAGTGTCAGAAATTC	0.453000												
GPR61	83873	broad.mit.edu	37	1	110085827	110085827	+	Silent	SNP	C	C	T	rs138020817	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:110085827C>T	uc001dxy.2	+	2	866	c.183C>T	c.(181-183)GCC>GCT	p.A61A		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	61	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGCAATGCCGCTGTGATGG	0.612000												
SLC16A4	9122	broad.mit.edu	37	1	110921593	110921593	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:110921593A>G	uc001dzo.1	-	6	1094	c.912T>C	c.(910-912)TTT>TTC	p.F304F	SLC16A4_uc009wfs.1_Silent_p.F256F|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Silent_p.F242F|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Silent_p.F194F	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	304	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AAGACCAAGTAAATATGTAGA	0.393000												
HIPK1	204851	broad.mit.edu	37	1	114483597	114483597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:114483597C>T	uc001eem.2	+	2	753	c.592C>T	c.(592-594)CGG>TGG	p.R198W	HIPK1_uc001eel.2_Missense_Mutation_p.R198W|HIPK1_uc001een.2_Missense_Mutation_p.R198W	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	198	Protein kinase.|ATP (Probable).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCTAGGCCGGGGGACATT	0.498000												
ATP1A1	476	broad.mit.edu	37	1	116931263	116931263	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:116931263G>A	uc001ege.2	+	6	844	c.505G>A	c.(505-507)GCC>ACC	p.A169T	ATP1A1_uc010owv.1_Missense_Mutation_p.A138T|ATP1A1_uc010oww.1_Missense_Mutation_p.A169T|ATP1A1_uc010owx.1_Missense_Mutation_p.A138T	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	169	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCCAAAGCAAGCCCTTGTGAT	0.393000												
TTF2	8458	broad.mit.edu	37	1	117632754	117632754	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:117632754A>G	uc001egy.2	+	14	2440	c.2420A>G	c.(2419-2421)GAA>GGA	p.E807G		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	807					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAAGGAGGAGAACGGTTAAGT	0.448000												
PDE4DIP	9659	broad.mit.edu	37	1	144881535	144881535	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:144881535A>G	uc001elw.3	-	25	3952	c.3661T>C	c.(3661-3663)TCA>CCA	p.S1221P	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1177P|PDE4DIP_uc001elv.3_Missense_Mutation_p.S228P	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1221	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCATTGTGACAGCTGGGAG	0.542000			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	144915576	144915576	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:144915576A>G	uc001elw.3	-	14	2140	c.1849T>C	c.(1849-1851)TGC>CGC	p.C617R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.C683R|PDE4DIP_uc001emc.1_Missense_Mutation_p.C617R|PDE4DIP_uc001emd.1_Missense_Mutation_p.C617R|PDE4DIP_uc001emb.1_Missense_Mutation_p.C780R|PDE4DIP_uc001eme.1_Missense_Mutation_p.C146R|PDE4DIP_uc001emf.1_Missense_Mutation_p.C402R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	617	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGACGCTGGCACAGCTCCTCT	0.478000			T	PDGFRB	MPD							
PI4KB	5298	broad.mit.edu	37	1	151288916	151288916	+	Silent	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:151288916A>C	uc001ext.2	-	2	457	c.42T>G	c.(40-42)ACT>ACG	p.T14T	PI4KB_uc001exr.2_Silent_p.T26T|PI4KB_uc001exs.2_Silent_p.T14T|PI4KB_uc001exu.2_Silent_p.T14T|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Silent_p.T26T	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	14					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGGCTCAGAAGTTGGCTTCA	0.567000												
TDRKH	11022	broad.mit.edu	37	1	151747603	151747603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:151747603C>T	uc009wnb.1	-	11	1656	c.1474G>A	c.(1474-1476)GCA>ACA	p.A492T	TDRKH_uc001eyy.2_Missense_Mutation_p.A268T|TDRKH_uc001ezb.3_Missense_Mutation_p.A488T|TDRKH_uc001ezc.3_Missense_Mutation_p.A447T|TDRKH_uc001eza.3_Missense_Mutation_p.A492T|TDRKH_uc001ezd.3_Missense_Mutation_p.A492T|TDRKH_uc010pdn.1_Missense_Mutation_p.A268T	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	492							RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAATTGCGTATCCTTTG	0.408000												
S100A8	6279	broad.mit.edu	37	1	153362988	153362988	+	Silent	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:153362988G>T	uc001fbs.2	-	2	79	c.24C>A	c.(22-24)GCC>GCA	p.A8A		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	8					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGAGTTCAAGGCTTTCTCCA	0.507000												
CHRNB2	1141	broad.mit.edu	37	1	154543725	154543725	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:154543725C>T	uc001ffg.2	+	5	690	c.426C>T	c.(424-426)AGC>AGT	p.S142S		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	142	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ATGATGGCAGCATCTTCTGGC	0.532000												
ASH1L	55870	broad.mit.edu	37	1	155450332	155450332	+	Missense_Mutation	SNP	G	G	A	rs150671158	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:155450332G>A	uc009wqq.2	-	3	2809	c.2329C>T	c.(2329-2331)CGC>TGC	p.R777C	ASH1L_uc001fkt.2_Missense_Mutation_p.R777C|ASH1L_uc009wqr.1_Missense_Mutation_p.R777C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	777					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCAATCGGCGTTTAAGGAAG	0.393000												
IFI16	3428	broad.mit.edu	37	1	158988127	158988127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:158988127A>G	uc001ftf.1	+	6	1265	c.658A>G	c.(658-660)ACC>GCC	p.T220A	IFI16_uc001ftg.2_Missense_Mutation_p.T220A|IFI16_uc010pis.1_Missense_Mutation_p.T164A	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	220	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TGAATATGAGACCCCAGAAAT	0.403000												
CCDC19	25790	broad.mit.edu	37	1	159846359	159846359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:159846359C>T	uc001fui.2	-	10	1357	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E362K|CCDC19_uc001ful.2_Missense_Mutation_p.E362K|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	447	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGAATCCTCTCGAACTCATCC	0.537000												
NR1I3	9970	broad.mit.edu	37	1	161201029	161201029	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:161201029G>T	uc001fzx.2	-	7	904	c.701C>A	c.(700-702)CCC>CAC	p.P234H	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Intron|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Intron|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Intron|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.P234H|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.P234H|NR1I3_uc001fzy.2_Intron|NR1I3_uc001fzz.2_Intron|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Intron|NR1I3_uc001gac.2_Missense_Mutation_p.P205H|NR1I3_uc010pkm.1_Intron|NR1I3_uc010pkn.1_3'UTR	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	234					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCCACTGTGGGAGATACTAG	0.517000												
ALDH9A1	223	broad.mit.edu	37	1	165638534	165638534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:165638534G>A	uc001gdh.1	-	7	1189	c.1084C>T	c.(1084-1086)CGA>TGA	p.R362*	ALDH9A1_uc010pky.1_Nonsense_Mutation_p.R268*|ALDH9A1_uc010pkz.1_Nonsense_Mutation_p.R352*|ALDH9A1_uc010pla.1_Nonsense_Mutation_p.R268*	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	338					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CCAAGGACTCGCTCCAGGTGT	0.463000												
KLHL20	27252	broad.mit.edu	37	1	173720977	173720977	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:173720977C>T	uc001gjc.2	+	4	851	c.672C>T	c.(670-672)AAC>AAT	p.N224N	KLHL20_uc010pmr.1_Silent_p.N35N|KLHL20_uc009wwf.2_Silent_p.N206N	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	224	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						ATGAGCTAAACGTTCGCAGTG	0.398000												
ASTN1	460	broad.mit.edu	37	1	176926923	176926923	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:176926923A>G	uc001glc.2	-	11	1990	c.1778T>C	c.(1777-1779)GTT>GCT	p.V593A	ASTN1_uc001glb.1_Missense_Mutation_p.V593A|ASTN1_uc001gld.1_Missense_Mutation_p.V593A|ASTN1_uc009wwx.1_Missense_Mutation_p.V593A	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	601					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						ATCTAAGAGAACCTCCAGGCT	0.527000												
RALGPS2	55103	broad.mit.edu	37	1	178854243	178854243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:178854243C>T	uc001glz.2	+	12	1275	c.937C>T	c.(937-939)CGA>TGA	p.R313*	RALGPS2_uc010pnb.1_Nonsense_Mutation_p.R313*	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	313					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						ACAGAGTGGACGAAAAAGTGT	0.433000												
LAMC1	3915	broad.mit.edu	37	1	183111832	183111832	+	Silent	SNP	C	C	T	rs139212722		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:183111832C>T	uc001gpy.3	+	28	4994	c.4737C>T	c.(4735-4737)ATC>ATT	p.I1579I		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1579	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGAGATATCGAGGAGATCA	0.473000												
RGS13	6003	broad.mit.edu	37	1	192628502	192628502	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:192628502T>C	uc001gsj.2	+	7	610	c.329T>C	c.(328-330)ATC>ACC	p.I110T	RGS13_uc001gsk.2_Missense_Mutation_p.I110T	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	110	RGS.					plasma membrane	GTPase activator activity|signal transducer activity				0						GAGACTATCATCAGGAACATT	0.353000												
ASPM	259266	broad.mit.edu	37	1	197060039	197060039	+	Missense_Mutation	SNP	G	G	A	rs140679756		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:197060039G>A	uc001gtu.2	-	23	9834	c.9577C>T	c.(9577-9579)CGC>TGC	p.R3193C	ASPM_uc001gtv.2_Missense_Mutation_p.R1608C|ASPM_uc001gtw.3_Missense_Mutation_p.R1041C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3193	IQ 38.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGAAAATGGCGCACTGCTTTC	0.343000												
C1orf106	55765	broad.mit.edu	37	1	200880598	200880598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:200880598C>T	uc001gvo.2	+	9	1262	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	C1orf106_uc010ppm.1_Missense_Mutation_p.A326V	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	411										skin(2)|ovary(1)	3						TCCTTCCGGGCGGGTCCTGAG	0.642000												
UBE2T	29089	broad.mit.edu	37	1	202304780	202304780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:202304780G>A	uc001gxx.3	-	2	239	c.103C>T	c.(103-105)CGA>TGA	p.R35*		NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T	35					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity				0						CTACGAGCTCGCAGGTCATCC	0.433000												
PIK3C2B	5287	broad.mit.edu	37	1	204413529	204413529	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:204413529C>T	uc001haw.2	-	18	3181	c.2702G>A	c.(2701-2703)CGT>CAT	p.R901H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R873H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	901					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACAGCCATACGACGCACCTC	0.587000												
C1orf107	27042	broad.mit.edu	37	1	210006641	210006641	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:210006641G>A	uc001hhr.1	+	4	576	c.500G>A	c.(499-501)AGC>AAC	p.S167N	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	167	Glu-rich.				multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TCACTGTTCAGCCTGGAAACC	0.478000												
NVL	4931	broad.mit.edu	37	1	224495799	224495799	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:224495799T>C	uc001hok.2	-	6	552	c.509A>G	c.(508-510)GAA>GGA	p.E170G	NVL_uc001hol.2_Missense_Mutation_p.E64G|NVL_uc010pvd.1_Intron|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	170						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CCATCCTCCTTCAGAATCTTT	0.423000												
JMJD4	65094	broad.mit.edu	37	1	227920368	227920368	+	Silent	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:227920368T>G	uc001hrb.2	-	6	1117	c.1117A>C	c.(1117-1119)AGG>CGG	p.R373R	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Silent_p.R357R	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	373											0		Prostate(94;0.0885)				GAGCAGGACCTCATGATGACC	0.582000												
PRSS38	339501	broad.mit.edu	37	1	228003829	228003829	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:228003829G>A	uc001hrh.2	+	2	187	c.187G>A	c.(187-189)GGC>AGC	p.G63S		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	63	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						AATCCTGGGCGGCGTCCCTGC	0.612000												
OBSCN	84033	broad.mit.edu	37	1	228404718	228404718	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:228404718C>T	uc009xez.1	+	8	2426	c.2382C>T	c.(2380-2382)CTC>CTT	p.L794L	OBSCN_uc001hsn.2_Silent_p.L794L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	794					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGCAGGCCTCGCGCGCTTTC	0.652000												
ABCB10	23456	broad.mit.edu	37	1	229685122	229685122	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:229685122C>T	uc001htp.3	-	2	620	c.577G>A	c.(577-579)GGG>AGG	p.G193R		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	193	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGATCTTCCCCAGGAAGAAA	0.517000												
C1orf198	84886	broad.mit.edu	37	1	230979323	230979323	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:230979323G>A	uc001hub.2	-	3	748	c.704C>T	c.(703-705)CCG>CTG	p.P235L	C1orf198_uc009xfh.1_Missense_Mutation_p.P105L|C1orf198_uc001huc.1_Missense_Mutation_p.P18L|C1orf198_uc001hud.1_Missense_Mutation_p.P197L	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	235											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTGTCCTTCGGGGCAGGTTC	0.637000												
RYR2	6262	broad.mit.edu	37	1	237666765	237666765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:237666765C>T	uc001hyl.1	+	22	2693	c.2573C>T	c.(2572-2574)ACG>ATG	p.T858M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	858	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTCCCTGACGCAAGCTGCC	0.493000												
KIF26B	55083	broad.mit.edu	37	1	245848974	245848974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:245848974C>T	uc001ibf.1	+	12	3129	c.2689C>T	c.(2689-2691)CAG>TAG	p.Q897*	KIF26B_uc001ibg.1_Nonsense_Mutation_p.Q515*|KIF26B_uc001ibh.1_Nonsense_Mutation_p.Q139*	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	897					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCAGCCCTGCAGAAGACCCG	0.647000												
OR2G3	81469	broad.mit.edu	37	1	247769005	247769005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:247769005G>A	uc010pyz.1	+	1	118	c.118G>A	c.(118-120)GTG>ATG	p.V40M		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTGACCCTTGTGGGAAACTT	0.448000												
ZMYND11	10771	broad.mit.edu	37	10	298390	298390	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:298390A>G	uc010pzt.1	+	15	2217	c.1789A>G	c.(1789-1791)ACC>GCC	p.T597A	ZMYND11_uc010pzu.1_Missense_Mutation_p.T597A|ZMYND11_uc010pzv.1_Missense_Mutation_p.T542A|ZMYND11_uc010pzw.1_Missense_Mutation_p.T512A|ZMYND11_uc001ifm.2_Missense_Mutation_p.T543A|ZMYND11_uc009xhg.2_Missense_Mutation_p.T580A|ZMYND11_uc009xhh.2_Missense_Mutation_p.T471A|ZMYND11_uc010pzy.1_Missense_Mutation_p.T449A	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	557	MYND-type.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCACAAGCGCACCTGCCGCCG	0.542000												
PFKP	5214	broad.mit.edu	37	10	3155656	3155656	+	Silent	SNP	C	C	T	rs148946725		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:3155656C>T	uc001igp.2	+	13	1353	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	PFKP_uc001igq.2_Silent_p.D431D|PFKP_uc009xhr.2_Silent_p.D401D|PFKP_uc009xhs.1_Silent_p.D223D|PFKP_uc009xht.2_Silent_p.D177D|PFKP_uc009xhu.2_Translation_Start_Site	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	439					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCATTGCCGACGGCCACAGGA	0.617000												
UPF2	26019	broad.mit.edu	37	10	11997436	11997436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:11997436C>T	uc001ila.2	-	13	3119	c.2645G>A	c.(2644-2646)CGA>CAA	p.R882Q	UPF2_uc001ilb.2_Missense_Mutation_p.R882Q|UPF2_uc001ilc.2_Missense_Mutation_p.R882Q|UPF2_uc009xiz.1_Missense_Mutation_p.R882Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	882	Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TTCCACCATTCGGTAATTGTA	0.403000												
CDC123	8872	broad.mit.edu	37	10	12291660	12291660	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:12291660C>T	uc001ill.2	+	12	1211	c.927C>T	c.(925-927)GAC>GAT	p.D309D	CDC123_uc001ilm.2_Silent_p.D321D	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	309					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						TACCCAAGGACTTTGTAGACC	0.463000												
BEND7	222389	broad.mit.edu	37	10	13541863	13541863	+	Silent	SNP	C	C	T	rs113945389	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:13541863C>T	uc001imm.2	-	3	504	c.207G>A	c.(205-207)CCG>CCA	p.P69P	BEND7_uc001imo.3_Silent_p.P69P	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	121							protein binding			ovary(1)|breast(1)	2						CACTCTGGGGCGGTAGCTCAT	0.577000												
HSPA14	51182	broad.mit.edu	37	10	14896175	14896175	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:14896175G>A	uc001inf.2	+	9	927	c.786G>A	c.(784-786)ACG>ACA	p.T262T		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	262					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						TGAAATTAACGAACAGTGCTG	0.378000												
PLXDC2	84898	broad.mit.edu	37	10	20290849	20290849	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:20290849T>C	uc001iqg.1	+	2	895	c.258T>C	c.(256-258)TCT>TCC	p.S86S	PLXDC2_uc001iqh.1_Silent_p.S86S	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	86	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GCCAAGACTCTCCTGAGCCCA	0.493000												
SVIL	6840	broad.mit.edu	37	10	29811362	29811362	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:29811362G>A	uc001iut.1	-	16	4119	c.3366C>T	c.(3364-3366)AGC>AGT	p.S1122S	SVIL_uc010qdw.1_Silent_p.S20S|SVIL_uc001iuu.1_Silent_p.S696S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1122					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ACATGGTTTTGCTGGGTGAGT	0.483000												
GPRIN2	9721	broad.mit.edu	37	10	47000018	47000018	+	Missense_Mutation	SNP	C	C	T	rs114077038	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:47000018C>T	uc001jec.2	+	3	1273	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	GPRIN2_uc010qfq.1_Missense_Mutation_p.R143W	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	380											0						GTCCCCTGTGCGGGATGTGCG	0.647000												
GDF10	2662	broad.mit.edu	37	10	48429407	48429407	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:48429407C>T	uc001jfb.2	-	2	935	c.479G>A	c.(478-480)CGC>CAC	p.R160H	GDF10_uc009xnp.2_Missense_Mutation_p.R159H|GDF10_uc009xnq.1_Missense_Mutation_p.R160H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	160					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGGCAGCGGGCGGCCTGAAGC	0.682000												
C10orf128	170371	broad.mit.edu	37	10	50374941	50374941	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:50374941G>T	uc001jhn.3	-	3	237	c.211C>A	c.(211-213)CTG>ATG	p.L71M	C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Missense_Mutation_p.L71M|C10orf128_uc010qgo.1_Missense_Mutation_p.L71M|C10orf128_uc001jho.3_Missense_Mutation_p.L71M	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN	hypothetical protein LOC170371 precursor	71	Cytoplasmic (Potential).					integral to membrane				lung(1)	1						GTGCTTTTCAGGTCGGAAGAG	0.622000												
ANK3	288	broad.mit.edu	37	10	62021641	62021641	+	Silent	SNP	C	C	T	rs146748344		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:62021641C>T	uc001jky.2	-	7	966	c.774G>A	c.(772-774)GCG>GCA	p.A258A	ANK3_uc010qih.1_Silent_p.A241A|ANK3_uc001jkz.3_Silent_p.A252A|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	258	ANK 6.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CCACAGCAGCCGCTCGGTTTA	0.438000												
ZNF365	22891	broad.mit.edu	37	10	64136621	64136621	+	Silent	SNP	C	C	T	rs150802191		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:64136621C>T	uc001jmc.2	+	2	984	c.669C>T	c.(667-669)GAC>GAT	p.D223D	ZNF365_uc001jly.3_Silent_p.D238D|ZNF365_uc001jmb.3_Silent_p.D223D|ZNF365_uc001jlz.3_Silent_p.D223D|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GACAGGTGGACGTGGCCGTGG	0.512000												
CCAR1	55749	broad.mit.edu	37	10	70525719	70525719	+	Silent	SNP	G	G	A	rs149316365		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:70525719G>A	uc001joo.2	+	17	2300	c.2181G>A	c.(2179-2181)CCG>CCA	p.P727P	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.P532P|CCAR1_uc009xpx.1_Silent_p.P701P|CCAR1_uc001jon.1_Silent_p.P673P|CCAR1_uc010qiz.1_Silent_p.P712P|CCAR1_uc010qja.1_Silent_p.P712P|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	727	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						CTGATGAACCGGCCATCATTG	0.383000												
VCL	7414	broad.mit.edu	37	10	75877825	75877825	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:75877825T>C	uc001jwd.2	+	22	3397	c.3303T>C	c.(3301-3303)TCT>TCC	p.S1101S	VCL_uc009xrr.2_Silent_p.S782S|VCL_uc001jwe.2_Silent_p.S1033S|VCL_uc010qkz.1_Silent_p.S294S	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	1101	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TCATGCAGTCTGTGAAGGAGA	0.512000												
LRIT2	340745	broad.mit.edu	37	10	85984651	85984651	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:85984651C>T	uc001kcy.2	-	2	338	c.330G>A	c.(328-330)CTG>CTA	p.L110L	LRIT2_uc010qmc.1_Silent_p.L110L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	110	LRR 2.					integral to membrane				ovary(2)	2						TGTTCCCCTCCAGTCTCAGCT	0.527000												
TNKS2	80351	broad.mit.edu	37	10	93622745	93622745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:93622745G>A	uc001khp.2	+	27	3787	c.3490G>A	c.(3490-3492)GTC>ATC	p.V1164I		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1164	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TGAAGGTATGGTCGATGGATA	0.323000												
CRTAC1	55118	broad.mit.edu	37	10	99683148	99683148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:99683148G>A	uc001kou.1	-	4	787	c.431C>T	c.(430-432)ACG>ATG	p.T144M	CRTAC1_uc001kov.2_Missense_Mutation_p.T133M|CRTAC1_uc001kot.1_Translation_Start_Site	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	144	FG-GAP 2; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGGTGTACGTGGCCACCCC	0.572000												
SUFU	51684	broad.mit.edu	37	10	104356986	104356986	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:104356986C>T	uc001kvy.1	+	7	992	c.846C>T	c.(844-846)CCC>CCT	p.P282P	SUFU_uc001kvw.1_Silent_p.P282P|SUFU_uc001kvx.2_Silent_p.P282P|SUFU_uc009xxe.1_RNA|SUFU_uc009xxf.1_RNA	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	282					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCGGCCCCCCGAGGATGACG	0.597000			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SH3PXD2A	9644	broad.mit.edu	37	10	105362278	105362278	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:105362278G>A	uc001kxj.1	-	14	2753	c.2613C>T	c.(2611-2613)AAC>AAT	p.N871N	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.N706N|SH3PXD2A_uc010qqt.1_Silent_p.N748N|SH3PXD2A_uc009xxn.1_Silent_p.N706N|SH3PXD2A_uc010qqu.1_Silent_p.N814N	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	899	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CAGGTTGCTCGTTCTCATCCA	0.607000												
NRAP	4892	broad.mit.edu	37	10	115364629	115364629	+	Silent	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:115364629G>T	uc001laj.2	-	35	4130	c.3966C>A	c.(3964-3966)CCC>CCA	p.P1322P	NRAP_uc009xyb.2_Silent_p.P111P|NRAP_uc001lak.2_Silent_p.P1287P|NRAP_uc001lal.3_Silent_p.P1322P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1322	Nebulin 35.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTACACTCTGGGGCCCTATGA	0.577000												
RIC8A	60626	broad.mit.edu	37	11	212613	212613	+	Splice_Site	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:212613A>G	uc001log.2	+	7	1391	c.1066_splice	c.e7-2	p.V356_splice	RIC8A_uc001lof.2_Missense_Mutation_p.Q361R|RIC8A_uc001loh.2_Splice_Site_p.V349_splice	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8							cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACCTCCCCAGGTGCTGCCC	0.607000												
ANO9	338440	broad.mit.edu	37	11	428612	428612	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:428612C>T	uc001lpi.2	-	13	1133	c.1048G>A	c.(1048-1050)GTC>ATC	p.V350I	ANO9_uc001lph.2_Missense_Mutation_p.V43I|ANO9_uc010qvv.1_Missense_Mutation_p.V206I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	350	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACCACCAGGACGTGGGCCATG	0.721000												
OR51G2	81282	broad.mit.edu	37	11	4936206	4936206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:4936206C>T	uc001lzr.1	-	1	688	c.688G>A	c.(688-690)GTG>ATG	p.V230M		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACAGCACGGTGCGCAGG	0.522000												
UBQLNL	143630	broad.mit.edu	37	11	5536466	5536466	+	Silent	SNP	A	A	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:5536466A>T	uc001maz.3	-	1	1491	c.1206T>A	c.(1204-1206)TCT>TCA	p.S402S	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	402										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGCTACTTAGAGAAACAGTGG	0.498000												
CNGA4	1262	broad.mit.edu	37	11	6261463	6261463	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:6261463G>A	uc001mco.2	+	4	546	c.439G>A	c.(439-441)GCG>ACG	p.A147T	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A107T	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTCTCCGCGCGCCCCGCCT	0.587000												
ILK	3611	broad.mit.edu	37	11	6630785	6630785	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:6630785C>T	uc001mee.2	+	9	906	c.771C>T	c.(769-771)TGC>TGT	p.C257C	ILK_uc001mef.2_Silent_p.C257C|ILK_uc010rap.1_Silent_p.C123C|ILK_uc010raq.1_Silent_p.C196C|ILK_uc001meg.2_Silent_p.C103C|ILK_uc001meh.2_Silent_p.C257C|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	257	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TAGGTGCCTGCCAGTCTCCAC	0.498000												
ZNF215	7762	broad.mit.edu	37	11	6953704	6953704	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:6953704C>A	uc001mey.2	+	3	789	c.201C>A	c.(199-201)AGC>AGA	p.S67R	ZNF215_uc010raw.1_Missense_Mutation_p.S67R|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.S67R	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAGCCCTGAGCCAACTCTGGG	0.483000												
MICALCL	84953	broad.mit.edu	37	11	12315408	12315408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:12315408C>T	uc001mkg.1	+	3	721	c.430C>T	c.(430-432)CAA>TAA	p.Q144*		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	144					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CTGGACAGGGCAAGAGCTATC	0.587000												
FBXO3	26273	broad.mit.edu	37	11	33773099	33773099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:33773099C>T	uc001muz.2	-	7	807	c.779G>A	c.(778-780)GGC>GAC	p.G260D	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.G147D|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.G260D|FBXO3_uc001mvb.1_Missense_Mutation_p.G255D|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	260					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GATGGGGAAGCCACCTGATAC	0.328000												
CAT	847	broad.mit.edu	37	11	34485651	34485651	+	Splice_Site	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:34485651G>T	uc001mvm.2	+	10	1279	c.1196_splice	c.e10-1	p.G399_splice	CAT_uc009ykc.1_Splice_Site|CAT_uc001mvn.2_Splice_Site_p.G8_splice	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTGTTTTGAAGGTGGTGCTCC	0.423000												
CHST1	8534	broad.mit.edu	37	11	45671729	45671729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:45671729C>T	uc001mys.1	-	4	1416	c.745G>A	c.(745-747)GAC>AAC	p.D249N		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	249	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGTACGTGTCGCGGAAGGTC	0.647000												
CKAP5	9793	broad.mit.edu	37	11	46842731	46842731	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:46842731G>A	uc001ndi.1	-	2	162	c.52C>T	c.(52-54)CAC>TAC	p.H18Y	CKAP5_uc009ylg.1_5'Flank|CKAP5_uc001ndj.1_Missense_Mutation_p.H18Y	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	18					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CTTACCTTGTGTTCACATTTC	0.388000												
KBTBD4	55709	broad.mit.edu	37	11	47599113	47599113	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:47599113A>G	uc001nfx.2	-	2	610	c.439T>C	c.(439-441)TGC>CGC	p.C147R	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.C172R|KBTBD4_uc001nfz.2_Missense_Mutation_p.C163R|KBTBD4_uc001nfy.2_Missense_Mutation_p.C147R|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	147	BACK.									ovary(1)|central_nervous_system(1)	2						ACCTGAAGGCAGTTTCCCACT	0.532000												
KDM2A	22992	broad.mit.edu	37	11	67021880	67021880	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:67021880A>G	uc001ojw.2	+	20	4162	c.3298A>G	c.(3298-3300)AAT>GAT	p.N1100D	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.N794D|KDM2A_uc001ojz.1_Missense_Mutation_p.N558D|KDM2A_uc001oka.2_Missense_Mutation_p.N224D	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1100	LRR 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CACAGAGCTCAATATGGCAGG	0.537000												
MRGPRD	116512	broad.mit.edu	37	11	68747740	68747740	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:68747740A>G	uc010rqf.1	-	1	716	c.716T>C	c.(715-717)ATC>ACC	p.I239T		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	239	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAACCAGTAGATGCTCAGAGG	0.627000												
CCND1	595	broad.mit.edu	37	11	69465973	69465973	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:69465973G>A	uc001opa.2	+	5	1020	c.811G>A	c.(811-813)GCC>ACC	p.A271T		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	271					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCCCAAGGCCGCCgaggagga	0.582000			T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)		
CHRDL2	25884	broad.mit.edu	37	11	74421903	74421903	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:74421903G>A	uc001ovi.2	-	4	676	c.423C>T	c.(421-423)TGC>TGT	p.C141C	CHRDL2_uc001ovg.2_Silent_p.C25C|CHRDL2_uc001ovh.2_Silent_p.C141C|CHRDL2_uc001ovk.1_Silent_p.C141C			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	141	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					CTGTGCAGCTGCAGAGGACAC	0.587000												
UVRAG	7405	broad.mit.edu	37	11	75694509	75694509	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:75694509C>T	uc001oxc.2	+	8	1019	c.778C>T	c.(778-780)CGG>TGG	p.R260W	UVRAG_uc010rrw.1_Missense_Mutation_p.R159W|UVRAG_uc001oxd.2_Translation_Start_Site|UVRAG_uc010rrx.1_Translation_Start_Site|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	260	Potential.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGCTTTGGGACGGGAGGTGGC	0.388000												
WNT11	7481	broad.mit.edu	37	11	75907667	75907667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:75907667C>T	uc001oxe.2	-	2	302	c.179G>A	c.(178-180)CGC>CAC	p.R60H	WNT11_uc001oxf.1_Missense_Mutation_p.R60H	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	60					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						CAGGTTGCTGCGGCACAGCTG	0.652000												
PCF11	51585	broad.mit.edu	37	11	82877632	82877632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:82877632C>T	uc001ozx.3	+	5	2038	c.1693C>T	c.(1693-1695)CGA>TGA	p.R565*	PCF11_uc010rsu.1_Nonsense_Mutation_p.R565*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	565					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TGAAGAGGAGCGACCACAAGA	0.423000												
C11orf73	51501	broad.mit.edu	37	11	86017511	86017511	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:86017511A>G	uc001pbu.2	+	2	493	c.255A>G	c.(253-255)TCA>TCG	p.S85S	C11orf73_uc001pbt.2_Silent_p.S85S|C11orf73_uc010rto.1_Intron|C11orf73_uc010rtp.1_Intron|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	85						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TCAAAATTTCAGGTCTTAAAT	0.323000												
FAT3	120114	broad.mit.edu	37	11	92616283	92616283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:92616283G>A	uc001pdj.3	+	23	12678	c.12661G>A	c.(12661-12663)GTC>ATC	p.V4221I	FAT3_uc001pdi.3_Missense_Mutation_p.V661I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4221	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGCCGCAACGTCTACCAGGA	0.652000										TCGA Ovarian(4;0.039)		
MTNR1B	4544	broad.mit.edu	37	11	92702954	92702954	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:92702954C>T	uc001pdk.1	+	1	166	c.63C>T	c.(61-63)GGC>GGT	p.G21G		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	21	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGCGCCCGGGCTGGTCGGGGG	0.736000												
C11orf54	28970	broad.mit.edu	37	11	93494832	93494832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:93494832C>T	uc009ywi.2	+	10	1257	c.926C>T	c.(925-927)ACG>ATG	p.T309M	C11orf54_uc001pef.2_Missense_Mutation_p.T259M|C11orf54_uc001peg.2_Missense_Mutation_p.T309M|C11orf54_uc001peh.2_Missense_Mutation_p.T309M|C11orf54_uc001pei.2_Missense_Mutation_p.T290M|C11orf54_uc001pej.2_Missense_Mutation_p.T290M|C11orf54_uc001pek.2_Missense_Mutation_p.T198M	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	309						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAAAAGAGACGCATTCAATT	0.294000												
SESN3	143686	broad.mit.edu	37	11	94922973	94922973	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:94922973T>C	uc001pfk.1	-	4	717	c.495A>G	c.(493-495)CGA>CGG	p.R165R	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Silent_p.R165R	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	165					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCAGCCAAGGTCGATGTGCTA	0.333000												
PGR	5241	broad.mit.edu	37	11	100999546	100999546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:100999546C>T	uc001pgh.2	-	1	999	c.256G>A	c.(256-258)GCA>ACA	p.A86T	PGR_uc001pgi.2_Missense_Mutation_p.A86T|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	86	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTGGAATATGCGCCCTCCACG	0.602000												
ZW10	9183	broad.mit.edu	37	11	113629418	113629418	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:113629418A>C	uc001poe.2	-	6	628	c.591T>G	c.(589-591)AGT>AGG	p.S197R	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	197	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AAGATTCCAAACTGCTGGTAT	0.403000												
C11orf71	54494	broad.mit.edu	37	11	114270731	114270731	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:114270731T>G	uc001pou.3	-	1	525	c.323A>C	c.(322-324)CAG>CCG	p.Q108P	C11orf71_uc001pot.1_Missense_Mutation_p.Q108P|RBM7_uc001pov.2_5'Flank|RBM7_uc001pow.2_5'Flank|RBM7_uc001pox.2_5'Flank	NM_019021	NP_061894	Q6IPW1	CK071_HUMAN	hypothetical protein LOC54494	108											0		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		AATCAAACGCTGTTGCAGCAC	0.517000												
ROBO4	54538	broad.mit.edu	37	11	124767016	124767016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:124767016G>A	uc001qbg.2	-	2	352	c.212C>T	c.(211-213)CCC>CTC	p.P71L	ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	71	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CATGCTCAGGGGCTGCCCATT	0.687000												
TMEM45B	120224	broad.mit.edu	37	11	129724691	129724691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:129724691C>T	uc001qfe.1	+	3	426	c.365C>T	c.(364-366)GCT>GTT	p.A122V	TMEM45B_uc001qff.1_Missense_Mutation_p.A122V	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	122	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGGTTATGGCTGTGGCAGTA	0.458000												
B4GALNT3	283358	broad.mit.edu	37	12	661272	661272	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:661272G>T	uc001qii.1	+	12	1151	c.1151G>T	c.(1150-1152)AGC>ATC	p.S384I	B4GALNT3_uc001qij.1_Missense_Mutation_p.S286I|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	384	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCCGCCTGAGCCACATGGAG	0.483000												
TEAD4	7004	broad.mit.edu	37	12	3104142	3104142	+	Silent	SNP	C	C	T	rs148965461	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:3104142C>T	uc010sej.1	+	3	484	c.207C>T	c.(205-207)GAC>GAT	p.D69D	TEAD4_uc010sek.1_Silent_p.D69D|TEAD4_uc001qln.2_Intron	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	70	TEA.				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCCTGTCGGACGAGGGCAAGA	0.627000												
NDUFA9	4704	broad.mit.edu	37	12	4778941	4778941	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:4778941T>C	uc001qnc.2	+	8	768	c.758T>C	c.(757-759)GTT>GCT	p.V253A	NDUFA9_uc010ses.1_Missense_Mutation_p.V34A	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	253					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	GTTAATGCAGTTAAGGATCCT	0.333000												
KCNA6	3742	broad.mit.edu	37	12	4919240	4919240	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:4919240G>A	uc001qng.2	+	1	899	c.33G>A	c.(31-33)GCG>GCA	p.A11A		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	11						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CGCTGGCGGCGCCGGGGGAGG	0.711000										HNSCC(72;0.22)		
CHD4	1108	broad.mit.edu	37	12	6701626	6701626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:6701626C>T	uc001qpo.2	-	19	3045	c.2881G>A	c.(2881-2883)GAT>AAT	p.D961N	CHD4_uc001qpn.2_Missense_Mutation_p.D954N|CHD4_uc001qpp.2_Missense_Mutation_p.D958N	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	961					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGAACACATCGGCTTTGAGC	0.507000												
PZP	5858	broad.mit.edu	37	12	9301589	9301589	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:9301589A>G	uc001qvl.2	-	36	4457	c.4428T>C	c.(4426-4428)GAT>GAC	p.D1476D	PZP_uc009zgl.2_Silent_p.D1262D	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CATGCTCTGTATCTATGGAGA	0.373000												
SOX5	6660	broad.mit.edu	37	12	23689454	23689454	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:23689454G>A	uc001rfw.2	-	14	2023	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	SOX5_uc001rfx.2_Missense_Mutation_p.R628C|SOX5_uc001rfy.2_Missense_Mutation_p.R520C|SOX5_uc001rfv.2_Missense_Mutation_p.R255C|SOX5_uc010siv.1_Missense_Mutation_p.R628C|SOX5_uc010siw.1_RNA	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	641					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TCACCAATGCGCAGCTTTTTG	0.522000												
FAR2	55711	broad.mit.edu	37	12	29469849	29469849	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:29469849G>A	uc001ris.3	+	9	1178	c.1031G>A	c.(1030-1032)AGC>AAC	p.S344N	FAR2_uc001rit.2_Missense_Mutation_p.S344N|FAR2_uc009zjm.2_Missense_Mutation_p.S247N|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	344					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						AATTTTACCAGCAACAGCTTC	0.488000												
PUS7L	83448	broad.mit.edu	37	12	44148200	44148200	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:44148200T>C	uc001rnq.3	-	2	1338	c.849A>G	c.(847-849)AAA>AAG	p.K283K	PUS7L_uc001rnr.3_Silent_p.K283K|PUS7L_uc001rns.3_Silent_p.K283K|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	283					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTGTGTGCTTTTTCCCGAA	0.353000												
ARID2	196528	broad.mit.edu	37	12	46285639	46285639	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:46285639T>C	uc001ros.1	+	17	4999	c.4999T>C	c.(4999-5001)TGT>CGT	p.C1667R	ARID2_uc001ror.2_Missense_Mutation_p.C1667R|ARID2_uc009zkg.1_Missense_Mutation_p.C1123R|ARID2_uc009zkh.1_Missense_Mutation_p.C1294R|ARID2_uc001rou.1_Missense_Mutation_p.C1001R	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1667					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCAGGGCAGTGTCTTTGGGA	0.393000												
HDAC7	51564	broad.mit.edu	37	12	48185439	48185439	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:48185439A>G	uc010slo.1	-	15	2058	c.1863T>C	c.(1861-1863)TCT>TCC	p.S621S	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Silent_p.S55S|HDAC7_uc001rqj.3_Silent_p.S584S|HDAC7_uc001rqk.3_Silent_p.S604S	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	582	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CGTGCCGCTCAGAGTGGACCG	0.637000												
TROAP	10024	broad.mit.edu	37	12	49724166	49724166	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49724166A>G	uc001rtx.3	+	13	1705	c.1538A>G	c.(1537-1539)CAG>CGG	p.Q513R	TROAP_uc009zlh.2_Missense_Mutation_p.Q513R|TROAP_uc001rty.2_Missense_Mutation_p.Q221R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	513	Cys-rich.				cell adhesion	cytoplasm				ovary(1)	1						GGGGAACCACAGCCCTGCCCT	0.592000												
C1QL4	338761	broad.mit.edu	37	12	49729777	49729777	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49729777T>C	uc001rtz.1	-	1	1195	c.484A>G	c.(484-486)ATG>GTG	p.M162V		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	162	C1q.					collagen					0						CCGCCGCGCATGAGCACGTGG	0.627000												
FAM186B	84070	broad.mit.edu	37	12	49993929	49993929	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49993929C>A	uc001ruo.2	-	4	1667	c.1494G>T	c.(1492-1494)GAG>GAT	p.E498D	FAM186B_uc010smk.1_Missense_Mutation_p.E408D	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	498						protein complex				ovary(1)	1						GCTGCCACATCTCCTCCTCCT	0.632000												
HOXC9	3225	broad.mit.edu	37	12	54394139	54394139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:54394139C>T	uc001sep.2	+	2	265	c.167C>T	c.(166-168)GCG>GTG	p.A56V	HOXC9_uc001seq.2_Missense_Mutation_p.A56V	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	56					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						TGTAGCTTCGCGCCCAAGCCG	0.687000												
DGKA	1606	broad.mit.edu	37	12	56332996	56332996	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:56332996T>C	uc001sij.2	+	8	765	c.501T>C	c.(499-501)ATT>ATC	p.I167I	DGKA_uc009zoc.1_Silent_p.I167I|DGKA_uc001sih.1_Silent_p.I55I|DGKA_uc001sii.1_Silent_p.I25I|DGKA_uc009zod.1_Silent_p.I86I|DGKA_uc009zoe.1_Silent_p.I167I|DGKA_uc001sik.2_Silent_p.I167I|DGKA_uc001sil.2_Silent_p.I167I|DGKA_uc001sim.2_Silent_p.I167I|DGKA_uc001sin.2_Silent_p.I167I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	167	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	TGAAAGAGATTGACTATGATG	0.542000												
ESYT1	23344	broad.mit.edu	37	12	56525096	56525096	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:56525096T>C	uc001sjq.2	+	5	760	c.710T>C	c.(709-711)ATG>ACG	p.M237T	ESYT1_uc001sjr.2_Missense_Mutation_p.M237T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	237						integral to membrane				ovary(4)|skin(1)	5						GTCAAGGGCATGCAGGTAGGC	0.473000												
R3HDM2	22864	broad.mit.edu	37	12	57648686	57648686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:57648686G>A	uc009zpm.1	-	22	2836	c.2801C>T	c.(2800-2802)GCT>GTT	p.A934V	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.A629V|R3HDM2_uc001snr.2_Missense_Mutation_p.A661V|R3HDM2_uc001sns.2_Missense_Mutation_p.A934V|R3HDM2_uc001snt.2_Missense_Mutation_p.A948V|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	934						nucleus	nucleic acid binding			ovary(2)	2						GGGGAACACAGCCACAATGGT	0.587000												
PPM1H	57460	broad.mit.edu	37	12	63113972	63113972	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:63113972C>A	uc001srk.3	-	6	1201	c.1052G>T	c.(1051-1053)AGG>ATG	p.R351M		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	351	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATTAAAGTCCCTGTAGAGCAT	0.468000												
TMBIM4	51643	broad.mit.edu	37	12	66531853	66531853	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:66531853T>A	uc001stc.2	-	7	680	c.604A>T	c.(604-606)ATG>TTG	p.M202L	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.M171L|TMBIM4_uc009zqr.2_Missense_Mutation_p.M249L|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	202						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		AGTTTATGCATCAGTGAGTGT	0.423000												
CAND1	55832	broad.mit.edu	37	12	67696213	67696213	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:67696213T>A	uc001stn.2	+	8	1548	c.1111T>A	c.(1111-1113)TTC>ATC	p.F371I	CAND1_uc001sto.2_Missense_Mutation_p.F49I	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	371	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCTTCCAGAATTCTACAAGAC	0.423000												
NAV3	89795	broad.mit.edu	37	12	78583914	78583914	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:78583914T>G	uc001syp.2	+	34	6379	c.6206T>G	c.(6205-6207)CTT>CGT	p.L2069R	NAV3_uc001syo.2_Missense_Mutation_p.L2047R|NAV3_uc010sub.1_Missense_Mutation_p.L1526R|NAV3_uc009zsf.2_Missense_Mutation_p.L878R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2069						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GCAAACAAACTTGCTGAATAT	0.373000										HNSCC(70;0.22)		
STAB2	55576	broad.mit.edu	37	12	104156095	104156095	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:104156095T>C	uc001tjw.2	+	67	7589	c.7403T>C	c.(7402-7404)ATC>ACC	p.I2468T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2468	Helical; (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TTCTTTGCCATCATCCTGGTG	0.488000												
NUAK1	9891	broad.mit.edu	37	12	106460931	106460931	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:106460931C>T	uc001tlj.1	-	7	3015	c.1635G>A	c.(1633-1635)ATG>ATA	p.M545I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	545							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCAGTGTGGGCATTTCAGGGC	0.612000												
UBE3B	89910	broad.mit.edu	37	12	109967832	109967832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:109967832G>A	uc001top.2	+	25	3368	c.2765G>A	c.(2764-2766)CGT>CAT	p.R922H	UBE3B_uc001toq.2_Missense_Mutation_p.R922H|UBE3B_uc001tos.2_Missense_Mutation_p.R349H|UBE3B_uc001tot.2_Missense_Mutation_p.R40H|UBE3B_uc010sxp.1_Missense_Mutation_p.R40H	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	922	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GAACTGCAGCGTCTCATCTCT	0.488000												
GIT2	9815	broad.mit.edu	37	12	110370843	110370843	+	Silent	SNP	G	G	A	rs150244358		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:110370843G>A	uc001tps.2	-	20	2385	c.2220C>T	c.(2218-2220)TAC>TAT	p.Y740Y	TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Silent_p.Y710Y|GIT2_uc001tpv.2_Silent_p.Y662Y|GIT2_uc001tpu.2_Silent_p.Y660Y|GIT2_uc001tpt.2_Silent_p.Y612Y|GIT2_uc010sxu.1_Silent_p.Y648Y	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	740					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TGGCGATGTCGTACGCACACT	0.448000												
IFT81	28981	broad.mit.edu	37	12	110643263	110643263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:110643263C>T	uc001tqi.2	+	16	1790	c.1660C>T	c.(1660-1662)CGT>TGT	p.R554C	IFT81_uc001tqh.2_Missense_Mutation_p.R554C|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	554	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TAGAAGACTCCGTGAAGAATG	0.303000												
OAS1	4938	broad.mit.edu	37	12	113348996	113348996	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:113348996A>G	uc001tud.2	+	3	716	c.610A>G	c.(610-612)AAG>GAG	p.K204E	OAS1_uc010syn.1_Missense_Mutation_p.K203E|OAS1_uc010syo.1_Missense_Mutation_p.Q187R|OAS1_uc001tub.2_Missense_Mutation_p.K204E|OAS1_uc001tuc.2_Missense_Mutation_p.K204E|OAS1_uc009zwf.2_Missense_Mutation_p.K203E	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	204					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						GCGCCCCACCAAGCTCAAGAG	0.527000												
CCDC62	84660	broad.mit.edu	37	12	123270349	123270349	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:123270349G>A	uc001udc.2	+	4	625	c.480G>A	c.(478-480)ACG>ACA	p.T160T	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.T160T|CCDC62_uc001ude.2_Intron	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	160	Potential.					cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAGCTCTTACGACAATGATAA	0.403000												
EIF2B1	1967	broad.mit.edu	37	12	124106442	124106442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:124106442G>A	uc001ufm.2	-	9	922	c.779C>T	c.(778-780)GCG>GTG	p.A260V	EIF2B1_uc001ufn.2_Missense_Mutation_p.A258V	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCCAGTCTGCGCGACCTTGAG	0.522000												
GOLGA3	2802	broad.mit.edu	37	12	133359063	133359063	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:133359063C>T	uc001ukz.1	-	17	3843	c.3284G>A	c.(3283-3285)GGC>GAC	p.G1095D	GOLGA3_uc001ula.1_Missense_Mutation_p.G1095D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1095	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTCCTAAAGCCTCTGGATTC	0.448000												
LNX2	222484	broad.mit.edu	37	13	28136741	28136741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:28136741G>A	uc001url.3	-	5	1342	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	LNX2_uc001urm.1_Missense_Mutation_p.R345W	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	345	PDZ 2.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCAGAGTCCCGTTTATGAAGA	0.498000												
SLC7A1	6541	broad.mit.edu	37	13	30104821	30104821	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:30104821C>T	uc001uso.2	-	5	945	c.558G>A	c.(556-558)TCG>TCA	p.S186S		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	186	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGACCATGGCCGACTCTTTCA	0.433000												
DNAJC15	29103	broad.mit.edu	37	13	43643080	43643080	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:43643080C>T	uc001uyy.2	+	3	576	c.175C>T	c.(175-177)CGG>TGG	p.R59W		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	59						integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CTACGCATTTCGGATCTGGAA	0.333000												
COG3	83548	broad.mit.edu	37	13	46083903	46083903	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:46083903G>A	uc001vak.2	+	15	1772	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T	COG3_uc001vaj.1_Silent_p.T557T|COG3_uc010tfv.1_Silent_p.T394T|COG3_uc010aci.2_Silent_p.T333T	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	557					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GGTATCCTACGGTTCGAAGAA	0.388000												
DHRS12	79758	broad.mit.edu	37	13	52351200	52351200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:52351200C>T	uc001vfq.2	-	6	554	c.506G>A	c.(505-507)CGA>CAA	p.R169Q	DHRS12_uc001vfr.1_Missense_Mutation_p.R120Q|DHRS12_uc001vfs.1_Missense_Mutation_p.R120Q			A0PJE2	DHR12_HUMAN	RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;	169							binding|oxidoreductase activity				0		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		ACTCACCACTCGGGGGTCGTG	0.567000												
DOCK9	23348	broad.mit.edu	37	13	99481946	99481946	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:99481946T>C	uc001vnt.2	-	42	4689	c.4634A>G	c.(4633-4635)CAG>CGG	p.Q1545R	DOCK9_uc001vnw.2_Missense_Mutation_p.Q1544R|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.Q1545R|DOCK9_uc001vnq.2_Missense_Mutation_p.Q117R|DOCK9_uc001vnr.2_Missense_Mutation_p.Q188R|DOCK9_uc010tin.1_Missense_Mutation_p.Q188R|DOCK9_uc001vns.2_Missense_Mutation_p.Q117R|DOCK9_uc010tio.1_Missense_Mutation_p.Q237R|DOCK9_uc010tip.1_Missense_Mutation_p.Q255R|DOCK9_uc001vnu.1_Missense_Mutation_p.Q117R|DOCK9_uc010tiq.1_Missense_Mutation_p.Q523R	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1545	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGACAGGGACTGCTGGAATCT	0.498000												
ARGLU1	55082	broad.mit.edu	37	13	107219984	107219984	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:107219984A>G	uc001vqk.3	-	1	531	c.284T>C	c.(283-285)CTG>CCG	p.L95P		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	95											0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCTCGTCCAGGCTGCTGCG	0.582000												
MYO16	23026	broad.mit.edu	37	13	109475609	109475609	+	Silent	SNP	C	C	T	rs141132835	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:109475609C>T	uc001vqt.1	+	9	1140	c.1014C>T	c.(1012-1014)CCC>CCT	p.P338P	MYO16_uc010agk.1_Silent_p.P360P|MYO16_uc001vqu.1_Silent_p.P138P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	338					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P338T(1)		ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACGATCTTCCCGTACTGTCGA	0.428000												
COL4A1	1282	broad.mit.edu	37	13	110838771	110838771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:110838771C>T	uc001vqw.3	-	26	1980	c.1858G>A	c.(1858-1860)GCA>ACA	p.A620T	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	620	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAAAGCCTGCTTGTCCTTTG	0.617000												
F10	2159	broad.mit.edu	37	13	113783899	113783899	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:113783899C>T	uc001vsx.2	+	2	261	c.204C>T	c.(202-204)CGC>CGT	p.R68R	F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.R68R|F10_uc001vsz.2_Silent_p.R68R	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	68	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGAGGCCCGCGAGGTCTTTG	0.592000												
TMCO3	55002	broad.mit.edu	37	13	114188557	114188557	+	Splice_Site	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr13:114188557T>C	uc001vtu.3	+	9	1900	c.1539_splice	c.e9+2	p.T513_splice	TMCO3_uc001vtt.3_Missense_Mutation_p.V514A	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATGTTAACGGTAATTCTCAAA	0.338000												
EDDM3A	10876	broad.mit.edu	37	14	21216035	21216035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:21216035C>T	uc001vyb.2	+	2	363	c.296C>T	c.(295-297)GCC>GTC	p.A99V	EDDM3A_uc001vyc.2_Missense_Mutation_p.A99V	NM_006683	NP_006674	Q14507	EP3A_HUMAN	human epididymis-specific 3 alpha precursor	99					sperm displacement	extracellular space					0						GCCCCAGGTGCCCTCAAAGTA	0.443000												
SLC25A21	89874	broad.mit.edu	37	14	37641501	37641501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:37641501C>T	uc001wtz.1	-	1	365	c.55G>A	c.(55-57)GCC>ACC	p.A19T	uc001wua.2_5'UTR	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	19	Helical; Name=1; (Potential).|Solcar 1.				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GAACCACCGGCCACGATCTGC	0.642000												
PPIL5	122769	broad.mit.edu	37	14	50074337	50074337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:50074337C>T	uc001wwn.2	+	3	826	c.502C>T	c.(502-504)CGA>TGA	p.R168*	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Nonsense_Mutation_p.R109*|PPIL5_uc001wwp.2_RNA	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	168	LRR 1.										0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCTTGTCCGAGTTGATAT	0.358000												
TRIM9	114088	broad.mit.edu	37	14	51467459	51467459	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:51467459G>A	uc001wyx.3	-	6	2171	c.1406C>T	c.(1405-1407)ACG>ATG	p.T469M	TRIM9_uc001wyy.2_Missense_Mutation_p.T465M|TRIM9_uc001wyz.3_Missense_Mutation_p.T469M	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	469	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GGCGGGCACCGTGGACAGAGG	0.547000												
NID2	22795	broad.mit.edu	37	14	52478375	52478375	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:52478375G>A	uc001wzo.2	-	17	3681	c.3447C>T	c.(3445-3447)TAC>TAT	p.Y1149Y	NID2_uc010tqs.1_Silent_p.Y1101Y|NID2_uc010tqt.1_Silent_p.Y1149Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1149						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCGGCAGTCGTAATCAATTC	0.488000												
DAAM1	23002	broad.mit.edu	37	14	59834294	59834294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:59834294C>T	uc001xdz.1	+	25	3129	c.3004C>T	c.(3004-3006)CGT>TGT	p.R1002C	DAAM1_uc001xea.1_Missense_Mutation_p.R992C|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	1002	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAAGAAGAACGTCGAGCTCG	0.413000												
SYNE2	23224	broad.mit.edu	37	14	64514742	64514742	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:64514742T>C	uc001xgm.2	+	46	7476	c.7246T>C	c.(7246-7248)TCA>CCA	p.S2416P	SYNE2_uc001xgl.2_Missense_Mutation_p.S2416P	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2416	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGGCTATGTCAAAACAACT	0.313000												
SPTB	6710	broad.mit.edu	37	14	65253382	65253382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:65253382G>A	uc001xht.2	-	15	3355	c.3301C>T	c.(3301-3303)CAG>TAG	p.Q1101*	SPTB_uc001xhr.2_Nonsense_Mutation_p.Q1101*|SPTB_uc001xhs.2_Nonsense_Mutation_p.Q1101*|SPTB_uc001xhu.2_Nonsense_Mutation_p.Q1101*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1101	Spectrin 8.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCATGCTGCTGCAGGAGCTGC	0.587000												
ZFYVE26	23503	broad.mit.edu	37	14	68234521	68234521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:68234521G>A	uc001xka.2	-	31	5829	c.5690C>T	c.(5689-5691)TCG>TTG	p.S1897L	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S1897L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1897					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACCACAAACGAGTATGGAGG	0.473000												
C14orf43	91748	broad.mit.edu	37	14	74193673	74193673	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:74193673C>T	uc001xot.2	-	6	2948	c.2165G>A	c.(2164-2166)CGG>CAG	p.R722Q	C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Missense_Mutation_p.R722Q|C14orf43_uc010tud.1_Missense_Mutation_p.R722Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	722	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CACGTTGATCCGTCTAGAGGA	0.607000												
C14orf118	55668	broad.mit.edu	37	14	76633039	76633039	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:76633039T>C	uc001xsh.2	+	3	782	c.696T>C	c.(694-696)ACT>ACC	p.T232T	C14orf118_uc001xsi.2_Silent_p.T232T|C14orf118_uc001xsj.1_Silent_p.T232T|C14orf118_uc001xsk.1_Silent_p.T232T|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	232										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GCAGTGACACTGGGCTCTTTA	0.423000												
C14orf4	64207	broad.mit.edu	37	14	77492310	77492310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:77492310C>T	uc001xsy.2	-	1	2725	c.1826G>A	c.(1825-1827)CGG>CAG	p.R609Q		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	609	Pro-rich.					nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		TGGGGTGGTCCGGTTGGAATG	0.507000												
C14orf148	122945	broad.mit.edu	37	14	77889102	77889102	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:77889102A>G	uc001xtr.2	-	1	278	c.131T>C	c.(130-132)TTC>TCC	p.F44S	C14orf148_uc010tvi.1_Missense_Mutation_p.F44S	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	44					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		TAGTTTGCAGAAGAAGGTTGC	0.423000												
SPTLC2	9517	broad.mit.edu	37	14	78018519	78018519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:78018519G>A	uc001xub.2	-	9	1411	c.1223C>T	c.(1222-1224)GCC>GTC	p.A408V		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	408						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAATGACGTGGCATACACTGC	0.488000												
PTPN21	11099	broad.mit.edu	37	14	88938739	88938739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:88938739C>T	uc001xwv.3	-	15	3051	c.2720G>A	c.(2719-2721)CGG>CAG	p.R907Q	PTPN21_uc010twc.1_Missense_Mutation_p.R703Q	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	907	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ATCAACTAGCCGTTTCTTAAG	0.368000												
TTC7B	145567	broad.mit.edu	37	14	91211166	91211166	+	Silent	SNP	G	G	A	rs141007402	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:91211166G>A	uc001xyp.2	-	4	668	c.546C>T	c.(544-546)ATC>ATT	p.I182I		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	182							binding			ovary(2)	2		Melanoma(154;0.222)				ACAGGAGTGCGATGTCCCCTG	0.443000												
KLC1	3831	broad.mit.edu	37	14	104121009	104121009	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:104121009A>G	uc001yno.2	+	2	416	c.108A>G	c.(106-108)GAA>GAG	p.E36E	KLC1_uc010tyd.1_Silent_p.E195E|KLC1_uc010tye.1_Silent_p.E32E|KLC1_uc001ynm.1_Silent_p.E36E|KLC1_uc001ynn.1_Silent_p.E32E|KLC1_uc010tyf.1_Silent_p.E36E	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	36					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGGGGCTGGAAGCTTTGAAGA	0.373000												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139856	42139856	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:42139856G>A	uc010bco.2	+	20	2245	c.2144G>A	c.(2143-2145)CGG>CAG	p.R715Q	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.R946Q|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.G884R|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.R416Q	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	715	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GGGGTCCGGCGGACACCCGAG	0.632000												
SPTBN5	51332	broad.mit.edu	37	15	42170721	42170721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:42170721G>A	uc001zos.2	-	17	3517	c.3184C>T	c.(3184-3186)CGC>TGC	p.R1062C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1097					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCAGCCTGGCGCCGGGCCCGT	0.637000												
DUOX1	53905	broad.mit.edu	37	15	45433228	45433228	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:45433228C>T	uc001zus.1	+	14	1871	c.1525C>T	c.(1525-1527)CGG>TGG	p.R509W	DUOX1_uc001zut.1_Missense_Mutation_p.R509W|DUOX1_uc010bee.1_Translation_Start_Site	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	509	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTGCGGCTACGGGATGGTGA	0.612000												
ALDH1A2	8854	broad.mit.edu	37	15	58256130	58256130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:58256130G>A	uc002aex.2	-	9	1097	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C	ALDH1A2_uc002aey.2_Missense_Mutation_p.R309C|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R326C|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R318C|ALDH1A2_uc002aew.2_Missense_Mutation_p.R251C	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	347					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCCACTACGCGCCTCTTGGCC	0.527000												
CSNK1G1	53944	broad.mit.edu	37	15	64496717	64496717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:64496717G>A	uc002anf.2	-	9	1402	c.922C>T	c.(922-924)CGG>TGG	p.R308W	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R308W|CSNK1G1_uc002anh.1_Missense_Mutation_p.R308W|CSNK1G1_uc002anj.2_Missense_Mutation_p.R290W	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	308	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						AAGAGGGTCCGTAAATACTCA	0.413000												
NPTN	27020	broad.mit.edu	37	15	73879916	73879916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:73879916C>T	uc002avs.2	-	4	852	c.655G>A	c.(655-657)GTA>ATA	p.V219I	NPTN_uc010bjc.2_Missense_Mutation_p.V219I|NPTN_uc002avt.2_Missense_Mutation_p.V103I|NPTN_uc002avr.2_Missense_Mutation_p.V103I|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	219	Ig-like 2.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						AAGTGATATACGCAGTGGTAT	0.473000												
C15orf59	388135	broad.mit.edu	37	15	74043456	74043456	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:74043456C>T	uc002avy.2	-	1	361	c.16G>A	c.(16-18)GCC>ACC	p.A6T		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	6										pancreas(1)	1						AGGTCCGGGGCGCCCCGAATG	0.672000												
LMAN1L	79748	broad.mit.edu	37	15	75112400	75112400	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:75112400T>C	uc002ayt.1	+	7	736	c.734T>C	c.(733-735)CTG>CCG	p.L245P	LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	245	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CATGATGTCCTGTCCTTCCTG	0.597000												
SCAMP5	192683	broad.mit.edu	37	15	75309055	75309055	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:75309055C>T	uc002azk.1	+	4	420	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	SCAMP5_uc002azl.1_Silent_p.Y86Y|SCAMP5_uc002azm.1_Silent_p.Y86Y|SCAMP5_uc002azn.1_Silent_p.Y86Y|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	86	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						CCTGCTCCTACGTCTGCTGGT	0.587000												
SH2D7	646892	broad.mit.edu	37	15	78393576	78393576	+	Silent	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:78393576C>A	uc010blb.1	+	5	981	c.981C>A	c.(979-981)ACC>ACA	p.T327T		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	327											0						TGGGGGCTACCTGGAGGCAGG	0.612000												
KIAA1199	57214	broad.mit.edu	37	15	81176682	81176682	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:81176682C>T	uc002bfw.1	+	6	1044	c.784C>T	c.(784-786)CAC>TAC	p.H262Y	KIAA1199_uc010unn.1_Missense_Mutation_p.H262Y	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	262										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						ACACTTCCTGCACCTTGGATT	0.493000												
AP3B2	8120	broad.mit.edu	37	15	83331474	83331474	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:83331474G>A	uc010uoh.1	-	22	2925	c.2748C>T	c.(2746-2748)GGC>GGT	p.G916G	AP3B2_uc010uoi.1_Silent_p.G935G|AP3B2_uc010uoj.1_Silent_p.G884G|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.G552G	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	916					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGCTGATGCCAGCAGGCA	0.572000												
ALPK3	57538	broad.mit.edu	37	15	85400935	85400935	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:85400935G>A	uc002ble.2	+	6	3739	c.3572G>A	c.(3571-3573)GGA>GAA	p.G1191E		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1191					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGCCACCGGAGGTCTGGTG	0.607000												
C15orf42	90381	broad.mit.edu	37	15	90168613	90168613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:90168613C>T	uc002boe.2	+	20	5072	c.5072C>T	c.(5071-5073)GCG>GTG	p.A1691V	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1691					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGAAGAGGGCGGTGGGCTGT	0.602000												
ANPEP	290	broad.mit.edu	37	15	90342507	90342507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:90342507C>T	uc002bop.3	-	14	2285	c.1993G>A	c.(1993-1995)GCC>ACC	p.A665T		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	665	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTTGAAGGCGTCATTAATG	0.577000												
RHBDF1	64285	broad.mit.edu	37	16	115006	115006	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:115006T>C	uc002cfl.3	-	5	156	c.8A>G	c.(7-9)GAG>GGG	p.E3G	RHBDF1_uc010uty.1_Missense_Mutation_p.E3G|RHBDF1_uc010utz.1_Missense_Mutation_p.E3G|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	3	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCTGCGGGCCTCACTCATGGT	0.592000												
METRN	79006	broad.mit.edu	37	16	767234	767234	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:767234C>T	uc002cjd.2	+	4	846	c.729C>T	c.(727-729)GGC>GGT	p.G243G	uc010bra.1_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	243											0		Hepatocellular(780;0.00335)				TGCGCTGTGGCGTCCACCCGG	0.711000												
PTX4	390667	broad.mit.edu	37	16	1536245	1536245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:1536245C>T	uc010uvf.1	-	3	1117	c.1117G>A	c.(1117-1119)GTG>ATG	p.V373M		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	378	Pentaxin.					extracellular region	metal ion binding				0						CTGCGATCCACGTGGAGCCAG	0.677000												
MAPK8IP3	23162	broad.mit.edu	37	16	1818554	1818554	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:1818554G>A	uc002cmk.2	+	31	3936	c.3816G>A	c.(3814-3816)TCG>TCA	p.S1272S	MAPK8IP3_uc002cml.2_Silent_p.S1266S|MAPK8IP3_uc010uvl.1_Silent_p.S1273S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1272					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CCCCTGCCTCGGAGGTCGAGG	0.682000												
CLDN9	9080	broad.mit.edu	37	16	3063873	3063873	+	Silent	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:3063873G>T	uc010uwo.1	+	1	1417	c.510G>T	c.(508-510)GCG>GCT	p.A170A		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	170	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GCTGGGCGGCGGCTGCACTGC	0.721000												
ADCY9	115	broad.mit.edu	37	16	4016487	4016487	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:4016487C>T	uc002cvx.2	-	11	3890	c.3351G>A	c.(3349-3351)GCG>GCA	p.A1117A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1117	Guanylate cyclase 2.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TCAGCCCTGACGCCGCCATGT	0.617000												
CLN3	1201	broad.mit.edu	37	16	28488902	28488902	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:28488902G>T	uc002dpo.2	-	15	1575	c.1252C>A	c.(1252-1254)CTG>ATG	p.L418M	uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.L340M|CLN3_uc010vcu.1_Missense_Mutation_p.L318M|CLN3_uc002dpn.2_Missense_Mutation_p.L319M|CLN3_uc002dpm.2_Missense_Mutation_p.L364M|CLN3_uc010vcv.1_Missense_Mutation_p.L394M|CLN3_uc010byd.2_Missense_Mutation_p.L321M|CLN3_uc002dpp.2_Missense_Mutation_p.L418M|CLN3_uc002dpt.1_Missense_Mutation_p.L318M|CLN3_uc002dpq.1_Missense_Mutation_p.L370M|CLN3_uc010bye.1_Missense_Mutation_p.L401M|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.L291M|CLN3_uc002dpu.1_Missense_Mutation_p.L316M	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	418	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						GAGATCCCCAGTGTGTCAGAG	0.607000												
SEZ6L2	26470	broad.mit.edu	37	16	29888645	29888645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:29888645G>A	uc002duq.3	-	11	2096	c.1856C>T	c.(1855-1857)CCG>CTG	p.P619L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.P549L|SEZ6L2_uc002dur.3_Missense_Mutation_p.P549L|SEZ6L2_uc002dus.3_Missense_Mutation_p.P505L|SEZ6L2_uc010vec.1_Missense_Mutation_p.P619L|SEZ6L2_uc010ved.1_Missense_Mutation_p.P575L	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	619	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGGCCCGGGCGGTGCCTGAAA	0.687000												
SRCAP	10847	broad.mit.edu	37	16	30723591	30723591	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:30723591G>A	uc002dze.1	+	13	2209	c.1824G>A	c.(1822-1824)ACG>ACA	p.T608T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T465T|SRCAP_uc010bzz.1_Silent_p.T178T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	608					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGGTAAAGACGCCCATTCCCC	0.493000												
SETD1A	9739	broad.mit.edu	37	16	30982823	30982823	+	Silent	SNP	C	C	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:30982823C>G	uc002ead.1	+	13	3827	c.3141C>G	c.(3139-3141)TCC>TCG	p.S1047S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1047	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						cctcctcctcctcgtcctcat	0.413000												
ABCC11	85320	broad.mit.edu	37	16	48234332	48234332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:48234332C>T	uc002eff.1	-	14	2287	c.1937G>A	c.(1936-1938)CGC>CAC	p.R646H	ABCC11_uc002efg.1_Missense_Mutation_p.R646H|ABCC11_uc002efh.1_Missense_Mutation_p.R646H|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	646	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATAGACGGCGCGGGCCAGGCT	0.587000									Cerumen_Type			
N4BP1	9683	broad.mit.edu	37	16	48577044	48577044	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:48577044C>T	uc002efp.2	-	7	2699	c.2462G>A	c.(2461-2463)AGC>AAC	p.S821N		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	821					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GAGCCAGTGGCTTGAAGGGGC	0.632000												
RBL2	5934	broad.mit.edu	37	16	53488589	53488589	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:53488589T>C	uc002ehi.3	+	8	1132	c.1014T>C	c.(1012-1014)TAT>TAC	p.Y338Y	RBL2_uc010vgv.1_Silent_p.Y264Y|RBL2_uc002ehj.2_Silent_p.Y48Y|RBL2_uc010vgw.1_Silent_p.Y122Y	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	338					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATAAGGCCTATGAGGAGTATG	0.363000												
CDH11	1009	broad.mit.edu	37	16	65006929	65006929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:65006929C>T	uc002eoi.2	-	9	1702	c.1268G>A	c.(1267-1269)CGT>CAT	p.R423H	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.R423H|CDH11_uc010vin.1_Missense_Mutation_p.R297H	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	423	Cadherin 4.|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)		GTCAGTGTGACGATCGATGGA	0.373000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
RANBP10	57610	broad.mit.edu	37	16	67762413	67762413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:67762413C>T	uc002eud.2	-	11	1470	c.1354G>A	c.(1354-1356)GAC>AAC	p.D452N	RANBP10_uc010ceo.2_Missense_Mutation_p.D223N|RANBP10_uc010vju.1_Missense_Mutation_p.D426N|RANBP10_uc010vjv.1_Missense_Mutation_p.D365N|RANBP10_uc010vjw.1_Missense_Mutation_p.D143N	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	452	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ATCTCACTGTCGCTGTGGGGA	0.587000												
TERF2	7014	broad.mit.edu	37	16	69390851	69390851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:69390851C>T	uc002exd.2	-	10	1578	c.1453G>A	c.(1453-1455)GTG>ATG	p.V485M		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	485	HTH myb-type.|H-T-H motif.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TTAATCATCACAGCTGTTCGG	0.438000												
MTSS1L	92154	broad.mit.edu	37	16	70708346	70708346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:70708346G>A	uc002ezj.2	-	11	1176	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	306	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CTGCGGTAGCGACAGGTGGAA	0.652000												
PSMD7	5713	broad.mit.edu	37	16	74339301	74339301	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:74339301C>T	uc002fcq.2	+	7	777	c.645C>T	c.(643-645)GTC>GTT	p.V215V	PSMD7_uc010vmr.1_Silent_p.V138V	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	proteasome regulatory particle	protein binding				0						TGGAAAAAGTCGCCACAGGCA	0.557000												
ADAMTS18	170692	broad.mit.edu	37	16	77353831	77353831	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:77353831C>A	uc002ffc.3	-	16	2866	c.2447G>T	c.(2446-2448)GGG>GTG	p.G816V	ADAMTS18_uc010chc.1_Missense_Mutation_p.G404V|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G512V	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AAACGTGGTCCCAGCGAAGGG	0.572000												
CDH15	1013	broad.mit.edu	37	16	89258129	89258129	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:89258129C>A	uc002fmt.2	+	10	1519	c.1442C>A	c.(1441-1443)CCT>CAT	p.P481H		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	481	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACCATGCACCTGTGCTGGCC	0.731000												
SPG7	6687	broad.mit.edu	37	16	89592837	89592837	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:89592837G>T	uc002fnj.2	+	5	740	c.719G>T	c.(718-720)AGG>ATG	p.R240M	SPG7_uc002fni.2_Missense_Mutation_p.R240M	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	240	Mitochondrial intermembrane (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCCAAGGACAGGATCCCAGTT	0.428000												
DBNDD1	79007	broad.mit.edu	37	16	90075763	90075763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:90075763G>A	uc002fqf.1	-	2	295	c.107C>T	c.(106-108)ACG>ATG	p.T36M	DBNDD1_uc002fqe.1_Missense_Mutation_p.T56M|DBNDD1_uc002fqg.1_RNA	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1)	36						cytoplasm					0		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTCCACAGGCGTGTGGCCATT	0.662000												
OR3A2	4995	broad.mit.edu	37	17	3181654	3181654	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:3181654C>A	uc002fvg.2	-	1	615	c.576G>T	c.(574-576)CAG>CAT	p.Q192H		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	192	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GCTGGAAGAGCTGTGGGAGGT	0.542000												
MINK1	50488	broad.mit.edu	37	17	4796057	4796057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:4796057G>A	uc010vsl.1	+	19	2501	c.2305G>A	c.(2305-2307)GTG>ATG	p.V769M	MINK1_uc010vsk.1_Missense_Mutation_p.V732M|MINK1_uc010vsm.1_Missense_Mutation_p.V749M|MINK1_uc010vsn.1_Missense_Mutation_p.V732M|MINK1_uc010vso.1_Missense_Mutation_p.V677M|MINK1_uc010vsp.1_Missense_Mutation_p.V222M	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	769					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						GCGGAACCGCGTGGGAGGTAT	0.677000												
PITPNM3	83394	broad.mit.edu	37	17	6367557	6367557	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:6367557T>C	uc002gdd.3	-	16	2240	c.2089A>G	c.(2089-2091)ATC>GTC	p.I697V	PITPNM3_uc010cln.2_Missense_Mutation_p.I661V|PITPNM3_uc010clm.2_Missense_Mutation_p.I180V|PITPNM3_uc002gdc.3_Missense_Mutation_p.I288V	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	697					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TTGTATGTGATGCGACCACTG	0.597000												
PITPNM3	83394	broad.mit.edu	37	17	6381912	6381912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:6381912G>T	uc002gdd.3	-	7	883	c.732C>A	c.(730-732)TAC>TAA	p.Y244*	PITPNM3_uc010cln.2_Nonsense_Mutation_p.Y208*|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	244					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGAACTCTCTGTAGACCTGGT	0.647000												
NLGN2	57555	broad.mit.edu	37	17	7320661	7320661	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7320661C>T	uc002ggt.1	+	7	2124	c.2051C>T	c.(2050-2052)GCC>GTC	p.A684V	FGF11_uc010vtw.1_5'Flank	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	684	Helical; (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				GCCGTGGGTGCCTCCCTCCTC	0.701000												
ZBTB4	57659	broad.mit.edu	37	17	7366997	7366997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7366997G>A	uc002ghc.3	-	4	1554	c.1304C>T	c.(1303-1305)CCG>CTG	p.P435L	ZBTB4_uc002ghd.3_Missense_Mutation_p.P435L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	435	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGAGCCTCCGGGGCTCCCTG	0.662000												
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
DNAH2	146754	broad.mit.edu	37	17	7674152	7674152	+	Silent	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7674152C>A	uc002giu.1	+	26	4277	c.4263C>A	c.(4261-4263)GCC>GCA	p.A1421A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1421	TPR 1.|Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGTCAAGGCCTTTGAGAAGG	0.493000												
LSMD1	84316	broad.mit.edu	37	17	7760123	7760123	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7760123C>T	uc002giz.2	-	3	403	c.304G>A	c.(304-306)GCC>ACC	p.A102T	LSMD1_uc002gja.2_Missense_Mutation_p.A150T|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank			Q9BRA0	LSMD1_HUMAN	RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;	102						cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				GGTACCATGGCCAGGCCCAGC	0.587000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYH10	4628	broad.mit.edu	37	17	8409738	8409738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:8409738G>A	uc002gll.2	-	25	3287	c.3191C>T	c.(3190-3192)ACG>ATG	p.T1064M	MYH10_uc002glm.2_Missense_Mutation_p.T1095M|MYH10_uc010cnx.2_Missense_Mutation_p.T1073M	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1064	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CAGGTCGGTCGTCTCCCCGTC	0.532000												
PIK3R6	146850	broad.mit.edu	37	17	8732080	8732080	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:8732080T>C	uc002glq.1	-	11	1357	c.1117A>G	c.(1117-1119)AAG>GAG	p.K373E	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	373					platelet activation	cytosol					0						GCACGCTTCTTGATGCCCCCT	0.687000												
DNAH9	1770	broad.mit.edu	37	17	11520904	11520904	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:11520904C>T	uc002gne.2	+	5	1149	c.1081C>T	c.(1081-1083)CTG>TTG	p.L361L		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	361	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGACTGTGCTGCTCCAGGA	0.617000												
PMP22	5376	broad.mit.edu	37	17	15134393	15134393	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:15134393C>T	uc002goj.2	-	4	373	c.324G>A	c.(322-324)CTG>CTA	p.L108L	PMP22_uc002gok.2_Silent_p.L108L|PMP22_uc002gol.2_Silent_p.L108L	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	108	Helical; (By similarity).				peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCATCACGCACAGACCTGGGG	0.622000												
TRPV2	51393	broad.mit.edu	37	17	16332204	16332204	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:16332204C>T	uc002gpy.2	+	10	1862	c.1495C>T	c.(1495-1497)CTT>TTT	p.L499F	TRPV2_uc002gpz.2_Missense_Mutation_p.L69F	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	499	Helical; (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTGCCCCTGCTTGTGTCTGC	0.582000												
MPRIP	23164	broad.mit.edu	37	17	17078646	17078646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:17078646C>T	uc002gqu.1	+	19	2685	c.2629C>T	c.(2629-2631)CGG>TGG	p.R877W	MPRIP_uc002gqv.1_Missense_Mutation_p.R877W|MPRIP_uc002gqw.1_Missense_Mutation_p.R632W|MPRIP_uc002gqx.1_Missense_Mutation_p.R1106W|MPRIP_uc002gqy.1_Missense_Mutation_p.R1106W|MPRIP_uc010cpl.1_Intron|MPRIP_uc010cpm.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	877	Interaction with PPP1R12A.|Potential.					cytoplasm|cytoskeleton	actin binding				0						CACACGGTTGCGGACGCTGCT	0.627000												
SLC5A10	125206	broad.mit.edu	37	17	18923663	18923663	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:18923663C>T	uc002guu.1	+	15	1751	c.1710C>T	c.(1708-1710)CAC>CAT	p.H570H	SLC5A10_uc002gur.1_Silent_p.H540H|SLC5A10_uc002gut.1_Silent_p.H586H|SLC5A10_uc002guv.1_Silent_p.H543H|SLC5A10_uc010vyl.1_Silent_p.H534H	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	570	Cytoplasmic (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCCAGAAACACGCCTTCTGGG	0.552000												
NLK	51701	broad.mit.edu	37	17	26449711	26449711	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:26449711A>G	uc010crj.2	+	2	753	c.541A>G	c.(541-543)AGG>GGG	p.R181G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	181	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCTTGCAAAAGGGTCTTCCG	0.398000												
FOXN1	8456	broad.mit.edu	37	17	26854350	26854350	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:26854350T>C	uc010crm.2	+	4	868	c.670T>C	c.(670-672)TAC>CAC	p.Y224H	FOXN1_uc002hbj.2_Missense_Mutation_p.Y224H	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	224					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					GCAGCATATGTACTGCTCCTC	0.587000												
GOSR1	9527	broad.mit.edu	37	17	28811743	28811743	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:28811743T>C	uc002hfe.2	+	4	329	c.303T>C	c.(301-303)AAT>AAC	p.N101N	GOSR1_uc002hfd.2_Silent_p.N99N|GOSR1_uc002hff.2_Silent_p.N36N|GOSR1_uc002hfc.1_Silent_p.N101N	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	101	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0						CCTCCTTGAATGCAGCCCTGA	0.358000												
TMEM132E	124842	broad.mit.edu	37	17	32964419	32964419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:32964419G>A	uc002hif.2	+	10	2451	c.2123G>A	c.(2122-2124)CGC>CAC	p.R708H		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	708	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		AAAACCAAACGCAAGAGTGTG	0.652000												
FBXO47	494188	broad.mit.edu	37	17	37099048	37099048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:37099048C>T	uc002hrc.2	-	9	1266	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	356											0						AAAAAGACTACGAGCCTTGCC	0.403000												
WNK4	65266	broad.mit.edu	37	17	40940150	40940150	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40940150T>C	uc002ibj.2	+	9	1887	c.1866T>C	c.(1864-1866)GCT>GCC	p.A622A	WNK4_uc010wgx.1_Silent_p.A286A|WNK4_uc002ibk.1_Silent_p.A394A|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	622					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGTTTCAGGCTTTTGCCCTAT	0.522000												
BECN1	8678	broad.mit.edu	37	17	40970864	40970864	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40970864T>G	uc002ibo.3	-	5	427	c.292A>C	c.(292-294)ACT>CCT	p.T98P	BECN1_uc010whb.1_Missense_Mutation_p.T11P|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.T98P	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	98					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCAATCAGAGTGAAGCTGTTG	0.597000												
AOC2	314	broad.mit.edu	37	17	40997723	40997723	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40997723G>T	uc002ibu.2	+	1	1115	c.1080G>T	c.(1078-1080)CAG>CAT	p.Q360H	AOC2_uc002ibt.2_Missense_Mutation_p.Q360H	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	360					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCAGTGTCCAGGAGTGTGTAT	0.527000												
ARL4D	379	broad.mit.edu	37	17	41477611	41477611	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:41477611G>C	uc002idt.2	+	2	692	c.511G>C	c.(511-513)GTG>CTG	p.V171L		NM_001661	NP_001652	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	171					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGCAGCGCTGTGGACGGTCT	0.632000												
DHX8	1659	broad.mit.edu	37	17	41568548	41568548	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:41568548C>A	uc002idu.1	+	4	396	c.323C>A	c.(322-324)CCT>CAT	p.P108H	DHX8_uc010wif.1_Missense_Mutation_p.P17H|DHX8_uc010wig.1_Missense_Mutation_p.P108H	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	108						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTTGTTAAACCTAAAACAGAA	0.328000												
FMNL1	752	broad.mit.edu	37	17	43314678	43314678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:43314678G>A	uc002iin.2	+	8	954	c.754G>A	c.(754-756)GCC>ACC	p.A252T		NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	252	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GAACCACCCAGCCTGTGTCAA	0.403000												
FAM117A	81558	broad.mit.edu	37	17	47799955	47799955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:47799955G>A	uc002ipk.2	-	3	437	c.368C>T	c.(367-369)ACG>ATG	p.T123M	FAM117A_uc010wlz.1_Translation_Start_Site	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	123										ovary(1)	1						GGACAGGGGCGTCTGCAGGGA	0.577000												
ACSF2	80221	broad.mit.edu	37	17	48539865	48539865	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:48539865C>T	uc002iqu.2	+	6	815	c.711C>T	c.(709-711)AGC>AGT	p.S237S	ACSF2_uc010wml.1_Silent_p.S194S|ACSF2_uc010wmm.1_Silent_p.S262S|ACSF2_uc010wmn.1_Silent_p.S224S|ACSF2_uc010wmo.1_Silent_p.S77S	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	237					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGGCTGGCAGCACACGGCAGC	0.612000												
BZRAP1	9256	broad.mit.edu	37	17	56389796	56389796	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:56389796G>A	uc002ivx.3	-	17	3257	c.2386C>T	c.(2386-2388)CGT>TGT	p.R796C	BZRAP1_uc010dcs.2_Missense_Mutation_p.R736C|BZRAP1_uc010wnt.1_Missense_Mutation_p.R796C	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	796	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCACCAGACGGCGGGGGTAA	0.662000												
CASKIN2	57513	broad.mit.edu	37	17	73498994	73498994	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:73498994C>T	uc002joc.2	-	18	2711	c.2161G>A	c.(2161-2163)GGT>AGT	p.G721S	CASKIN2_uc010wsc.1_Missense_Mutation_p.G639S	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	721	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGATCTCCACCGCTGGGCTGT	0.677000												
TBCD	6904	broad.mit.edu	37	17	80714084	80714084	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:80714084G>A	uc002kfz.2	+	2	358	c.228G>A	c.(226-228)CCG>CCA	p.P76P	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Silent_p.P76P	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	76					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGTTGGACCCGCACCTTGGTA	0.433000												
USP14	9097	broad.mit.edu	37	18	211160	211160	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:211160A>C	uc002kkf.1	+	16	1577	c.1361A>C	c.(1360-1362)AAA>ACA	p.K454T	USP14_uc002kkg.1_Missense_Mutation_p.K419T|USP14_uc010wyr.1_Missense_Mutation_p.K443T	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	454					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GATGATGACAAAGTCAGCATC	0.403000												
FAM59A	64762	broad.mit.edu	37	18	29867460	29867460	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:29867460T>C	uc002kxl.2	-	4	1156	c.1100A>G	c.(1099-1101)CAC>CGC	p.H367R	FAM59A_uc002kxk.1_Missense_Mutation_p.H367R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	367										ovary(1)|skin(1)	2						ATTGGGCACGTGGTTGTGGCC	0.552000												
SETBP1	26040	broad.mit.edu	37	18	42531918	42531918	+	Silent	SNP	T	T	C	rs36110095		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:42531918T>C	uc010dni.2	+	4	2909	c.2613T>C	c.(2611-2613)ATT>ATC	p.I871I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	871			I -> T (in SGMFS).			nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACAGCGGCATTGGGACAGACA	0.567000									Schinzel-Giedion_syndrome			
KIAA0427	9811	broad.mit.edu	37	18	46385731	46385731	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:46385731G>A	uc002ldc.2	+	12	1883	c.1598G>A	c.(1597-1599)CGG>CAG	p.R533Q	KIAA0427_uc002ldd.2_Missense_Mutation_p.R535Q|KIAA0427_uc002lde.3_Missense_Mutation_p.R162Q	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	533	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AGTACAGGCCGGCTGCTGGAG	0.632000												
DCC	1630	broad.mit.edu	37	18	50278508	50278508	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:50278508T>C	uc002lfe.1	+	2	763	c.176T>C	c.(175-177)CTC>CCC	p.L59P	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	59	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATGTCCTCCTCGACTGCTCC	0.507000												
ZNF407	55628	broad.mit.edu	37	18	72776341	72776341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:72776341G>A	uc002llw.2	+	8	6721	c.6664G>A	c.(6664-6666)GTG>ATG	p.V2222M		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	2222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTGGCCAGCGTGGTCATCTA	0.662000												
ZNF236	7776	broad.mit.edu	37	18	74649233	74649233	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:74649233G>A	uc002lmi.2	+	26	4908	c.4710G>A	c.(4708-4710)ACG>ACA	p.T1570T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1570					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCACGCTGACGCTGGCCGATA	0.577000												
HCN2	610	broad.mit.edu	37	19	605189	605189	+	Silent	SNP	G	G	A	rs139997813	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:605189G>A	uc002lpe.2	+	3	1238	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	395	Extracellular (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACTTCCCGCGCAACTGCT	0.652000												
ELANE	1991	broad.mit.edu	37	19	852928	852928	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:852928G>A	uc002lqb.2	+	2	158	c.120G>A	c.(118-120)GCG>GCA	p.A40A		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	40	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCCCCACGCGTGGCCCTTCA	0.716000									Kostmann_syndrome			
LMNB2	84823	broad.mit.edu	37	19	2435142	2435142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:2435142C>T	uc002lvy.2	-	5	739	c.652G>A	c.(652-654)GAG>AAG	p.E218K	LMNB2_uc002lwa.1_Missense_Mutation_p.E238K	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	218	Rod.|Linker 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		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)		AGGCGCCGCTCGTGCCGCCGC	0.687000												
DPP9	91039	broad.mit.edu	37	19	4704312	4704312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:4704312G>A	uc002mba.2	-	6	689	c.431C>T	c.(430-432)ACG>ATG	p.T144M	DPP9_uc002mbb.2_Missense_Mutation_p.T144M|DPP9_uc002mbc.2_Missense_Mutation_p.T144M	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	115					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATGGTGGGGCGTGGCCTGGAA	0.647000												
UHRF1	29128	broad.mit.edu	37	19	4941597	4941597	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:4941597G>A	uc002mbo.2	+	6	1011	c.843G>A	c.(841-843)GAG>GAA	p.E281E	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.E294E	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	281					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCAAGATTGAGCGGCCGGGTG	0.602000												
XAB2	56949	broad.mit.edu	37	19	7690872	7690872	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:7690872T>C	uc002mgx.2	-	6	742	c.716A>G	c.(715-717)AAT>AGT	p.N239S		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	239	HAT 7.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GGCGTCCACATTGAGGGACTG	0.627000								Direct_reversal_of_damage|NER				
PCP2	126006	broad.mit.edu	37	19	7697386	7697386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:7697386C>T	uc002mgz.2	-	3	411	c.184G>A	c.(184-186)GAG>AAG	p.E62K	XAB2_uc002mgx.2_5'Flank	NM_174895	NP_777555	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	62					signal transduction		GTPase activator activity				0						CTGTCCATCTCGGGGGTGGGG	0.657000												
OR7D4	125958	broad.mit.edu	37	19	9325158	9325158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:9325158G>A	uc002mla.1	-	1	356	c.356C>T	c.(355-357)GCC>GTC	p.A119V		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CCGGTCATAGGCCATCACGGC	0.517000												
TNPO2	30000	broad.mit.edu	37	19	12821569	12821569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:12821569G>A	uc002muo.2	-	12	1321	c.1136C>T	c.(1135-1137)GCA>GTA	p.A379V	TNPO2_uc002mup.2_Missense_Mutation_p.A471V|TNPO2_uc002muq.2_Missense_Mutation_p.A379V|TNPO2_uc002mur.2_Missense_Mutation_p.A379V	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	379					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GACGTCCAGTGCAGCCGCTGA	0.647000												
EMR3	84658	broad.mit.edu	37	19	14736376	14736376	+	Silent	SNP	G	G	A	rs147270469	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:14736376G>A	uc002mzi.3	-	15	1996	c.1848C>T	c.(1846-1848)ATC>ATT	p.I616I	EMR3_uc010dzp.2_Silent_p.I564I|EMR3_uc010xnv.1_Silent_p.I490I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	616	Cytoplasmic (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TTGATTTTACGATCTCTCTAA	0.403000												
CPAMD8	27151	broad.mit.edu	37	19	17015120	17015121	+	Missense_Mutation	DNP	CA	CA	GC			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:17015120_17015121CA>GC	uc002nfb.2	-	32	4339_4340	c.4307_4308TG>GC	c.(4306-4308)CTG>CGC	p.L1436R	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1389						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CGTCACCCAGCAGAGTGTAGGT	0.629000												
NCAN	1463	broad.mit.edu	37	19	19338902	19338902	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:19338902A>G	uc002nlz.2	+	8	2572	c.2473A>G	c.(2473-2475)ACT>GCT	p.T825A	NCAN_uc010ecc.1_Missense_Mutation_p.T389A	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	825					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGAAGGACCCACTGTGAATCC	0.557000												
WTIP	126374	broad.mit.edu	37	19	34991049	34991049	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:34991049C>T	uc002nvm.2	+	8	1168	c.1168C>T	c.(1168-1170)CTG>TTG	p.L390L		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCTGCAGCTGAGCGGGGA	0.682000												
MAG	4099	broad.mit.edu	37	19	35793406	35793406	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:35793406G>A	uc002nyy.1	+	7	1175	c.1026G>A	c.(1024-1026)ACG>ACA	p.T342T	MAG_uc002nyx.1_Silent_p.T342T|MAG_uc010eds.1_Silent_p.T317T|MAG_uc002nyz.1_Silent_p.T342T	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	342	Ig-like C2-type 3.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577000												
TMEM147	10430	broad.mit.edu	37	19	36038232	36038232	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36038232C>T	uc002oaj.1	+	7	655	c.558C>T	c.(556-558)TTC>TTT	p.F186F	uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.F137F|TMEM147_uc002oak.1_Silent_p.F141F	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	186	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGGACCTTCGTCCACCTCT	0.572000												
WDR62	284403	broad.mit.edu	37	19	36558338	36558338	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36558338A>G	uc002odc.2	+	6	783	c.692A>G	c.(691-693)GAG>GGG	p.E231G	WDR62_uc002odd.2_Missense_Mutation_p.E231G|WDR62_uc002odb.2_Missense_Mutation_p.E231G	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	231	WD 3.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCTCCACTGAGACAAAGGTG	0.532000												
WDR62	284403	broad.mit.edu	37	19	36595830	36595830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36595830C>T	uc002odc.2	+	32	4548	c.4457C>T	c.(4456-4458)CCG>CTG	p.P1486L	WDR62_uc002odd.2_Missense_Mutation_p.P1491L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1486					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGTCCCCACCGACGCTGTAC	0.687000												
ZNF571	51276	broad.mit.edu	37	19	38055639	38055639	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:38055639C>A	uc002ogt.2	-	4	1792	c.1691G>T	c.(1690-1692)GGG>GTG	p.G564V	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.G564V	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	564	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGGCCCTCCCACATTCCTT	0.438000												
RYR1	6261	broad.mit.edu	37	19	38990408	38990408	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:38990408C>T	uc002oit.2	+	44	7291	c.7161C>T	c.(7159-7161)TCC>TCT	p.S2387S	RYR1_uc002oiu.2_Silent_p.S2387S|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2387	Cytoplasmic.|6 X approximate repeats.				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)	TCCGCATCTCCGAGGACCCTG	0.706000												
SARS2	54938	broad.mit.edu	37	19	39410406	39410406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:39410406C>T	uc002oka.2	-	7	915	c.755G>A	c.(754-756)CGC>CAC	p.R252H	SARS2_uc002ojz.2_Missense_Mutation_p.R62H|SARS2_uc010xup.1_Missense_Mutation_p.R254H|SARS2_uc002okb.2_Missense_Mutation_p.R252H|SARS2_uc010xuq.1_Missense_Mutation_p.R252H|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	252					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATACCCGGCGGAGAAGCTT	0.602000												
NCCRP1	342897	broad.mit.edu	37	19	39691287	39691287	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:39691287G>A	uc002okq.1	+	6	738	c.719G>A	c.(718-720)GGT>GAT	p.G240D		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	240	FBA.				protein catabolic process					ovary(1)	1						TATGGTCCCGGTGTGCGCTTT	0.622000												
IL28B	282617	broad.mit.edu	37	19	39734754	39734754	+	Missense_Mutation	SNP	G	G	A	rs145428712	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:39734754G>A	uc010xut.1	-	3	306	c.302C>T	c.(301-303)ACG>ATG	p.T101M	IL28B_uc010xuu.1_Missense_Mutation_p.T101M	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	101					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AACCTTCAGCGTCAGGGCCAG	0.483000												
C19orf47	126526	broad.mit.edu	37	19	40842077	40842077	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:40842077G>A	uc002oni.3	-	4	274	c.273C>T	c.(271-273)GGC>GGT	p.G91G	C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_Silent_p.G24G	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	91										ovary(1)|skin(1)	2			Lung(22;0.000636)			CCACGGTCACGCCCAGCTCAT	0.577000												
SPTBN4	57731	broad.mit.edu	37	19	40996063	40996063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:40996063G>A	uc002ony.2	+	4	489	c.403G>A	c.(403-405)GTG>ATG	p.V135M	SPTBN4_uc002onx.2_Missense_Mutation_p.V135M|SPTBN4_uc002onz.2_Missense_Mutation_p.V135M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	135	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCAGCGCGTGCACCTGGA	0.647000												
CIC	23152	broad.mit.edu	37	19	42795129	42795129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:42795129G>A	uc002otf.1	+	10	2249	c.2209G>A	c.(2209-2211)GCC>ACC	p.A737T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	737	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.A737A(1)		ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTCGGCAGCAGCCACCTCACC	0.647000			T	DUX4	soft tissue sarcoma							
ZNF285	26974	broad.mit.edu	37	19	44892073	44892073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:44892073C>T	uc002ozd.3	-	4	421	c.334G>A	c.(334-336)GCA>ACA	p.A112T	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.A119T	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						GAAATGCCTGCCCACTCTTCA	0.398000												
IGFL3	388555	broad.mit.edu	37	19	46627291	46627291	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:46627291G>A	uc002pea.1	-	3	227	c.202C>T	c.(202-204)CGC>TGC	p.R68C		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3 precursor	68						extracellular region	protein binding				0		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GAGCCACAGCGGCGGGTCTCC	0.557000												
ZC3H4	23211	broad.mit.edu	37	19	47570582	47570582	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:47570582G>A	uc002pga.3	-	15	2981	c.2943C>T	c.(2941-2943)CCC>CCT	p.P981P	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	981							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCAGGTCCTCGGGATTCCAGA	0.682000												
TRPM4	54795	broad.mit.edu	37	19	49685882	49685882	+	Silent	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:49685882G>T	uc002pmw.2	+	11	1383	c.1311G>T	c.(1309-1311)CGG>CGT	p.R437R	TRPM4_uc010emu.2_Silent_p.R437R|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.R263R|TRPM4_uc010emv.2_Silent_p.R322R|TRPM4_uc010yal.1_Silent_p.R83R|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	437	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGAATGACCGGCCTGAGTTCG	0.597000												
SLC6A16	28968	broad.mit.edu	37	19	49794007	49794007	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:49794007G>A	uc002pmz.2	-	11	2030	c.1796C>T	c.(1795-1797)ACG>ATG	p.T599M	SLC6A16_uc002pna.2_Missense_Mutation_p.T599M	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	599						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAACAGGATCGTCAGGTCTGC	0.562000												
IL4I1	259307	broad.mit.edu	37	19	50393802	50393802	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:50393802G>A	uc002pqt.1	-	8	907	c.829C>T	c.(829-831)CTG>TTG	p.L277L	IL4I1_uc002pqv.1_Silent_p.L286L|IL4I1_uc010eno.1_Silent_p.L285L|IL4I1_uc002pqw.1_Silent_p.L285L|IL4I1_uc002pqu.1_Silent_p.L299L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	277						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGCCCGGACAGCGAGCTCAGC	0.716000												
LRRC4B	94030	broad.mit.edu	37	19	51021562	51021562	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:51021562C>T	uc002pss.2	-	3	1545	c.1408G>A	c.(1408-1410)GGC>AGC	p.G470S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	470	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		cccccagggccgcccccgccg	0.418000												
SHANK1	50944	broad.mit.edu	37	19	51219975	51219975	+	Missense_Mutation	SNP	C	C	T	rs150390491		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:51219975C>T	uc002psx.1	-	1	221	c.202G>A	c.(202-204)GCC>ACC	p.A68T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	68					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGAAGTGGGCGTCGTCTGGG	0.672000												
KLK14	43847	broad.mit.edu	37	19	51582715	51582715	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:51582715T>G	uc002pvs.1	-	5	724	c.505A>C	c.(505-507)AGC>CGC	p.S169R		NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	kallikrein 14 preproprotein	169	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			skin(1)	1		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCGATGGGGCTGGATATAGTT	0.398000												
LILRB5	10990	broad.mit.edu	37	19	54760565	54760565	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:54760565A>C	uc002qex.2	-	3	253	c.142T>G	c.(142-144)TGG>GGG	p.W48G	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.W48G|LILRB5_uc002qey.2_Missense_Mutation_p.W48G|LILRB5_uc002qez.2_Missense_Mutation_p.W48G|LILRB5_uc002qfa.1_Missense_Mutation_p.W38G|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	48	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACACCAGAGGGTCACG	0.627000												
ZNF582	147948	broad.mit.edu	37	19	56896019	56896019	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:56896019T>G	uc002qmz.1	-	5	926	c.767A>C	c.(766-768)GAA>GCA	p.E256A	ZNF582_uc002qmy.2_Missense_Mutation_p.E287A	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	256	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATCTTTACATTCATACGGTTT	0.408000												
ZBTB45	84878	broad.mit.edu	37	19	59028872	59028872	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:59028872A>T	uc002qtd.2	-	2	461	c.169T>A	c.(169-171)TTC>ATC	p.F57I	ZBTB45_uc002qte.2_Missense_Mutation_p.F57I|ZBTB45_uc002qtf.2_Missense_Mutation_p.F57I	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCTTGGAAGAAGGGTGAGCCG	0.637000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMC6	79677	broad.mit.edu	37	2	17847726	17847726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:17847726C>T	uc002rco.2	-	27	3418	c.3122G>A	c.(3121-3123)CGT>CAT	p.R1041H	SMC6_uc010exo.2_Missense_Mutation_p.R1041H|SMC6_uc002rcn.2_Missense_Mutation_p.R1041H	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	1041					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGTCTAAAACGCTGGGAATC	0.348000												
C2orf43	60526	broad.mit.edu	37	2	20990057	20990057	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:20990057C>T	uc002rec.2	-	3	289	c.256G>A	c.(256-258)GCG>ACG	p.A86T	C2orf43_uc002rea.1_Missense_Mutation_p.A86T|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86T|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	86											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCAACGCATGCCCAGCA	0.423000												
C2orf43	60526	broad.mit.edu	37	2	21001136	21001136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:21001136G>A	uc002rec.2	-	2	121	c.88C>T	c.(88-90)CCC>TCC	p.P30S	C2orf43_uc002rea.1_Missense_Mutation_p.P30S|C2orf43_uc002reb.1_Intron|C2orf43_uc010yka.1_Missense_Mutation_p.P30S|C2orf43_uc010ykb.1_Intron|C2orf43_uc010ykc.1_Missense_Mutation_p.P30S|C2orf43_uc010ykd.1_Missense_Mutation_p.P30S|C2orf43_uc010yke.1_Missense_Mutation_p.P30S|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	30											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTCCAGGGCCCACATTTT	0.433000												
KIF3C	3797	broad.mit.edu	37	2	26174773	26174773	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:26174773A>G	uc002rgu.2	-	5	2548	c.1891T>C	c.(1891-1893)TAC>CAC	p.Y631H	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.Y631H	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	631	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGATTAGGTACCTGGGAGCA	0.522000												
IFT172	26160	broad.mit.edu	37	2	27695182	27695182	+	Missense_Mutation	SNP	G	G	A	rs143520040		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:27695182G>A	uc002rku.2	-	15	1510	c.1459C>T	c.(1459-1461)CGT>TGT	p.R487C	IFT172_uc002rkw.2_Missense_Mutation_p.R487C|IFT172_uc010yls.1_Missense_Mutation_p.R466C|IFT172_uc010ezc.2_Missense_Mutation_p.R487C|IFT172_uc002rkv.2_Missense_Mutation_p.R461C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	487	WD 8.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAATCCACACGGCTCTCATGG	0.478000												
GALNT14	79623	broad.mit.edu	37	2	31154985	31154985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:31154985C>T	uc002rnr.2	-	10	1626	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	GALNT14_uc002rnq.2_Missense_Mutation_p.R316Q|GALNT14_uc002rns.2_Missense_Mutation_p.R341Q|GALNT14_uc010ymr.1_Missense_Mutation_p.R301Q|GALNT14_uc010ezo.1_Missense_Mutation_p.R303Q|GALNT14_uc010ezp.1_3'UTR	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	336	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTGCTTCTTCCGGAAGACGTG	0.592000												
RASGRP3	25780	broad.mit.edu	37	2	33783395	33783395	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:33783395T>C	uc002rox.2	+	17	2324	c.1697T>C	c.(1696-1698)CTG>CCG	p.L566P	RASGRP3_uc010ync.1_Missense_Mutation_p.L566P|RASGRP3_uc002roy.2_Missense_Mutation_p.L565P	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	566					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					AGCCCCTCGCTGCCCCCAGGT	0.577000												
OXER1	165140	broad.mit.edu	37	2	42990108	42990108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:42990108T>C	uc002rss.2	-	1	1294	c.1212A>G	c.(1210-1212)ATA>ATG	p.I404M		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	404	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						TCAGCTTCCCTATGGCCTCCG	0.677000												
GPR75	10936	broad.mit.edu	37	2	54081206	54081206	+	Missense_Mutation	SNP	G	G	A	rs143781055		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:54081206G>A	uc002rxo.3	-	2	959	c.688C>T	c.(688-690)CGG>TGG	p.R230W	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	230	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCGTTCTTCCGCAGGGTCTGA	0.522000												
USP34	9736	broad.mit.edu	37	2	61416142	61416142	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:61416142T>C	uc002sbe.2	-	79	9958	c.9936A>G	c.(9934-9936)CTA>CTG	p.L3312L	USP34_uc002sbd.2_Silent_p.L114L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3312					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GAGTTGGAATTAGAGCTGGGT	0.423000												
C2orf42	54980	broad.mit.edu	37	2	70392254	70392254	+	Silent	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:70392254C>A	uc002sgh.2	-	8	1651	c.1323G>T	c.(1321-1323)CTG>CTT	p.L441L		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	441											0						GTTTAACTTGCAGGATATTAG	0.408000												
C2orf42	54980	broad.mit.edu	37	2	70408792	70408792	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:70408792T>C	uc002sgh.2	-	3	654	c.326A>G	c.(325-327)CAG>CGG	p.Q109R		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	109											0						AGAGCTCAGCTGAGTGATGAT	0.557000												
DYSF	8291	broad.mit.edu	37	2	71766292	71766292	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:71766292G>A	uc002sie.2	+	16	1779	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	DYSF_uc010feg.2_Missense_Mutation_p.R499H|DYSF_uc010feh.2_Missense_Mutation_p.R468H|DYSF_uc002sig.3_Missense_Mutation_p.R468H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R468H|DYSF_uc010fef.2_Missense_Mutation_p.R499H|DYSF_uc010fei.2_Missense_Mutation_p.R499H|DYSF_uc010fek.2_Missense_Mutation_p.R500H|DYSF_uc010fej.2_Missense_Mutation_p.R469H|DYSF_uc010fel.2_Missense_Mutation_p.R469H|DYSF_uc010feo.2_Missense_Mutation_p.R500H|DYSF_uc010fem.2_Missense_Mutation_p.R469H|DYSF_uc010fen.2_Missense_Mutation_p.R500H|DYSF_uc002sif.2_Missense_Mutation_p.R469H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	468	Cytoplasmic (Potential).|C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TCTAGGGACCGCCTGACTCAC	0.552000												
KDM3A	55818	broad.mit.edu	37	2	86683981	86683981	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:86683981C>T	uc002sri.3	+	7	1062	c.735C>T	c.(733-735)CAC>CAT	p.H245H	KDM3A_uc010ytj.1_Silent_p.H245H|KDM3A_uc010ytk.1_Silent_p.H193H	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	245					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						AAGTTGTACACGATAACCTTG	0.353000												
SULT1C4	27233	broad.mit.edu	37	2	108994703	108994703	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:108994703G>A	uc002tea.1	+	1	283	c.-90G>A	c.(-92--88)TGGTG>TGATG		SULT1C4_uc002tdz.2_Translation_Start_Site|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Translation_Start_Site	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TGGTAGTGTGGTGGATAGAGT	0.522000												
TMEM87B	84910	broad.mit.edu	37	2	112832491	112832491	+	Silent	SNP	T	T	C	rs141654814		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:112832491T>C	uc002thm.2	+	5	822	c.453T>C	c.(451-453)AAT>AAC	p.N151N	TMEM87B_uc010fkg.2_Intron|TMEM87B_uc010fkh.2_Intron	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	151						integral to membrane					0						TTTTCCAGAATAAAGAACTAA	0.259000												
TMEM177	80775	broad.mit.edu	37	2	120438597	120438597	+	Silent	SNP	G	G	A	rs116090839	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:120438597G>A	uc010flg.1	+	2	641	c.168G>A	c.(166-168)CCG>CCA	p.P56P	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.P56P|TMEM177_uc002tmd.2_Silent_p.P56P|TMEM177_uc010flh.2_Silent_p.P56P	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	56						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					AGCCAGCTCCGCTCCCTCCAC	0.582000												
TUBA3D	113457	broad.mit.edu	37	2	132237023	132237023	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:132237023C>T	uc002tsu.3	+	3	476	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	123					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCGGATCCGCAAACTGGTAA	0.483000												
R3HDM1	23518	broad.mit.edu	37	2	136393550	136393550	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:136393550T>C	uc002tuo.2	+	10	1159	c.789T>C	c.(787-789)TTT>TTC	p.F263F	R3HDM1_uc010fni.2_Silent_p.F261F|R3HDM1_uc002tup.2_Silent_p.F207F|R3HDM1_uc010zbh.1_Silent_p.F95F	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	263							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACTCTAGCTTTGACAAAGATG	0.313000												
MCM6	4175	broad.mit.edu	37	2	136602247	136602247	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:136602247G>A	uc002tuw.2	-	16	2293	c.2217C>T	c.(2215-2217)GAC>GAT	p.D739D		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	739					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATGCTGACTCGTCCTCTTCTG	0.368000												
RIF1	55183	broad.mit.edu	37	2	152324577	152324577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:152324577C>T	uc002txm.2	+	31	6794	c.6664C>T	c.(6664-6666)CGG>TGG	p.R2222W	RIF1_uc002txl.2_Missense_Mutation_p.R2222W|RIF1_uc002txn.2_Missense_Mutation_p.R2222W|RIF1_uc002txo.2_Missense_Mutation_p.R2222W|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2222	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATTGATAGACGGTGCTCTAT	0.393000												
NR4A2	4929	broad.mit.edu	37	2	157186441	157186441	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:157186441C>T	uc002tyz.3	-	3	680	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	NR4A2_uc002tyx.3_Silent_p.Q23Q|NR4A2_uc010zcf.1_Silent_p.Q86Q|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	86	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGGAGGACTGCTGTCCGGACA	0.557000												
PLA2R1	22925	broad.mit.edu	37	2	160798419	160798419	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:160798419T>C	uc002ube.1	-	30	4469	c.4262A>G	c.(4261-4263)TAC>TGC	p.Y1421C	PLA2R1_uc010zcp.1_Missense_Mutation_p.Y1419C	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1421	Cytoplasmic (Potential).				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						GTTATGCTTGTATATGCAGAA	0.408000												
XIRP2	129446	broad.mit.edu	37	2	168100214	168100214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:168100214G>A	uc002udx.2	+	8	2330	c.2312G>A	c.(2311-2313)CGG>CAG	p.R771Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R596Q|XIRP2_uc010fpq.2_Missense_Mutation_p.R549Q|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	596	Xin 7.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAACAGCACGGTGGATGTTT	0.393000												
LRP2	4036	broad.mit.edu	37	2	170059292	170059292	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:170059292C>A	uc002ues.2	-	43	8396	c.8183G>T	c.(8182-8184)GGC>GTC	p.G2728V		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2728	LDL-receptor class A 16.|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)	CTCATCACTGCCATCCCCACA	0.498000												
TTN	7273	broad.mit.edu	37	2	179395182	179395182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:179395182G>A	uc010zfg.1	-	307	98680	c.98456C>T	c.(98455-98457)TCA>TTA	p.S32819L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26514L|TTN_uc010zfi.1_Missense_Mutation_p.S26447L|TTN_uc010zfj.1_Missense_Mutation_p.S26322L|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33746							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)			TGATATTTTTGATACCTTCTC	0.373000												
TTN	7273	broad.mit.edu	37	2	179580341	179580341	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:179580341G>A	uc010zfg.1	-	86	22292	c.22068C>T	c.(22066-22068)TTC>TTT	p.F7356F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4017F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8283							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)			CCGAGTCAACGAATGACATTC	0.463000												
TTN	7273	broad.mit.edu	37	2	179667001	179667001	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:179667001G>A	uc002und.2	-	3	384	c.159C>T	c.(157-159)GGC>GGT	p.G53G	TTN_uc010zfg.1_Silent_p.G53G|TTN_uc010zfh.1_Silent_p.G53G|TTN_uc010zfi.1_Silent_p.G53G|TTN_uc010zfj.1_Silent_p.G53G|TTN_uc002unb.2_Silent_p.G53G			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	53							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)			AGATCTGCACGCCGGGCAGAG	0.517000												
SPATS2L	26010	broad.mit.edu	37	2	201284108	201284108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:201284108G>A	uc002uvn.3	+	6	686	c.334G>A	c.(334-336)GAG>AAG	p.E112K	SPATS2L_uc010fst.2_Missense_Mutation_p.E112K|SPATS2L_uc002uvo.3_Missense_Mutation_p.E52K|SPATS2L_uc002uvp.3_Missense_Mutation_p.E112K|SPATS2L_uc002uvq.3_Missense_Mutation_p.E112K|SPATS2L_uc002uvr.3_Missense_Mutation_p.E112K|SPATS2L_uc010zhc.1_Missense_Mutation_p.E142K	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	112						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						GAATGGCTGCGAGAAGGACAG	0.527000												
CASP8	841	broad.mit.edu	37	2	202131514	202131514	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:202131514G>T	uc002uxr.1	+	3	514	c.305G>T	c.(304-306)AGG>ATG	p.R102M	CASP8_uc010ftc.1_Missense_Mutation_p.R102M|CASP8_uc002uxo.1_Missense_Mutation_p.R102M|CASP8_uc002uxp.1_Missense_Mutation_p.R102M|CASP8_uc002uxq.1_Missense_Mutation_p.R102M|CASP8_uc002uxs.1_Missense_Mutation_p.R102M|CASP8_uc002uxt.1_Missense_Mutation_p.R161M|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.R102M|CASP8_uc002uxw.1_Missense_Mutation_p.R102M|CASP8_uc002uxy.1_Missense_Mutation_p.R102M|CASP8_uc002uxx.1_Missense_Mutation_p.R102M|CASP8_uc010ftf.2_Missense_Mutation_p.R102M	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	102	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TCTGCCTACAGGTGGGTGGAA	0.493000										HNSCC(4;0.00038)		
IHH	3549	broad.mit.edu	37	2	219920518	219920518	+	Missense_Mutation	SNP	G	G	A	rs142245478		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:219920518G>A	uc002vjo.1	-	3	647	c.647C>T	c.(646-648)GCG>GTG	p.A216V		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	216					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCACACGCGCCCCACTCTC	0.657000												
SPEG	10290	broad.mit.edu	37	2	220344783	220344783	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:220344783T>C	uc010fwg.2	+	25	5263	c.5263T>C	c.(5263-5265)TAC>CAC	p.Y1755H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1755	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGAGCCCCAGTACTGCCAGTA	0.592000												
OBSL1	23363	broad.mit.edu	37	2	220420875	220420875	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:220420875G>A	uc010fwk.2	-	14	4533	c.4476C>T	c.(4474-4476)CAC>CAT	p.H1492H	OBSL1_uc002vmh.1_Silent_p.H391H|OBSL1_uc010zli.1_Silent_p.H299H|OBSL1_uc010fwl.1_Silent_p.H967H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1492	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGCGAGAGTCGTGGGGCAGGG	0.677000												
MOGAT1	116255	broad.mit.edu	37	2	223553100	223553100	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:223553100A>G	uc010fws.1	+	2	180	c.132A>G	c.(130-132)ATA>ATG	p.I44M	MOGAT1_uc010fwt.1_Missense_Mutation_p.I4M	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	44	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGCTGATCATACACAACTATT	0.443000												
ANO7	50636	broad.mit.edu	37	2	242129505	242129505	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:242129505G>T	uc002wax.2	+	2	292	c.189G>T	c.(187-189)GAG>GAT	p.E63D	ANO7_uc002waw.2_Missense_Mutation_p.E63D	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	63	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CCCAGGAAGAGGACAGCACCG	0.672000												
CDS2	8760	broad.mit.edu	37	20	5165505	5165505	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:5165505T>C	uc002wls.2	+	8	930	c.673T>C	c.(673-675)TTC>CTC	p.F225L	CDS2_uc002wlr.1_Missense_Mutation_p.F147L|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.F170L|CDS2_uc010zqu.1_Missense_Mutation_p.F105L|CDS2_uc002wlv.2_Missense_Mutation_p.F127L|CDS2_uc010zqv.1_Missense_Mutation_p.F46L	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	225	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						CATTTCTAGGTTCATTGTCCC	0.403000												
ANKRD5	63926	broad.mit.edu	37	20	10033880	10033880	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:10033880C>A	uc002wno.2	+	9	2384	c.1991C>A	c.(1990-1992)CCT>CAT	p.P664H	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P664H|ANKRD5_uc010gbz.2_Missense_Mutation_p.P475H	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	664							calcium ion binding			ovary(1)|breast(1)	2						GGCAAGACACCTCCTATACTG	0.353000												
ANKRD5	63926	broad.mit.edu	37	20	10036224	10036224	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:10036224G>T	uc002wno.2	+	11	2640	c.2247G>T	c.(2245-2247)GAG>GAT	p.E749D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.E749D|ANKRD5_uc010gbz.2_Missense_Mutation_p.E560D	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	749							calcium ion binding			ovary(1)|breast(1)	2						TTACACATGAGGTGGACTTCG	0.448000												
MKKS	8195	broad.mit.edu	37	20	10394237	10394237	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:10394237G>A	uc002wnt.1	-	3	813	c.-74C>T	c.(-76--72)AACGT>AATGT		MKKS_uc002wnu.1_Translation_Start_Site|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein						brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						GCATTATCACGTTTTAACATT	0.299000									Bardet-Biedl_syndrome			
C20orf134	170487	broad.mit.edu	37	20	32255583	32255583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:32255583G>A	uc002wzt.2	+	1	1280	c.280G>A	c.(280-282)GAC>AAC	p.D94N	NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN	hypothetical protein LOC170487	94										pancreas(1)	1						CTTCGAGGGCGACCTCCGCGA	0.672000												
DLGAP4	22839	broad.mit.edu	37	20	35060141	35060141	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:35060141C>T	uc002xff.2	+	3	456	c.21C>T	c.(19-21)AGC>AGT	p.S7S	DLGAP4_uc010zvp.1_Silent_p.S7S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	7					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCGGTGACAGCCGCCCCCGCC	0.706000												
ZNF334	55713	broad.mit.edu	37	20	45130805	45130805	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:45130805G>A	uc002xsc.2	-	5	1357	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A	ZNF334_uc002xsa.2_Silent_p.A414A|ZNF334_uc002xsb.2_Silent_p.A353A|ZNF334_uc002xsd.2_Silent_p.A353A|ZNF334_uc010ghl.2_Silent_p.A390A	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	391	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GCGCAGTAAGGGCTGACTGAC	0.418000												
ZNFX1	57169	broad.mit.edu	37	20	47865975	47865975	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:47865975G>T	uc002xui.2	-	14	3833	c.3586C>A	c.(3586-3588)CTC>ATC	p.L1196I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1196							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCGAGAGGAGGATGATGTCA	0.532000												
PTGIS	5740	broad.mit.edu	37	20	48129730	48129730	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:48129730G>T	uc002xut.2	-	8	1147	c.1093C>A	c.(1093-1095)CTG>ATG	p.L365M	PTGIS_uc010zyi.1_Missense_Mutation_p.L226M	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	365					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGCATGGCCAGGTCCACCACA	0.612000												
NFATC2	4773	broad.mit.edu	37	20	50139969	50139969	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:50139969G>A	uc002xwd.2	-	2	1031	c.811C>T	c.(811-813)CGC>TGC	p.R271C	NFATC2_uc002xwc.2_Missense_Mutation_p.R271C|NFATC2_uc010zyv.1_Missense_Mutation_p.R52C|NFATC2_uc010zyw.1_Missense_Mutation_p.R52C|NFATC2_uc010zyx.1_Missense_Mutation_p.R251C|NFATC2_uc010zyy.1_Missense_Mutation_p.R52C|NFATC2_uc010zyz.1_Missense_Mutation_p.R52C|NFATC2_uc002xwe.2_Missense_Mutation_p.R251C	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	271	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CTCCGGGAGCGCTGGGGTGAG	0.731000												
C20orf177	63939	broad.mit.edu	37	20	58519082	58519082	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:58519082C>T	uc002yba.2	+	5	499	c.84C>T	c.(82-84)CAC>CAT	p.H28H	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.H28H	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	28										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			AAGTACCCCACGCTTCTTCCC	0.448000												
DIDO1	11083	broad.mit.edu	37	20	61541269	61541269	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:61541269T>C	uc002ydr.1	-	4	1207	c.943A>G	c.(943-945)ATC>GTC	p.I315V	DIDO1_uc002yds.1_Missense_Mutation_p.I315V|DIDO1_uc002ydt.1_Missense_Mutation_p.I315V|DIDO1_uc002ydu.1_Missense_Mutation_p.I315V|DIDO1_uc002ydv.1_Missense_Mutation_p.I315V|DIDO1_uc002ydw.1_Missense_Mutation_p.I315V|DIDO1_uc002ydx.1_Missense_Mutation_p.I315V|DIDO1_uc011aao.1_Missense_Mutation_p.I315V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	315	PHD-type.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TTTGGGCAGATATAGTCTTCC	0.493000												
MYT1	4661	broad.mit.edu	37	20	62839241	62839241	+	Missense_Mutation	SNP	G	G	A	rs139069988		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:62839241G>A	uc002yii.2	+	7	1056	c.692G>A	c.(691-693)CGC>CAC	p.R231H	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	231	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCACCGAGCGCTCCCAGGAC	0.557000												
KRTAP26-1	388818	broad.mit.edu	37	21	31691822	31691822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:31691822C>T	uc002ynw.2	-	1	786	c.532G>A	c.(532-534)GTT>ATT	p.V178I		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	178						intermediate filament				ovary(1)	1						CTGGACACAACGTGAAGACTT	0.557000												
TIAM1	7074	broad.mit.edu	37	21	32617973	32617973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:32617973C>T	uc002yow.1	-	7	1887	c.1415G>A	c.(1414-1416)TGC>TAC	p.C472Y	TIAM1_uc011adk.1_Missense_Mutation_p.C472Y|TIAM1_uc011adl.1_Missense_Mutation_p.C472Y|TIAM1_uc002yox.1_Missense_Mutation_p.C80Y	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	472	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AAATAGCGTGCATCCTGAGGA	0.527000												
RIPK4	54101	broad.mit.edu	37	21	43162041	43162041	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:43162041C>T	uc002yzn.1	-	8	1360	c.1312G>A	c.(1312-1314)GGT>AGT	p.G438S		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	438						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						AGGCTGGCACCGCTGTCCAGT	0.627000												
PKNOX1	5316	broad.mit.edu	37	21	44437072	44437072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr21:44437072G>A	uc002zcq.1	+	6	765	c.577G>A	c.(577-579)GCG>ACG	p.A193T	PKNOX1_uc002zcp.1_Missense_Mutation_p.A193T|PKNOX1_uc011aex.1_Missense_Mutation_p.A76T|PKNOX1_uc002zcr.2_Missense_Mutation_p.A193T	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	193							sequence-specific DNA binding			large_intestine(2)	2						TGTGGTGCCGGCGTCCGCGCT	0.512000												
CECR2	27443	broad.mit.edu	37	22	17983977	17983977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:17983977C>T	uc010gqw.1	+	6	799	c.673C>T	c.(673-675)CGA>TGA	p.R225*	CECR2_uc010gqv.1_Nonsense_Mutation_p.R104*|CECR2_uc002zml.2_Nonsense_Mutation_p.R104*|CECR2_uc002zmm.1_Nonsense_Mutation_p.R104*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	267					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GACCTCCCTTCGAGAACGGCA	0.582000												
CECR2	27443	broad.mit.edu	37	22	18021539	18021539	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:18021539A>G	uc010gqw.1	+	14	1956	c.1830A>G	c.(1828-1830)GTA>GTG	p.V610V	CECR2_uc010gqv.1_Silent_p.V469V|CECR2_uc002zml.2_Silent_p.V469V	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	652					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GGCCAGCAGTACCAGGAACAT	0.542000												
CYTSA	23384	broad.mit.edu	37	22	24717989	24717989	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:24717989T>C	uc002zzw.2	+	5	1348	c.1041T>C	c.(1039-1041)AGT>AGC	p.S347S	CYTSA_uc002zzv.3_Silent_p.S347S|CYTSA_uc011ajq.1_Silent_p.S347S	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	347					cell cycle|cell division						0						ATTTAGACAGTGAGTGCAGTG	0.542000												
PIK3IP1	113791	broad.mit.edu	37	22	31679239	31679239	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:31679239A>G	uc003akm.2	-	6	813	c.623T>C	c.(622-624)GTA>GCA	p.V208A	PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_3'UTR|PIK3IP1_uc003akn.2_Missense_Mutation_p.V188A	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN	HGFL protein isoform 1	208	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						CCTCTCACATACTTTCTGATC	0.483000												
L3MBTL2	83746	broad.mit.edu	37	22	41620769	41620769	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:41620769G>T	uc003azo.2	+	10	1269	c.1215G>T	c.(1213-1215)AAG>AAT	p.K405N	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K314N|L3MBTL2_uc003azn.2_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	405	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CCTTCCGGAAGATCTACTGTG	0.582000												
ARFGAP3	26286	broad.mit.edu	37	22	43227589	43227589	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:43227589T>C	uc003bdd.2	-	6	751	c.531A>G	c.(529-531)TCA>TCG	p.S177S	ARFGAP3_uc010gzf.2_Silent_p.S133S|ARFGAP3_uc011apu.1_Silent_p.S105S	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	177					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						CCACAGGCCTTGATGTTAAAG	0.408000												
RIBC2	26150	broad.mit.edu	37	22	45818216	45818216	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:45818216G>A	uc011aqs.1	+	5	797	c.588G>A	c.(586-588)AAG>AAA	p.K196K		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	128											0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGACAGCCAAGCACCTCCAGA	0.547000												
SBF1	6305	broad.mit.edu	37	22	50906280	50906280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:50906280C>T	uc003blh.2	-	3	409	c.214G>A	c.(214-216)GAC>AAC	p.D72N	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.D72N	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	72	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTTGATGTCGGTGAGGACA	0.602000												
ITPR1	3708	broad.mit.edu	37	3	4706906	4706906	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:4706906G>A	uc003bqa.2	+	17	1987	c.1639G>A	c.(1639-1641)GCT>ACT	p.A547T	ITPR1_uc010hca.1_Missense_Mutation_p.A532T|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.A532T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	547	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCAGCGGCACGCTCCTTTCAG	0.527000												
TATDN2	9797	broad.mit.edu	37	3	10312453	10312453	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10312453A>T	uc003bvg.2	+	4	2168	c.1587A>T	c.(1585-1587)GAA>GAT	p.E529D	TATDN2_uc003bvf.2_Missense_Mutation_p.E529D|TATDN2_uc011atr.1_Missense_Mutation_p.E529D|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	529						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						TCCCTAAGGAATTTCAGGGCT	0.488000												
GHRL	51738	broad.mit.edu	37	3	10328491	10328491	+	Silent	SNP	G	G	A	rs149447194	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10328491G>A	uc010hdf.2	-	4	366	c.231C>T	c.(229-231)AAC>AAT	p.N77N	GHRLOS_uc011atw.1_Intron|GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_RNA|GHRL_uc010hdb.1_RNA|GHRL_uc003bvj.1_Intron|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Silent_p.N64N|GHRL_uc010hdc.2_Silent_p.N26N|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Silent_p.N76N|GHRL_uc010hdi.2_Silent_p.N77N|GHRL_uc010hdh.2_Silent_p.N77N|GHRL_uc010hdj.2_Silent_p.N65N|GHRLOS_uc011auk.1_5'Flank	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN	ghrelin/obestatin isoform 1 preproprotein	77					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			ovary(1)	1						CAAAGGGGGCGTTGAACTAGG	0.587000											OREG0015386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATP2B2	491	broad.mit.edu	37	3	10442673	10442673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10442673G>A	uc003bvt.2	-	5	1184	c.745C>T	c.(745-747)CGC>TGC	p.R249C	ATP2B2_uc003bvv.2_Missense_Mutation_p.R249C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R249C|ATP2B2_uc010hdp.2_Missense_Mutation_p.R249C|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	249	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACGGACTTGCGCACCTGGTCA	0.597000												
RAF1	5894	broad.mit.edu	37	3	12645699	12645699	+	Missense_Mutation	SNP	G	G	A	rs80338796		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:12645699G>A	uc003bxf.3	-	7	1185	c.770C>T	c.(769-771)TCG>TTG	p.S257L	RAF1_uc011aut.1_Missense_Mutation_p.S42L|RAF1_uc011auu.1_Missense_Mutation_p.S175L	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527000			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
FBLN2	2199	broad.mit.edu	37	3	13679190	13679190	+	Missense_Mutation	SNP	C	C	T	rs112412824		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:13679190C>T	uc011avb.1	+	17	3451	c.3326C>T	c.(3325-3327)GCG>GTG	p.A1109V	FBLN2_uc011auz.1_Missense_Mutation_p.A1135V|FBLN2_uc011ava.1_Missense_Mutation_p.A1156V|FBLN2_uc011avc.1_Missense_Mutation_p.A1156V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATTGGCCCCGCGCCAGCCTTC	0.622000												
OXSM	54995	broad.mit.edu	37	3	25835771	25835771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:25835771C>T	uc003cdn.2	+	3	1273	c.1166C>T	c.(1165-1167)GCT>GTT	p.A389V	OXSM_uc011awp.1_Missense_Mutation_p.A114V|OXSM_uc010hfh.2_Missense_Mutation_p.A306V	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	389					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						CTGCTGGGAGCTGCAGGGGCA	0.443000												
SCN11A	11280	broad.mit.edu	37	3	38936341	38936341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:38936341G>A	uc011ays.1	-	15	2717	c.2518C>T	c.(2518-2520)CGC>TGC	p.R840C	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	840					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGCCCGGCGGAATCGATCC	0.458000												
DAG1	1605	broad.mit.edu	37	3	49568877	49568877	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:49568877G>A	uc003cxc.3	+	3	1351	c.933G>A	c.(931-933)CGG>CGA	p.R311R		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	311	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACGCGTCCGGAGGCAGATCC	0.627000												
HYAL3	8372	broad.mit.edu	37	3	50332546	50332546	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:50332546T>G	uc003czd.1	-	2	761	c.488A>C	c.(487-489)CAG>CCG	p.Q163P	HYAL3_uc003czc.1_Missense_Mutation_p.Q163P|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.Q163P	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	163					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGCTGCTCCTGAGGGTCCAG	0.642000												
TLR9	54106	broad.mit.edu	37	3	52257641	52257641	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:52257641G>A	uc003dda.1	-	2	1325	c.691C>T	c.(691-693)CGC>TGC	p.R231C	TLR9_uc003ddb.2_Missense_Mutation_p.R328C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	231	LRR 7.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGACGATGCGGTTGTAGGAC	0.617000												
DNAH12	201625	broad.mit.edu	37	3	57493550	57493550	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:57493550A>G	uc003dit.2	-	8	898	c.717T>C	c.(715-717)ATT>ATC	p.I239I	DNAH12_uc003diu.2_Silent_p.I239I	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	239	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						ATTCACAGTCAATTGGACCTT	0.284000												
NFKBIZ	64332	broad.mit.edu	37	3	101574616	101574616	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:101574616C>A	uc003dvp.2	+	9	1809	c.1694C>A	c.(1693-1695)GCT>GAT	p.A565D	NFKBIZ_uc003dvo.2_Missense_Mutation_p.A465D|NFKBIZ_uc010hpo.2_Missense_Mutation_p.A465D|NFKBIZ_uc003dvq.2_Missense_Mutation_p.A443D	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	565	Interaction with NFKB1/p50 (By similarity).|ANK 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						GCCCACAATGCTGTGGTCCAT	0.448000												
GUCA1C	9626	broad.mit.edu	37	3	108634981	108634981	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:108634981G>A	uc003dxj.2	-	3	503	c.435C>T	c.(433-435)AAC>AAT	p.N145N	GUCA1C_uc003dxk.2_Silent_p.N145N	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	145	3.|EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						TACCATCATTGTTTATATCGA	0.418000												
TMPRSS7	344805	broad.mit.edu	37	3	111766802	111766802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:111766802G>A	uc010hqb.2	+	5	739	c.569G>A	c.(568-570)AGC>AAC	p.S190N	TMPRSS7_uc011bhr.1_Missense_Mutation_p.S45N	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	316	Extracellular (Potential).|CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ATCCGGAGCAGCATCTTGTAC	0.443000												
CASR	846	broad.mit.edu	37	3	121981056	121981056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:121981056C>T	uc003eev.3	+	4	1546	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	CASR_uc003eew.3_Nonsense_Mutation_p.R392*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	392	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GACAGCCTTCCGACCCCTCTG	0.493000												
HEG1	57493	broad.mit.edu	37	3	124732092	124732092	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:124732092G>A	uc003ehs.3	-	6	2399	c.2331C>T	c.(2329-2331)GAC>GAT	p.D777D	HEG1_uc011bke.1_Silent_p.D877D	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	777	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCTCTTAAGGTCTGCAGTTT	0.488000												
KY	339855	broad.mit.edu	37	3	134348463	134348463	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:134348463G>A	uc010hty.2	-	4	399	c.337C>T	c.(337-339)CGT>TGT	p.R113C	KY_uc011blw.1_Missense_Mutation_p.R113C|KY_uc011blx.1_Missense_Mutation_p.R92C|KY_uc003eqs.1_Missense_Mutation_p.R133C	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	113						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						TCATACATACGTTTAGCCAAG	0.532000												
EPHB1	2047	broad.mit.edu	37	3	134960059	134960059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:134960059G>A	uc003eqt.2	+	13	2636	c.2416G>A	c.(2416-2418)GAC>AAC	p.D806N	EPHB1_uc003equ.2_Missense_Mutation_p.D367N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	806	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TTCAGCCAGCGACGTTTGGAG	0.527000												
PLSCR5	389158	broad.mit.edu	37	3	146307501	146307501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:146307501T>C	uc003ewb.2	-	6	1720	c.716A>G	c.(715-717)CAT>CGT	p.H239R	PLSCR5_uc010hvb.2_Missense_Mutation_p.H227R|PLSCR5_uc010hvc.2_Missense_Mutation_p.H239R	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	239											0						TGCAGGAACATGAATTCCGAA	0.373000												
ZIC1	7545	broad.mit.edu	37	3	147128660	147128660	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:147128660C>T	uc003ewe.2	+	1	1480	c.761C>T	c.(760-762)ACG>ATG	p.T254M		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	254	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGCTAGTTACGCACGTCACC	0.557000												
MED12L	116931	broad.mit.edu	37	3	151093846	151093846	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:151093846T>C	uc003eyp.2	+	26	3830	c.3792T>C	c.(3790-3792)CCT>CCC	p.P1264P	MED12L_uc011bnz.1_Silent_p.P1124P|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.P427P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1264					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAAAGAACCTGAAAGATTAT	0.353000												
PLCH1	23007	broad.mit.edu	37	3	155206450	155206450	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:155206450A>G	uc011bok.1	-	19	2779	c.2502T>C	c.(2500-2502)CCT>CCC	p.P834P	PLCH1_uc011boj.1_Silent_p.P834P|PLCH1_uc011bol.1_Silent_p.P816P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	834					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATACCTACCAGGCACTAAGC	0.418000												
SERPINI1	5274	broad.mit.edu	37	3	167540780	167540780	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:167540780A>G	uc003ffa.3	+	7	1184	c.986A>G	c.(985-987)AAG>AGG	p.K329R	SERPINI1_uc003ffb.3_Missense_Mutation_p.K329R	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	329					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						GCAGATAATAAGGAGATTTTT	0.338000												
LRRC31	79782	broad.mit.edu	37	3	169572662	169572662	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:169572662C>A	uc003fgc.1	-	6	1007	c.930G>T	c.(928-930)AAG>AAT	p.K310N	LRRC31_uc010hwp.1_Missense_Mutation_p.K254N	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	310										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTGTAGATGCTTTAGCATGA	0.428000												
IGF2BP2	10644	broad.mit.edu	37	3	185407313	185407313	+	Silent	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:185407313G>T	uc003fpo.2	-	6	586	c.507C>A	c.(505-507)GCC>GCA	p.A169A	IGF2BP2_uc010hyi.2_Silent_p.A112A|IGF2BP2_uc010hyj.2_Silent_p.A106A|IGF2BP2_uc010hyk.2_Silent_p.A33A|IGF2BP2_uc010hyl.2_Silent_p.A106A|IGF2BP2_uc003fpp.2_Silent_p.A169A|IGF2BP2_uc003fpq.2_Silent_p.A174A	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	169					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCCACGCTGGGCTCGCTGAG	0.612000												
HTT	3064	broad.mit.edu	37	4	3136230	3136230	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:3136230A>G	uc011bvq.1	+	20	2747	c.2602A>G	c.(2602-2604)ACA>GCA	p.T868A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	866					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTGGTGAGGACAGAGCTTCT	0.463000												
TADA2B	93624	broad.mit.edu	37	4	7056038	7056038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:7056038G>A	uc003gjw.3	+	2	671	c.520G>A	c.(520-522)GAG>AAG	p.E174K	TADA2B_uc010idi.2_Missense_Mutation_p.E99K	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GGATGATTACGAGATCGAGTA	0.627000												
SRP72	6731	broad.mit.edu	37	4	57354156	57354156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:57354156G>T	uc003hbv.2	+	12	1241	c.1201G>T	c.(1201-1203)GAG>TAG	p.E401*	SRP72_uc010ihe.2_Nonsense_Mutation_p.E340*|SRP72_uc003hbw.1_Nonsense_Mutation_p.E162*	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	401					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AAGCATAGAGGAGTTAAAGCA	0.259000												
REST	5978	broad.mit.edu	37	4	57797557	57797557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:57797557G>A	uc003hch.2	+	4	2880	c.2533G>A	c.(2533-2535)GTT>ATT	p.V845I	REST_uc003hci.2_Missense_Mutation_p.V845I|REST_uc010ihf.2_Missense_Mutation_p.V519I	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	845					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					CTTAGTGCCTGTTAAAGATAG	0.443000												
ANKRD17	26057	broad.mit.edu	37	4	74005551	74005551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:74005551G>A	uc003hgp.2	-	15	2899	c.2782C>T	c.(2782-2784)CGG>TGG	p.R928W	ANKRD17_uc003hgo.2_Missense_Mutation_p.R815W|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.R928W|ANKRD17_uc011cbd.1_Missense_Mutation_p.R493W	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	928	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTAACCGTGCATAGTCT	0.498000												
HELQ	113510	broad.mit.edu	37	4	84370031	84370031	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:84370031T>G	uc003hom.2	-	3	1275	c.1096A>C	c.(1096-1098)ACC>CCC	p.T366P	HELQ_uc010ikb.2_Missense_Mutation_p.T366P|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.T260P	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	366	ATP (By similarity).|Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						GCCACGAGGGTTTTTCCACCA	0.353000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
NKX6-1	4825	broad.mit.edu	37	4	85414492	85414492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:85414492C>T	uc003hpa.1	-	3	1060	c.1054G>A	c.(1054-1056)GGC>AGC	p.G352S		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	352	Poly-Gly.|Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CCGCCGCCGCCGCCGCTGCTG	0.657000												
SPARCL1	8404	broad.mit.edu	37	4	88414917	88414917	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:88414917G>A	uc010ikm.2	-	5	1607	c.1035C>T	c.(1033-1035)GGC>GGT	p.G345G	SPARCL1_uc011cdc.1_Silent_p.G220G|SPARCL1_uc003hqs.3_Silent_p.G345G|SPARCL1_uc011cdd.1_Silent_p.G220G|SPARCL1_uc003hqt.2_Silent_p.G345G	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	345					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CGCcatcatcgccatcatcat	0.438000												
DMP1	1758	broad.mit.edu	37	4	88583274	88583274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:88583274G>A	uc003hqv.2	+	6	448	c.344G>A	c.(343-345)GGT>GAT	p.G115D	DMP1_uc003hqw.2_Missense_Mutation_p.G99D	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	115					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GACACCTTTGGTGACGATGAC	0.488000												
RG9MTD2	93587	broad.mit.edu	37	4	100479282	100479282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:100479282C>T	uc003huy.2	-	3	585	c.272G>A	c.(271-273)CGT>CAT	p.R91H	RG9MTD2_uc003huz.3_Missense_Mutation_p.R91H|RG9MTD2_uc003hva.3_Missense_Mutation_p.R91H	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	91							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TCTTCGAACACGTTTTCTGTC	0.348000												
CFI	3426	broad.mit.edu	37	4	110681532	110681532	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:110681532G>A	uc003hzr.3	-	6	985	c.777C>T	c.(775-777)TGC>TGT	p.C259C	CFI_uc003hzq.2_Silent_p.C56C|CFI_uc011cft.1_Silent_p.C259C|CFI_uc003hzs.3_Silent_p.C259C	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	259	LDL-receptor class A 2.				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)		CTTTGCCTTGGCATGCTGTGC	0.403000												
QRFPR	84109	broad.mit.edu	37	4	122257967	122257967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:122257967G>A	uc010inj.1	-	3	935	c.556C>T	c.(556-558)CTT>TTT	p.L186F	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.L186F	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	186	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						TCTACCTCAAGTTGTTGCACG	0.418000												
ANXA5	308	broad.mit.edu	37	4	122602903	122602903	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:122602903T>C	uc003idu.3	-	5	387	c.317A>G	c.(316-318)AAT>AGT	p.N106S	ANXA5_uc003idv.3_Missense_Mutation_p.N106S|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.N106S|ANXA5_uc010inn.2_Missense_Mutation_p.N46S|ANXA5_uc010ino.2_Intron	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	106	Annexin 2.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						TACTTTTTCATTTGTTCCAGC	0.308000												
KIAA1109	84162	broad.mit.edu	37	4	123192637	123192637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:123192637G>A	uc003ieh.2	+	45	8003	c.7958G>A	c.(7957-7959)CGA>CAA	p.R2653Q	KIAA1109_uc003iel.1_Missense_Mutation_p.R588Q|KIAA1109_uc003iek.2_Missense_Mutation_p.R1272Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2653					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAGGAATCTCGAAACAAGAAT	0.368000												
INPP4B	8821	broad.mit.edu	37	4	143094842	143094842	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:143094842A>G	uc003iix.3	-	17	1897	c.1302T>C	c.(1300-1302)TCT>TCC	p.S434S	INPP4B_uc003iiw.3_Silent_p.S434S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.S249S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.S305S	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	434					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GCTGGCTTGCAGAATTAAGCA	0.383000												
NR3C2	4306	broad.mit.edu	37	4	149356493	149356493	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:149356493C>T	uc003ilj.3	-	2	1854	c.1520G>A	c.(1519-1521)AGC>AAC	p.S507N	NR3C2_uc003ilk.3_Missense_Mutation_p.S507N|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	507	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGAAGGGATGCTGGCCTCTGG	0.502000												
RBM46	166863	broad.mit.edu	37	4	155720669	155720669	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:155720669T>C	uc003ioo.2	+	4	1528	c.1355T>C	c.(1354-1356)TTA>TCA	p.L452S	RBM46_uc011cim.1_Missense_Mutation_p.L452S|RBM46_uc003iop.1_Missense_Mutation_p.L452S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	452							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTACTACGTTAGAAGATGCA	0.348000												
CPE	1363	broad.mit.edu	37	4	166388881	166388881	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:166388881C>T	uc003irg.3	+	3	823	c.546C>T	c.(544-546)GCC>GCT	p.A182A		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	182					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAATGCCCAGGGAATAG	0.378000												
TLR3	7098	broad.mit.edu	37	4	186997931	186997931	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:186997931T>C	uc003iyq.2	+	2	259	c.158T>C	c.(157-159)ATA>ACA	p.I53T		NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	53	LRR 1.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCCACAAACATAACAGTGTTG	0.473000												
DNAH5	1767	broad.mit.edu	37	5	13928247	13928247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:13928247C>T	uc003jfd.2	-	3	275	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	78	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CATGAGGTGTCGGAGACCTCC	0.348000									Kartagener_syndrome			
FBXL7	23194	broad.mit.edu	37	5	15936714	15936714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:15936714C>T	uc003jfn.1	+	4	1376	c.895C>T	c.(895-897)CAG>TAG	p.Q299*		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	299	LRR 5.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCACTGCACGCAGCTCACCCA	0.627000												
AMACR	23600	broad.mit.edu	37	5	34004802	34004802	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:34004802C>T	uc003jig.2	-	3	511	c.429G>A	c.(427-429)CCG>CCA	p.P143P	AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Silent_p.P143P|AMACR_uc003jij.2_Silent_p.P143P|AMACR_uc003jil.1_Silent_p.P143P|AMACR_uc003jik.1_Intron	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	143					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						GCGGGGCATACGGATTCTCAC	0.408000												
CKMT2	1160	broad.mit.edu	37	5	80550869	80550869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:80550869C>T	uc003khc.3	+	6	747	c.505C>T	c.(505-507)CGC>TGC	p.R169C	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R169C|CKMT2_uc003khd.3_Missense_Mutation_p.R169C|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	169	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCGCACTGGCCGCAGCATCCG	0.657000												
GPR98	84059	broad.mit.edu	37	5	90000297	90000297	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:90000297G>T	uc003kju.2	+	36	8474	c.8378G>T	c.(8377-8379)AGG>ATG	p.R2793M	GPR98_uc003kjt.2_Missense_Mutation_p.R499M|GPR98_uc003kjv.2_Missense_Mutation_p.R393M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2793	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATGATGTCAGGACACAAGGT	0.303000												
FSTL4	23105	broad.mit.edu	37	5	132560966	132560966	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:132560966G>A	uc003kyn.1	-	10	1406	c.1188C>T	c.(1186-1188)AGC>AGT	p.S396S	FSTL4_uc003kym.1_Missense_Mutation_p.A3V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	396	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGAGTTCGCTCCCATTGG	0.532000												
NEUROG1	4762	broad.mit.edu	37	5	134871302	134871302	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:134871302T>C	uc003lax.2	-	1	338	c.79A>G	c.(79-81)ACC>GCC	p.T27A		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	27					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTCGTCGGTGAGGAAGCCG	0.522000												
KLHL3	26249	broad.mit.edu	37	5	136964109	136964109	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:136964109C>T	uc010jek.2	-	13	1912	c.1468G>A	c.(1468-1470)GGA>AGA	p.G490R	KLHL3_uc011cyc.1_Missense_Mutation_p.G225R|KLHL3_uc003lbr.3_Missense_Mutation_p.G408R|KLHL3_uc011cyd.1_RNA	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	490	Kelch 4.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TACAGCTGTCCGCTAAGCACT	0.448000												
PCDHA3	56145	broad.mit.edu	37	5	140182453	140182453	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140182453C>T	uc003lhf.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.D557D	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687000												
PCDHA11	56138	broad.mit.edu	37	5	140250586	140250586	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140250586C>T	uc003lia.2	+	1	2756	c.1898C>T	c.(1897-1899)ACG>ATG	p.T633M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T633M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	633	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGCACAACGCGTGCCCTG	0.662000												
PCDHA13	56136	broad.mit.edu	37	5	140264030	140264030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140264030C>T	uc003lif.2	+	1	2177	c.2177C>T	c.(2176-2178)CCG>CTG	p.P726L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P726L|PCDHA13_uc003lid.2_Missense_Mutation_p.P726L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCGGCACCGCCCACCGAG	0.647000												
PCDHB5	26167	broad.mit.edu	37	5	140515675	140515675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140515675C>T	uc003liq.2	+	1	876	c.659C>T	c.(658-660)CCG>CTG	p.P220L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	220	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGGGCTCCGCCCAGGTCC	0.557000												
PCDHB16	57717	broad.mit.edu	37	5	140563517	140563517	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140563517C>T	uc003liv.2	+	1	2538	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R	PCDHB16_uc010jfw.1_Silent_p.R133R	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	461	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R461H(1)		ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.587000												
PCDHB14	56122	broad.mit.edu	37	5	140604527	140604527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140604527G>A	uc003ljb.2	+	1	1450	c.1450G>A	c.(1450-1452)GCC>ACC	p.A484T	PCDHB14_uc011dal.1_Missense_Mutation_p.A331T	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	484	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAA	0.642000												
PCDHGA3	56112	broad.mit.edu	37	5	140724254	140724254	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140724254C>T	uc003ljm.1	+	1	654	c.654C>T	c.(652-654)GGC>GGT	p.G218G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.G218G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGGTGGCGACCCTGTCC	0.532000												
PCDHGA3	56112	broad.mit.edu	37	5	140724659	140724659	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140724659A>G	uc003ljm.1	+	1	1059	c.1059A>G	c.(1057-1059)ACA>ACG	p.T353T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T113T|PCDHGA3_uc011dap.1_Silent_p.T353T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	353	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTCTCACAAGCTCAGTCC	0.478000												
JAKMIP2	9832	broad.mit.edu	37	5	147012314	147012314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:147012314G>A	uc003loq.1	-	13	2087	c.1705C>T	c.(1705-1707)CGG>TGG	p.R569W	JAKMIP2_uc011dbx.1_Missense_Mutation_p.R527W|JAKMIP2_uc003lor.1_Missense_Mutation_p.R548W|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R569W	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	569	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGTAACCGGTGATTTTCT	0.378000												
ARHGEF37	389337	broad.mit.edu	37	5	148980674	148980674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:148980674C>T	uc003lra.1	+	3	254	c.190C>T	c.(190-192)CCG>TCG	p.P64S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	64	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						CTTCCAGTTGCCGCAGGGAGA	0.468000												
GABRA6	2559	broad.mit.edu	37	5	161113339	161113339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:161113339C>T	uc003lyu.2	+	2	480	c.142C>T	c.(142-144)CGG>TGG	p.R48W		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	48	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAATCGGCTGCGGCCGGGATT	0.483000										TCGA Ovarian(5;0.080)		
ODZ2	57451	broad.mit.edu	37	5	167673994	167673994	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:167673994A>G	uc010jjd.2	+	27	6023	c.6023A>G	c.(6022-6024)CAG>CGG	p.Q2008R	ODZ2_uc003lzr.3_Missense_Mutation_p.Q1778R|ODZ2_uc003lzt.3_Missense_Mutation_p.Q1381R|ODZ2_uc010jje.2_Missense_Mutation_p.Q1272R	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCGGACGCCAGGTGTTCTAC	0.502000												
KCNMB1	3779	broad.mit.edu	37	5	169805926	169805926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:169805926C>T	uc003maq.1	-	4	758	c.358G>A	c.(358-360)GTG>ATG	p.V120M	KCNIP1_uc003map.2_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	120	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ACCTTCTCCACGTCGGCCCGG	0.577000												
CPEB4	80315	broad.mit.edu	37	5	173359456	173359456	+	Missense_Mutation	SNP	G	G	A	rs142106976		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:173359456G>A	uc003mcs.3	+	3	2617	c.1211G>A	c.(1210-1212)CGT>CAT	p.R404H	CPEB4_uc010jju.1_Intron|CPEB4_uc010jjv.2_Intron|CPEB4_uc011dfg.1_Intron|CPEB4_uc003mct.3_Missense_Mutation_p.R22H|CPEB4_uc003mcu.3_Intron	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	404							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTTCAGGTCGTCTAAACTAT	0.348000												
MAML1	9794	broad.mit.edu	37	5	179195922	179195922	+	Silent	SNP	C	C	T	rs141541345	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:179195922C>T	uc003mkm.2	+	3	2066	c.1803C>T	c.(1801-1803)TCC>TCT	p.S601S	MAML1_uc003mkn.1_Silent_p.S601S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	601					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCGTGTCCGTGGCCAGCT	0.577000												
HIVEP1	3096	broad.mit.edu	37	6	12122268	12122268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:12122268G>A	uc003nac.2	+	4	2419	c.2240G>A	c.(2239-2241)CGG>CAG	p.R747Q	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	747					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAGGAGCGGATATCGAAG	0.502000												
CDKAL1	54901	broad.mit.edu	37	6	21231094	21231094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:21231094C>T	uc003ndc.1	+	16	1738	c.1564C>T	c.(1564-1566)CTT>TTT	p.L522F	CDKAL1_uc003ndd.1_Missense_Mutation_p.L522F|CDKAL1_uc003nde.1_Missense_Mutation_p.L431F|CDKAL1_uc003ndf.1_Missense_Mutation_p.L35F|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	522					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CAGAAATGGGCTTGGGAACCA	0.458000												
HIST1H4F	8361	broad.mit.edu	37	6	26240923	26240923	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:26240923G>A	uc003nhe.1	+	1	270	c.270G>A	c.(268-270)GCG>GCA	p.A90A		NM_003540	NP_003531	P62805	H4_HUMAN	histone cluster 1, H4f	90					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTGTCTACGCGCTCAAGCGCC	0.542000												
FKSG83	83954	broad.mit.edu	37	6	27293382	27293382	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:27293382C>T	uc010jqt.2	+	1	805	c.321C>T	c.(319-321)AAC>AAT	p.N107N	FKSG83_uc010jqs.1_3'UTR	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN	FKSG83	107						integral to membrane	pheromone receptor activity				0						ATGGGACTAACGTGTGTCTTT	0.393000												
OR10C1	442194	broad.mit.edu	37	6	29408587	29408587	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:29408587C>T	uc011dlp.1	+	1	795	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGGCCAGCTACGATCCGGCCA	0.577000												
TRIM10	10107	broad.mit.edu	37	6	30128498	30128498	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:30128498T>C	uc003npo.3	-	1	214	c.138A>G	c.(136-138)ATA>ATG	p.I46M	TRIM10_uc003npn.2_Missense_Mutation_p.I46M|TRIM15_uc010jrx.2_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	46	RING-type.					cytoplasm	zinc ion binding				0						CTGGGCCTGGTATCTCACAGT	0.617000												
GRM4	2914	broad.mit.edu	37	6	34029800	34029800	+	Missense_Mutation	SNP	C	C	T	rs144674222		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:34029800C>T	uc003oir.3	-	3	912	c.742G>A	c.(742-744)GTG>ATG	p.V248M	GRM4_uc011dsn.1_Missense_Mutation_p.V248M|GRM4_uc010jvh.2_Missense_Mutation_p.V248M|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc003oio.2_Translation_Start_Site|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V108M|GRM4_uc003oiq.2_Missense_Mutation_p.V115M|GRM4_uc011dsm.1_Missense_Mutation_p.V79M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	248	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GCGATGCACACGCCCCCTGCA	0.642000												
C6orf142	90523	broad.mit.edu	37	6	54095592	54095592	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:54095592G>A	uc003pcg.3	+	11	1307	c.1194G>A	c.(1192-1194)CTG>CTA	p.L398L	C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.L933L	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	398						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					AGTCACTGCTGCATCCACAGA	0.512000												
DDX43	55510	broad.mit.edu	37	6	74111617	74111617	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:74111617A>C	uc003pgw.2	+	4	816	c.472A>C	c.(472-474)AGC>CGC	p.S158R	DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	158						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						AAAAGATGGAAGCACAGATAA	0.313000												
COL12A1	1303	broad.mit.edu	37	6	75853001	75853001	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:75853001A>G	uc003phs.2	-	26	4960	c.4794T>C	c.(4792-4794)GTT>GTC	p.V1598V	COL12A1_uc003pht.2_Silent_p.V434V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1598	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTTTGTATCGAACAATATATT	0.368000												
MCHR2	84539	broad.mit.edu	37	6	100368816	100368816	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:100368816C>T	uc003pqh.1	-	6	1338	c.1023G>A	c.(1021-1023)TAG>TAA	p.*341*	MCHR2_uc003pqi.1_Silent_p.*341*	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	341						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGTACTTTCCTAAAAGTGTG	0.403000												
PREP	5550	broad.mit.edu	37	6	105825262	105825262	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:105825262G>A	uc003prc.2	-	3	456	c.253C>T	c.(253-255)CGG>TGG	p.R85W		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	85					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAGTCTCACCGTTTTCCTTTC	0.328000												
SOBP	55084	broad.mit.edu	37	6	107956521	107956521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:107956521G>A	uc003prx.2	+	6	2977	c.2473G>A	c.(2473-2475)GGC>AGC	p.G825S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	825							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCAAGACCGGCTGCGTGAT	0.662000												
FYN	2534	broad.mit.edu	37	6	111995792	111995792	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:111995792G>T	uc003pvj.2	-	12	1655	c.1315C>A	c.(1315-1317)CTG>ATG	p.L439M	FYN_uc003pvi.2_Missense_Mutation_p.L384M|FYN_uc003pvk.2_Missense_Mutation_p.L439M|FYN_uc003pvh.2_Missense_Mutation_p.L436M	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	439	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTCCCGTACAGGGCTGCCTCG	0.537000												
RSPH4A	345895	broad.mit.edu	37	6	116949263	116949263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:116949263C>T	uc003pxe.2	+	3	1538	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.R465*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	465					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TTTCACTGGGCGATTGGATGC	0.418000									Kartagener_syndrome			
FAM184A	79632	broad.mit.edu	37	6	119345681	119345681	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:119345681T>C	uc003pyj.2	-	2	805	c.457A>G	c.(457-459)ACC>GCC	p.T153A	FAM184A_uc003pyk.3_Missense_Mutation_p.T33A|FAM184A_uc003pyl.3_Missense_Mutation_p.T33A	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	153	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CTAGACATGGTCACTATGCGT	0.403000												
GJA1	2697	broad.mit.edu	37	6	121768435	121768435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:121768435C>T	uc003pyr.2	+	2	692	c.442C>T	c.(442-444)CGA>TGA	p.R148*	GJA1_uc011ebo.1_Nonsense_Mutation_p.R49*|GJA1_uc011ebp.1_Intron	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	148	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGTGAAAATGCGAGGGGGGTT	0.453000												
ENPP1	5167	broad.mit.edu	37	6	132185669	132185669	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:132185669T>G	uc011ecf.1	+	10	1069	c.1049T>G	c.(1048-1050)ATT>AGT	p.I350S	ENPP1_uc003qcy.2_5'UTR	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	350	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAAGAAAGGATTTTAGCTGTT	0.294000												
TAAR1	134864	broad.mit.edu	37	6	132966641	132966641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:132966641C>T	uc003qdm.1	-	1	502	c.502G>A	c.(502-504)GCT>ACT	p.A168T		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	168	Extracellular (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	ATCTCTTCAGCGCCTTTGAAG	0.373000												
GRM1	2911	broad.mit.edu	37	6	146673425	146673425	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:146673425A>T	uc010khw.1	+	5	1696	c.1226A>T	c.(1225-1227)AAG>ATG	p.K409M	GRM1_uc010khv.1_Missense_Mutation_p.K409M|GRM1_uc003qll.2_Missense_Mutation_p.K409M|GRM1_uc011edz.1_Missense_Mutation_p.K409M|GRM1_uc011eea.1_Missense_Mutation_p.K409M	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	409	Extracellular (Potential).	Glutamate (By similarity).			synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGGACAGTAAGATGGGGTTT	0.483000												
SYNE1	23345	broad.mit.edu	37	6	152740715	152740715	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:152740715T>A	uc010kiw.2	-	40	6012	c.5410A>T	c.(5410-5412)ACT>TCT	p.T1804S	SYNE1_uc003qot.3_Missense_Mutation_p.T1811S|SYNE1_uc003qou.3_Missense_Mutation_p.T1804S|SYNE1_uc010kjb.1_Missense_Mutation_p.T1787S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1804	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTATGCCGAGTAAGGGCTACT	0.318000										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152740727	152740727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:152740727G>A	uc010kiw.2	-	40	6000	c.5398C>T	c.(5398-5400)CAA>TAA	p.Q1800*	SYNE1_uc003qot.3_Nonsense_Mutation_p.Q1807*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q1800*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q1783*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1800	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGGCTACTTGATGGTCCATT	0.338000										HNSCC(10;0.0054)		
SNX9	51429	broad.mit.edu	37	6	158349639	158349639	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:158349639A>C	uc003qqv.1	+	12	1366	c.1193A>C	c.(1192-1194)AAG>ACG	p.K398T		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	398	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAGAGCAGAAGTGCGAGGCT	0.582000												
UNC93A	54346	broad.mit.edu	37	6	167721271	167721271	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:167721271G>A	uc003qvq.2	+	7	1156	c.981G>A	c.(979-981)GCG>GCA	p.A327A	UNC93A_uc003qvr.2_Silent_p.A285A	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	327	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCCAGGCGCGGTGACCCACG	0.627000												
MLLT4	4301	broad.mit.edu	37	6	168294542	168294542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:168294542G>A	uc003qwd.2	+	9	1317	c.1175G>A	c.(1174-1176)GGG>GAG	p.G392E	MLLT4_uc003qwb.1_Intron|MLLT4_uc003qwc.1_Missense_Mutation_p.G393E|MLLT4_uc003qwf.2_Intron	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	393					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTAACCCCAGGGAGAAGGAAT	0.473000			T	MLL	AL							
USP42	84132	broad.mit.edu	37	7	6196693	6196693	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:6196693G>T	uc011jwo.1	+	16	4073	c.3950G>T	c.(3949-3951)AGG>ATG	p.R1317M	USP42_uc011jwp.1_Intron|USP42_uc011jwq.1_Intron	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1317					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGGTAAGAGGAGATACTTG	0.433000												
DNAH11	8701	broad.mit.edu	37	7	21939646	21939646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:21939646C>T	uc003svc.2	+	82	13263	c.13232C>T	c.(13231-13233)ACG>ATG	p.T4411M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4411					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTGGATAAAACGCGCTTGACT	0.428000									Kartagener_syndrome			
PLEKHA8	84725	broad.mit.edu	37	7	30088859	30088859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:30088859C>T	uc003tam.1	+	5	549	c.458C>T	c.(457-459)ACT>ATT	p.T153I	PLEKHA8_uc003tao.2_Missense_Mutation_p.T37I|PLEKHA8_uc003tap.1_Missense_Mutation_p.T153I|PLEKHA8_uc003tan.2_Missense_Mutation_p.T153I	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	153					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						GATGTGGGAACTTTGCTGAAA	0.453000												
SFRP4	6424	broad.mit.edu	37	7	37956066	37956066	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:37956066T>A	uc003tfo.3	-	1	460	c.74A>T	c.(73-75)GAG>GTG	p.E25V		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	25	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						GCGCACCGCCTCGCAGGGCGC	0.687000												
HECW1	23072	broad.mit.edu	37	7	43532713	43532713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:43532713G>A	uc003tid.1	+	19	3976	c.3371G>A	c.(3370-3372)CGC>CAC	p.R1124H	HECW1_uc011kbi.1_Missense_Mutation_p.R1090H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1124					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1103H(1)		ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCATTTCTTCGCCAGCCAAAC	0.463000												
STK17A	9263	broad.mit.edu	37	7	43664348	43664348	+	Silent	SNP	T	T	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:43664348T>A	uc003tih.2	+	7	1303	c.1152T>A	c.(1150-1152)TCT>TCA	p.S384S	C7orf44_uc003til.2_Intron|C7orf44_uc003tii.2_Intron|C7orf44_uc003tij.2_Intron|C7orf44_uc010kxu.1_Intron|C7orf44_uc003tik.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	384					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2						GCAGACAGTCTGAAAAAGAGA	0.348000												
TNS3	64759	broad.mit.edu	37	7	47408673	47408673	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:47408673C>T	uc003tnv.2	-	17	1937	c.1570G>A	c.(1570-1572)GGT>AGT	p.G524S	TNS3_uc003tnw.2_Missense_Mutation_p.G524S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	524						focal adhesion	protein binding			ovary(4)	4						CTGCCAAAACCGTCAGATAGG	0.632000												
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:53104085G>A	uc003tpz.2	+	1	737	c.721G>A	c.(721-723)GGC>AGC	p.G241S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	241											0						GCCGAGCCTCGGCCCCTGGAG	0.647000												
TYW1	55253	broad.mit.edu	37	7	66648139	66648139	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:66648139G>A	uc003tvn.2	+	14	1874	c.1725G>A	c.(1723-1725)ACG>ACA	p.T575T	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Silent_p.T189T	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	575					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACAGACTGACGCTCGTGAAAG	0.517000												
WBSCR28	135886	broad.mit.edu	37	7	73279550	73279550	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:73279550T>C	uc003tzk.2	+	2	336	c.300T>C	c.(298-300)GCT>GCC	p.A100A	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	100						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				TGATGTGGGCTGGCATGTGGG	0.647000												
TRRAP	8295	broad.mit.edu	37	7	98581951	98581951	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:98581951A>G	uc003upp.2	+	60	9479	c.9270A>G	c.(9268-9270)GCA>GCG	p.A3090A	TRRAP_uc011kis.1_Silent_p.A3061A|TRRAP_uc003upr.2_Silent_p.A2778A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3090	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGCTGGCAGGCGTCATGG	0.493000												
MEPCE	56257	broad.mit.edu	37	7	100028448	100028448	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:100028448C>T	uc003uuw.2	+	1	920	c.807C>T	c.(805-807)CAC>CAT	p.H269H	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	269							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGACAGCACCACCAGCAGC	0.637000												
GIGYF1	64599	broad.mit.edu	37	7	100281778	100281778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:100281778C>T	uc003uwg.1	-	15	2742	c.1733G>A	c.(1732-1734)CGC>CAC	p.R578H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	578	Gln-rich.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGGAGCTGGCGGCTGCAAAT	0.687000												
SLC12A9	56996	broad.mit.edu	37	7	100463572	100463572	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:100463572T>C	uc003uwp.2	+	14	2232	c.2090T>C	c.(2089-2091)GTG>GCG	p.V697A	SLC12A9_uc011kki.1_Missense_Mutation_p.V228A|SLC12A9_uc003uwr.2_Missense_Mutation_p.V433A|SLC12A9_uc003uws.2_Missense_Mutation_p.V228A|SLC12A9_uc003uwt.2_Missense_Mutation_p.V433A|SLC12A9_uc003uwv.2_Missense_Mutation_p.V228A|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	697	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACAAGAATGTGGTGCTGGCC	0.697000												
ORC5L	5001	broad.mit.edu	37	7	103844608	103844608	+	Silent	SNP	C	C	T	rs142978774		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:103844608C>T	uc003vcb.2	-	2	258	c.147G>A	c.(145-147)ACG>ACA	p.T49T	ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Silent_p.T49T|ORC5L_uc003vcd.2_Silent_p.T49T	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	49					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						TTTTCAACAACGTTTGTGTTA	0.303000												
NAMPT	10135	broad.mit.edu	37	7	105891627	105891627	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:105891627T>C	uc003vdq.2	-	11	1686	c.1378A>G	c.(1378-1380)ACT>GCT	p.T460A		NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	460					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1						TTGAAGACAGTATGGAGAAGA	0.343000												
RBM28	55131	broad.mit.edu	37	7	127953322	127953322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:127953322C>T	uc003vmp.2	-	18	2166	c.2051G>A	c.(2050-2052)CGG>CAG	p.R684Q	RBM28_uc003vmo.2_Missense_Mutation_p.R226Q|RBM28_uc011koj.1_Missense_Mutation_p.R543Q	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	684					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						GCCTTTGTCCCGCAACCTGAA	0.493000												
ZYX	7791	broad.mit.edu	37	7	143079975	143079975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:143079975G>A	uc003wcw.2	+	5	738	c.583G>A	c.(583-585)GCA>ACA	p.A195T	ZYX_uc011ktd.1_Missense_Mutation_p.A38T|ZYX_uc003wcx.2_Missense_Mutation_p.A195T|ZYX_uc011kte.1_Missense_Mutation_p.A164T|ZYX_uc011ktf.1_Missense_Mutation_p.A38T	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	195					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CGGGGGCACAGCACCCCTGCC	0.592000												
EPHA1	2041	broad.mit.edu	37	7	143091370	143091370	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:143091370T>C	uc003wcz.2	-	15	2506	c.2419A>G	c.(2419-2421)AGC>GGC	p.S807G		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	807	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACACATCGCTGGCTGTGGTG	0.537000												
OR2F1	26211	broad.mit.edu	37	7	143658000	143658000	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:143658000T>C	uc003wds.1	+	1	981	c.937T>C	c.(937-939)TCA>CCA	p.S313P		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TGGGTTAACATCAAAGCTGGC	0.438000												
ZNF862	643641	broad.mit.edu	37	7	149544928	149544928	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:149544928A>G	uc010lpn.2	+	4	538	c.346A>G	c.(346-348)AGT>GGT	p.S116G	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TTCCCACCTCAGTACAGGCAG	0.557000												
ZNF775	285971	broad.mit.edu	37	7	150094965	150094965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:150094965C>T	uc003whf.1	+	3	1521	c.1396C>T	c.(1396-1398)CGC>TGC	p.R466C	LOC728743_uc003whg.2_5'Flank	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	466	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCACCAGCGCATCCACAC	0.701000												
SMARCD3	6604	broad.mit.edu	37	7	150937306	150937306	+	Silent	SNP	C	C	T	rs1050109		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:150937306C>T	uc003wjs.2	-	10	1166	c.1065G>A	c.(1063-1065)ACG>ACA	p.T355T	SMARCD3_uc003wjt.2_Silent_p.T342T|SMARCD3_uc003wju.2_Silent_p.T342T	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	355					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCACGCCGTCTTCTTCT	0.622000												
NOM1	64434	broad.mit.edu	37	7	156762298	156762298	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:156762298C>T	uc003wmy.2	+	11	2499	c.2484C>T	c.(2482-2484)AAC>AAT	p.N828N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	828					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTAAAGAACGCACAGGCCC	0.488000												
SGK223	157285	broad.mit.edu	37	8	8176270	8176270	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:8176270C>T	uc003wsh.3	-	5	3615	c.3615G>A	c.(3613-3615)CTG>CTA	p.L1205L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1205	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGAGCCGGGGCAGCTGCTTCT	0.692000												
FAM167A	83648	broad.mit.edu	37	8	11282089	11282089	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:11282089G>A	uc010lry.1	-	3	1058	c.438C>T	c.(436-438)GGC>GGT	p.G146G	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Silent_p.G146G	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	146	Potential.										0						TGTTGATGTCGCCACGCAGGC	0.632000												
VPS37A	137492	broad.mit.edu	37	8	17125856	17125856	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:17125856A>G	uc003wxj.2	+	3	643	c.290A>G	c.(289-291)TAT>TGT	p.Y97C	VPS37A_uc003wxk.2_Missense_Mutation_p.Y72C	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	97					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		CAAGGAGTGTATGTTACCTCT	0.333000												
SLC18A1	6570	broad.mit.edu	37	8	20008200	20008200	+	Silent	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:20008200A>G	uc011kyq.1	-	12	1542	c.1071T>C	c.(1069-1071)GGT>GGC	p.G357G	SLC18A1_uc003wzl.2_Silent_p.G144G|SLC18A1_uc003wzm.2_Silent_p.G357G|SLC18A1_uc011kyr.1_Silent_p.G357G|SLC18A1_uc003wzn.2_Silent_p.G325G|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.G325G	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	357	Helical; (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		TGGCCAACACACCAAAGAGGT	0.498000												
DOCK5	80005	broad.mit.edu	37	8	25199933	25199933	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:25199933T>G	uc003xeg.2	+	25	2664	c.2527T>G	c.(2527-2529)TTC>GTC	p.F843V	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.F557V|DOCK5_uc003xei.2_Missense_Mutation_p.F413V|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	843						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTCTGCAAATTCATTCAAAG	0.448000												
XKR4	114786	broad.mit.edu	37	8	56435947	56435947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:56435947G>A	uc003xsf.2	+	3	1146	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	372	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTACATGGCCGTCATCATCCA	0.582000												
VCPIP1	80124	broad.mit.edu	37	8	67547095	67547095	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:67547095C>T	uc003xwn.2	-	3	3569	c.3310G>A	c.(3310-3312)GCC>ACC	p.A1104T		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1104					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTCGCTGGGCCTCAACCAAA	0.448000												
EYA1	2138	broad.mit.edu	37	8	72184073	72184073	+	Missense_Mutation	SNP	G	G	A	rs142104253		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:72184073G>A	uc003xys.3	-	9	1173	c.886C>T	c.(886-888)CGT>TGT	p.R296C	EYA1_uc003xyr.3_Missense_Mutation_p.R291C|EYA1_uc003xyt.3_Missense_Mutation_p.R263C|EYA1_uc010lzf.2_Missense_Mutation_p.R223C|EYA1_uc003xyu.2_Missense_Mutation_p.R296C|EYA1_uc011lfe.1_Missense_Mutation_p.R290C|EYA1_uc003xyv.2_Missense_Mutation_p.R174C	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	296					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAACCTCGACGCAATCGATCA	0.463000												
HNF4G	3174	broad.mit.edu	37	8	76456180	76456180	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:76456180C>T	uc003yaq.2	+	3	382	c.112C>T	c.(112-114)CGC>TGC	p.R38C	HNF4G_uc003yap.1_Missense_Mutation_p.R38C|HNF4G_uc003yar.2_Missense_Mutation_p.R75C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	38	Nuclear receptor.				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTCTTCAGACGCAGCATTCG	0.448000												
ZFHX4	79776	broad.mit.edu	37	8	77764274	77764274	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:77764274C>A	uc003yav.2	+	10	5369	c.4982C>A	c.(4981-4983)GCC>GAC	p.A1661D	ZFHX4_uc003yau.1_Missense_Mutation_p.A1706D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1661D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1661	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACAGCAAGCCGCATTCTTT	0.463000										HNSCC(33;0.089)		
CPNE3	8895	broad.mit.edu	37	8	87560586	87560586	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:87560586T>C	uc003ydv.2	+	12	1099	c.937T>C	c.(937-939)TAC>CAC	p.Y313H	CPNE3_uc003ydw.1_Missense_Mutation_p.Y29H	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	313	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						CTCCCTTCATTACATCAGCCC	0.478000												
ZFPM2	23414	broad.mit.edu	37	8	106573672	106573672	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:106573672C>T	uc003ymd.2	+	4	406	c.383C>T	c.(382-384)CCG>CTG	p.P128L		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	128					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCTGGGGGCCGTTTCCTGGG	0.438000												
PKHD1L1	93035	broad.mit.edu	37	8	110453038	110453038	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:110453038T>C	uc003yne.2	+	33	4160	c.4056T>C	c.(4054-4056)GGT>GGC	p.G1352G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1352	Extracellular (Potential).|IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCATAAGGGGTTTTGGATTCA	0.378000										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	114186058	114186058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:114186058C>T	uc003ynu.2	-	4	761	c.602G>A	c.(601-603)CGC>CAC	p.R201H	CSMD3_uc003ynt.2_Missense_Mutation_p.R161H|CSMD3_uc011lhx.1_Missense_Mutation_p.R201H|CSMD3_uc010mcx.1_Missense_Mutation_p.R201H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	201	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACAGCTGTAGCGGATCTTGTC	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TNFRSF11B	4982	broad.mit.edu	37	8	119945336	119945336	+	Silent	SNP	G	G	A	rs144654126	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:119945336G>A	uc003yon.3	-	2	557	c.234C>T	c.(232-234)GAC>GAT	p.D78D	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	78	TNFR-Cys 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATAGACACTCGTCACTGGTGT	0.567000												
HAS2	3037	broad.mit.edu	37	8	122627103	122627103	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:122627103T>C	uc003yph.2	-	4	1443	c.905A>G	c.(904-906)CAA>CGA	p.Q302R		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	302	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATAAATTCTTGATTGTACCA	0.458000												
FAM83A	84985	broad.mit.edu	37	8	124195533	124195533	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:124195533A>G	uc003ypv.2	+	2	2451	c.437A>G	c.(436-438)AAC>AGC	p.N146S	FAM83A_uc003ypw.2_Missense_Mutation_p.N146S|FAM83A_uc003ypy.2_Missense_Mutation_p.N146S|FAM83A_uc003ypx.2_Missense_Mutation_p.N146S|FAM83A_uc003ypz.2_Missense_Mutation_p.N146S	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	146										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGCACAACAACATCAGAGAC	0.612000												
FAM135B	51059	broad.mit.edu	37	8	139158276	139158276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:139158276G>A	uc003yuy.2	-	15	3637	c.3466C>T	c.(3466-3468)CGG>TGG	p.R1156W	FAM135B_uc003yux.2_Missense_Mutation_p.R1057W|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R718W|FAM135B_uc003yvb.2_Missense_Mutation_p.P683L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1156										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)			TTTACCAGCCGGAGGTCTGCA	0.438000										HNSCC(54;0.14)		
EEF1D	1936	broad.mit.edu	37	8	144663405	144663405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:144663405G>A	uc011lki.1	-	4	552	c.283C>T	c.(283-285)CGT>TGT	p.R95C	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.R437C|EEF1D_uc003yyq.1_Missense_Mutation_p.R511C|EEF1D_uc011lkj.1_Missense_Mutation_p.R460C|EEF1D_uc003yyr.2_Missense_Mutation_p.R461C|EEF1D_uc003yyt.2_Missense_Mutation_p.R461C|EEF1D_uc011lkk.1_Missense_Mutation_p.R95C|EEF1D_uc003yys.2_Missense_Mutation_p.R95C|EEF1D_uc003yyv.2_Missense_Mutation_p.R71C|EEF1D_uc003yyu.2_Missense_Mutation_p.R95C|EEF1D_uc011lkl.1_Intron	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	95					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCACCGCCACGCAGACTCTGG	0.687000												
DOCK8	81704	broad.mit.edu	37	9	332451	332451	+	Silent	SNP	G	G	A	rs139297216		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:332451G>A	uc003zgf.2	+	10	1210	c.1098G>A	c.(1096-1098)ACG>ACA	p.T366T	DOCK8_uc011lls.1_Silent_p.T366T|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.T298T|DOCK8_uc003zgg.2_Silent_p.T298T|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	366	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCCCTACACGGTTATCAAAG	0.348000												
DOCK8	81704	broad.mit.edu	37	9	414890	414890	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:414890C>T	uc003zgf.2	+	29	3751	c.3639C>T	c.(3637-3639)GCC>GCT	p.A1213A	DOCK8_uc010mgu.2_Silent_p.A515A|DOCK8_uc010mgv.2_Silent_p.A1113A|DOCK8_uc003zgk.2_Silent_p.A671A	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1213					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAATCGCCGCCCTTTACCTAC	0.478000												
INSL6	11172	broad.mit.edu	37	9	5185595	5185595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:5185595C>T	uc003zix.2	-	1	24	c.8G>A	c.(7-9)CGG>CAG	p.R3Q		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	3						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GCGGAGGAGCCGCGGCATCCC	0.672000												
PSIP1	11168	broad.mit.edu	37	9	15468838	15468838	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:15468838G>A	uc003zlv.3	-	14	1540	c.1210C>T	c.(1210-1212)CGG>TGG	p.R404W	PSIP1_uc003zlw.3_Missense_Mutation_p.R404W	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	404					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGAATCGCCGTATCTGAGAA	0.303000												
CNTFR	1271	broad.mit.edu	37	9	34564807	34564807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:34564807G>A	uc003zup.1	-	4	390	c.109C>T	c.(109-111)CGC>TGC	p.R37C	CNTFR_uc003zuq.1_Missense_Mutation_p.R37C	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	37	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GAGCCCAGGCGCTCGTACTGC	0.652000												
RUSC2	9853	broad.mit.edu	37	9	35557979	35557979	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:35557979G>A	uc003zww.2	+	6	3307	c.3052G>A	c.(3052-3054)GGG>AGG	p.G1018R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1018R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1018						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGATCCCGGGGTGAAGGT	0.557000												
TLN1	7094	broad.mit.edu	37	9	35717226	35717226	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:35717226G>A	uc003zxt.2	-	19	2729	c.2375C>T	c.(2374-2376)GCT>GTT	p.A792V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	792					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGCCCAGCCCCTGTGGC	0.587000												
FGD3	89846	broad.mit.edu	37	9	95738590	95738590	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:95738590G>T	uc004asw.2	+	3	680	c.52G>T	c.(52-54)GGG>TGG	p.G18W	FGD3_uc004asx.2_Missense_Mutation_p.G18W|FGD3_uc004asz.2_Missense_Mutation_p.G18W	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	18					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TGCTGCCCTAGGGATGCCAGA	0.652000												
C9orf129	445577	broad.mit.edu	37	9	96080715	96080715	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:96080715C>T	uc010mre.2	-	5	920	c.556G>A	c.(556-558)GCC>ACC	p.A186T	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	186										ovary(1)	1						GACGCTGGGGCAGGGCACACT	0.592000												
PHF2	5253	broad.mit.edu	37	9	96437269	96437269	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:96437269G>T	uc004aub.2	+	19	2834	c.2687G>T	c.(2686-2688)AGG>ATG	p.R896M	PHF2_uc011lug.1_Missense_Mutation_p.R779M|PHF2_uc004auc.2_Missense_Mutation_p.R316M	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	896					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCGAAGAAAAGGAAAGGCTCA	0.572000												
PTPN3	5774	broad.mit.edu	37	9	112207535	112207535	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:112207535A>T	uc004bed.2	-	7	563	c.451T>A	c.(451-453)TCC>ACC	p.S151T	PTPN3_uc004beb.2_Missense_Mutation_p.S20T|PTPN3_uc004bec.2_Missense_Mutation_p.S20T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.S151T|PTPN3_uc011lwh.1_Missense_Mutation_p.S42T	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	151	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						ACGGCATAGGACGCTAGAACC	0.458000												
ZNF483	158399	broad.mit.edu	37	9	114305357	114305357	+	Silent	SNP	C	C	T	rs142474847		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:114305357C>T	uc004bff.2	+	6	2366	c.2142C>T	c.(2140-2142)ACC>ACT	p.T714T	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	714					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAATTCATACCGGAAGGAGAG	0.403000												
DAB2IP	153090	broad.mit.edu	37	9	124535255	124535255	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:124535255G>A	uc004bln.2	+	12	2433	c.2364G>A	c.(2362-2364)GCG>GCA	p.A788A	DAB2IP_uc004blo.2_Silent_p.A692A|DAB2IP_uc004blp.2_Silent_p.A221A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	816					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CCGAGGGCGCGCCAGGCCGGC	0.726000												
SH2D3C	10044	broad.mit.edu	37	9	130502091	130502091	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:130502091T>C	uc004bsc.2	-	11	2419	c.2277A>G	c.(2275-2277)CCA>CCG	p.P759P	SH2D3C_uc010mxo.2_Silent_p.P599P|SH2D3C_uc004bry.2_Silent_p.P601P|SH2D3C_uc004brz.3_Silent_p.P405P|SH2D3C_uc011mak.1_Silent_p.P405P|SH2D3C_uc004bsa.2_Silent_p.P602P|SH2D3C_uc004bsb.2_Silent_p.P691P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	759	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GGCCCTCTGGTGGGGCCGAGT	0.682000												
WDR34	89891	broad.mit.edu	37	9	131396974	131396974	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:131396974A>G	uc004bvq.1	-	7	1332	c.1208T>C	c.(1207-1209)TTC>TCC	p.F403S	WDR34_uc004bvs.1_Missense_Mutation_p.F394S|WDR34_uc004bvr.1_Missense_Mutation_p.F375S	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	403	WD 3.					cytoplasm				central_nervous_system(2)|skin(1)	3						GTACCTGTGGAAGGGGGAACA	0.657000												
UCK1	83549	broad.mit.edu	37	9	134400578	134400578	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:134400578T>C	uc004cay.2	-	7	784	c.683A>G	c.(682-684)CAG>CGG	p.Q228R	UCK1_uc010mzk.2_Missense_Mutation_p.Q219R|UCK1_uc004cba.2_Silent_p.P196P|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	228					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CAGAATGTCCTGGATGTGCTG	0.602000												
COL5A1	1289	broad.mit.edu	37	9	137710590	137710590	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137710590G>A	uc004cfe.2	+	55	4701	c.4319G>A	c.(4318-4320)CGA>CAA	p.R1440Q		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1440	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATGGCCTTCGAGGGATCCCT	0.682000												
COL5A1	1289	broad.mit.edu	37	9	137716476	137716476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137716476C>T	uc004cfe.2	+	62	5111	c.4729C>T	c.(4729-4731)CCA>TCA	p.P1577S	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1577	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCCCCTGCCAATCCAGGC	0.647000												
COL5A1	1289	broad.mit.edu	37	9	137727007	137727007	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137727007A>G	uc004cfe.2	+	65	5709	c.5327A>G	c.(5326-5328)TAT>TGT	p.Y1776C	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1776	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGATGTCCTATGACAACAAC	0.667000												
TLR8	51311	broad.mit.edu	37	X	12940244	12940244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:12940244C>T	uc004cve.2	+	2	3153	c.3085C>T	c.(3085-3087)CGG>TGG	p.R1029W	TLR8_uc004cvd.2_Missense_Mutation_p.R1047W	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	1029	Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						AAATGATTCACGGTATAACAA	0.403000												
PHKA2	5256	broad.mit.edu	37	X	18969298	18969298	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:18969298G>A	uc004cyv.3	-	4	808	c.378C>T	c.(376-378)GGC>GGT	p.G126G	PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Silent_p.G68G	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	126					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					ACTGGTCGTCGCCCACCACCG	0.622000												
GPR64	10149	broad.mit.edu	37	X	19031842	19031842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:19031842G>A	uc004cyx.2	-	16	1225	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	GPR64_uc004cyy.2_Missense_Mutation_p.A351V|GPR64_uc004cyz.2_Missense_Mutation_p.A340V|GPR64_uc004czb.2_Missense_Mutation_p.A354V|GPR64_uc004czc.2_Missense_Mutation_p.A338V|GPR64_uc004czd.2_Missense_Mutation_p.A330V|GPR64_uc004cze.2_Missense_Mutation_p.A324V|GPR64_uc004czf.2_Missense_Mutation_p.A316V|GPR64_uc004cza.2_Missense_Mutation_p.A332V|GPR64_uc004cyw.2_Missense_Mutation_p.A338V|GPR64_uc010nfj.2_Missense_Mutation_p.A324V	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	354	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GTTGACATTCGCAGGGGCAGA	0.527000												
SAT1	6303	broad.mit.edu	37	X	23801523	23801523	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:23801523C>T	uc004dau.2	+	1	249	c.55C>T	c.(55-57)CGG>TGG	p.R19W	SAT1_uc010nfv.2_Missense_Mutation_p.R19W|SAT1_uc004dav.2_RNA	NM_002970	NP_002961	P21673	SAT1_HUMAN	diamine N-acetyltransferase 1	19	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding				0					Spermine(DB00127)	TGACATACTGCGGCTGATCAA	0.597000											OREG0019712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM48B1	100130302	broad.mit.edu	37	X	24382737	24382737	+	Silent	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:24382737C>A	uc011mjx.1	+	1	1860	c.1860C>A	c.(1858-1860)GCC>GCA	p.A620A		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						TCCAGGGAGCCCAGGCTTTGG	0.602000												
FAM47A	158724	broad.mit.edu	37	X	34150134	34150134	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:34150134C>G	uc004ddg.2	-	1	295	c.262G>C	c.(262-264)GCT>CCT	p.A88P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	88										ovary(4)|central_nervous_system(1)	5						TTGGGGTCAGCTTGGGGACCT	0.542000												
FAM47C	442444	broad.mit.edu	37	X	37028447	37028447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:37028447G>A	uc004ddl.1	+	1	1978	c.1964G>A	c.(1963-1965)TGC>TAC	p.C655Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	655										ovary(3)	3						TCCCATCTCTGCCCAGAGCCT	0.642000												
SLC9A7	84679	broad.mit.edu	37	X	46508232	46508232	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:46508232C>T	uc004dgu.1	-	11	1356	c.1348G>A	c.(1348-1350)GTT>ATT	p.V450I		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	450	Helical; (Potential).				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						AAGATGGCAACCTGACCACAA	0.502000												
KCND1	3750	broad.mit.edu	37	X	48826129	48826129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:48826129C>T	uc004dlx.1	-	1	2123	c.550G>A	c.(550-552)GCA>ACA	p.A184T	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	184	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						ACGAGGGCTGCGGTGCTCGTG	0.662000												
CCNB3	85417	broad.mit.edu	37	X	50085219	50085219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:50085219C>T	uc004dox.3	+	9	3833	c.3535C>T	c.(3535-3537)CAT>TAT	p.H1179Y	CCNB3_uc004doy.2_Missense_Mutation_p.H1179Y|CCNB3_uc004doz.2_Missense_Mutation_p.H75Y|CCNB3_uc010njq.2_Missense_Mutation_p.H71Y|CCNB3_uc004dpa.2_Missense_Mutation_p.H18Y	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1179					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TGAGATGACCCATGAGACCCT	0.488000												
SMC1A	8243	broad.mit.edu	37	X	53438754	53438754	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:53438754T>C	uc004dsg.2	-	7	1280	c.1211A>G	c.(1210-1212)CAG>CGG	p.Q404R	SMC1A_uc011moe.1_Missense_Mutation_p.Q382R|SMC1A_uc011mof.1_Missense_Mutation_p.Q170R	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	404	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CAGACGGTCCTGGTCAGCTTT	0.463000												
HUWE1	10075	broad.mit.edu	37	X	53600835	53600835	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:53600835T>C	uc004dsp.2	-	47	6589	c.6187A>G	c.(6187-6189)AAA>GAA	p.K2063E	HUWE1_uc004dsn.2_Missense_Mutation_p.K887E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2063					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						ATTAAAGGTTTGCTGCCCTTG	0.493000												
TRO	7216	broad.mit.edu	37	X	54956889	54956889	+	Silent	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:54956889T>C	uc004dtq.2	+	12	3839	c.3732T>C	c.(3730-3732)GGT>GGC	p.G1244G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G775G|TRO_uc004dtw.2_Silent_p.G847G|TRO_uc004dtx.2_Silent_p.G627G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1244	44.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GTGGGCTAGGTACCAGCGCTG	0.612000												
OTUD6A	139562	broad.mit.edu	37	X	69283028	69283028	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:69283028C>T	uc004dxu.1	+	1	688	c.654C>T	c.(652-654)GGC>GGT	p.G218G		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	218	OTU.									lung(1)|skin(1)	2						CATGGGGAGGCCAGCTGGAGC	0.617000												
PDZD11	51248	broad.mit.edu	37	X	69509183	69509183	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:69509183G>A	uc004dyd.1	-	2	111	c.9C>T	c.(7-9)AGC>AGT	p.S3S	KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Silent_p.S35S|KIF4A_uc004dyf.1_5'Flank	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	3						basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding				0						AAGGAATCCGGCTGTCCATCT	0.512000												
TAF1	6872	broad.mit.edu	37	X	70602920	70602920	+	Missense_Mutation	SNP	G	G	A	rs143439292		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:70602920G>A	uc004dzu.3	+	12	1901	c.1850G>A	c.(1849-1851)CGC>CAC	p.R617H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R638H	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	617					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CAGTTCCATCGCCCACCTCTG	0.483000												
HDX	139324	broad.mit.edu	37	X	83724526	83724526	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:83724526C>G	uc004eek.1	-	3	314	c.205G>C	c.(205-207)GCA>CCA	p.A69P	HDX_uc011mqv.1_Missense_Mutation_p.A69P|HDX_uc004eel.1_Missense_Mutation_p.A11P	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCTGTTGTTGCTGTTCCAGAT	0.403000												
KLHL4	56062	broad.mit.edu	37	X	86887291	86887291	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:86887291T>G	uc004efb.2	+	7	1588	c.1406T>G	c.(1405-1407)TTT>TGT	p.F469C	KLHL4_uc004efa.2_Missense_Mutation_p.F469C	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	469	Kelch 1.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						AGGCTTCAATTTGGAGTCGCA	0.393000												
NOX1	27035	broad.mit.edu	37	X	100099016	100099016	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:100099016C>T	uc004egj.2	-	13	1826	c.1620G>A	c.(1618-1620)CTG>CTA	p.L540L	NOX1_uc004egl.3_Silent_p.L491L|NOX1_uc010nne.2_Silent_p.L503L	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	540	Cytoplasmic (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						AGCATTTGCGCAGGCTCTTTG	0.418000												
CAPN6	827	broad.mit.edu	37	X	110489890	110489890	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:110489890C>T	uc004epc.1	-	13	2009	c.1841G>A	c.(1840-1842)CGT>CAT	p.R614H	CAPN6_uc011msu.1_Missense_Mutation_p.R359H	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	614	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						ACCCTTCTTACGCAGGTACAG	0.507000												
KIAA1210	57481	broad.mit.edu	37	X	118222233	118222233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:118222233C>T	uc004era.3	-	11	2960	c.2960G>A	c.(2959-2961)TGC>TAC	p.C987Y		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	987										ovary(4)|skin(1)	5						CAAGGGCTGGCAAAGAAGTTT	0.458000												
GRIA3	2892	broad.mit.edu	37	X	122319737	122319737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:122319737G>A	uc004etq.3	+	3	456	c.163G>A	c.(163-165)GTG>ATG	p.V55M	GRIA3_uc004etr.3_Missense_Mutation_p.V55M|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V39M|GRIA3_uc010nqs.1_Missense_Mutation_p.V55M	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	55	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	CCGCTTTGCCGTGCAGTTATA	0.473000												
GRIA3	2892	broad.mit.edu	37	X	122537342	122537342	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:122537342A>G	uc004etq.3	+	10	1558	c.1265A>G	c.(1264-1266)AAT>AGT	p.N422S	GRIA3_uc004etr.3_Missense_Mutation_p.N422S|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N406S	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	422	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TCCTCAGAGAATCGGACCATA	0.433000												
BCORL1	63035	broad.mit.edu	37	X	129147951	129147951	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:129147951G>A	uc004evb.1	+	4	1317	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	BCORL1_uc010nrd.1_Silent_p.T303T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	401	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ctgctgccacgccagctgcca	0.154000												
ZNF280C	55609	broad.mit.edu	37	X	129370483	129370483	+	Silent	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:129370483G>A	uc004evm.2	-	7	778	c.624C>T	c.(622-624)GGC>GGT	p.G208G	ZNF280C_uc010nrf.1_Silent_p.G208G	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	208	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CTGGAGGAGAGCCAATTAAAG	0.333000												
FHL1	2273	broad.mit.edu	37	X	135292049	135292049	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:135292049T>C	uc004ezo.2	+	7	1008	c.908T>C	c.(907-909)GTG>GCG	p.V303A	FHL1_uc010nrz.2_Silent_p.S236S|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.S236S|FHL1_uc004ezq.2_Missense_Mutation_p.V174A|FHL1_uc011mvy.1_Silent_p.S236S|FHL1_uc011mvz.1_Silent_p.S236S|FHL1_uc004ezn.2_Silent_p.S236S|FHL1_uc011mwa.1_Silent_p.S265S|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.S252S|FHL1_uc004ezr.2_Missense_Mutation_p.V55A	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	303					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					AAGGCTCCAGTGTGGTGGCCT	0.363000											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARHGEF6	9459	broad.mit.edu	37	X	135789067	135789067	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:135789067C>A	uc004fab.2	-	9	1508	c.1046G>T	c.(1045-1047)AGT>ATT	p.S349I	ARHGEF6_uc011mwd.1_Missense_Mutation_p.S222I|ARHGEF6_uc011mwe.1_Missense_Mutation_p.S195I	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	349	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					AACTATTTACCTGTGCTGAGT	0.413000												
MAGEA10	4109	broad.mit.edu	37	X	151303089	151303089	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:151303089T>C	uc004ffk.2	-	5	1412	c.1004A>G	c.(1003-1005)AAA>AGA	p.K335R	MAGEA10_uc004ffl.2_Missense_Mutation_p.K335R	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	335											0	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCATCTTTCAAAGCCTC	0.483000												
HAUS7	55559	broad.mit.edu	37	X	152721808	152721808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:152721808G>A	uc004fho.1	-	7	1208	c.650C>T	c.(649-651)GCC>GTC	p.A217V	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.A217V|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	217	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						CTCGGACTTGGCAGAGGCACT	0.617000												
ATP2B3	492	broad.mit.edu	37	X	152813345	152813345	+	Silent	SNP	G	G	A	rs142541769	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:152813345G>A	uc004fht.1	+	7	1137	c.1011G>A	c.(1009-1011)GCG>GCA	p.A337A	ATP2B3_uc004fhs.1_Silent_p.A337A	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	337	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGAGCGCGGAGGGTGGGG	0.592000												
PLXNB3	5365	broad.mit.edu	37	X	153036432	153036432	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:153036432T>G	uc004fii.2	+	12	2323	c.2149T>G	c.(2149-2151)TCC>GCC	p.S717A	PLXNB3_uc011mzb.1_Silent_p.P172P|PLXNB3_uc011mzc.1_Missense_Mutation_p.S399A|PLXNB3_uc010nuk.2_Missense_Mutation_p.S740A|PLXNB3_uc011mzd.1_Missense_Mutation_p.S356A	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	717	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCTGCCTCCTTCCACTG	0.647000												
ARHGAP4	393	broad.mit.edu	37	X	153175711	153175711	+	Silent	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:153175711C>T	uc004fjk.1	-	17	2112	c.2070G>A	c.(2068-2070)CAG>CAA	p.Q690Q	ARHGAP4_uc004fjj.1_Silent_p.Q41Q|ARHGAP4_uc011mzf.1_Silent_p.Q667Q|ARHGAP4_uc004fjl.1_Silent_p.Q730Q|ARHGAP4_uc010nup.1_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	690	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGATCGGGCTGCACTATGA	0.701000												
FLNA	2316	broad.mit.edu	37	X	153585838	153585838	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:153585838C>T	uc004fkk.2	-	29	5158	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M	FLNA_uc011mzn.1_Translation_Start_Site|FLNA_uc010nuu.1_Missense_Mutation_p.V1637M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1637			Missing (in otopalatodigital spectrum disorder).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGGTGGGCACGGCACGCACG	0.657000												
SLC35D2	11046	broad.mit.edu	37	9	99098997	99098998	+	Splice_Site	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:99098997_99098998insC	uc004awc.2	-	9	828	c.752_splice	c.e9+1	p.G251_splice	SLC35D2_uc010msd.2_Splice_Site|SLC35D2_uc010mse.2_Splice_Site_p.G204_splice|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				ATGGTTTCTTACCCCAAAAAAC	0.327												
KCTD18	130535	broad.mit.edu	37	2	201369472	201369472	+	Splice_Site	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:201369471_201369471CT>C	uc002uvs.3	-	3	889	c.372_splice	c.e3+1	p.K124_splice	KCTD18_uc002uvt.3_Splice_Site_p.K124_splice|KCTD18_uc002uvu.1_Splice_Site_p.K124_splice	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	124						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGCCAAGACCTTTTTAAGTT	0.328												
SHARPIN	81858	broad.mit.edu	37	8	145153900	145153900	+	Splice_Site	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:145153899_145153899TG>T	uc003zba.3	-	8	1532	c.1048_splice	c.e8-1	p.P350_splice	SHARPIN_uc003zbb.3_Splice_Site	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	350					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCTGGGCTGGGGGAAGAG	0.632												
RFX3	5991	broad.mit.edu	37	9	3277342	3277343	+	Splice_Site	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:3277341_3277342T>TA	uc003zhr.3	-	9	1285	c.973_splice	c.e9+1	p.D325_splice	RFX3_uc010mhd.3_Splice_Site_p.D325_splice|RFX3_uc003zhs.1_Splice_Site_p.D325_splice|RFX3_uc003zht.1_Splice_Site_p.D325_splice|RFX3_uc010mhe.1_Splice_Site_p.D300_splice	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	325					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTAACATACCTAAAAACTGTTG	0.386												
MYOF	26509	broad.mit.edu	37	10	95113648	95113648	+	Splice_Site	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343												
BRSK2	9024	broad.mit.edu	37	11	1467138	1467139	+	Splice_Site	DEL	GT	GT	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:1467137_1467138GGT>G	uc001ltm.3	+	12	1617	c.1364_splice	c.e12+1	p.R455_splice	BRSK2_uc009ycv.1_Splice_Site_p.S409_splice|BRSK2_uc001lth.1_Splice_Site_p.R409_splice|BRSK2_uc001lti.3_Splice_Site_p.R409_splice|BRSK2_uc001ltl.3_Splice_Site_p.R409_splice|BRSK2_uc001ltj.3_Splice_Site_p.R409_splice|BRSK2_uc001ltk.3_Splice_Site|BRSK2_uc001ltn.3_Splice_Site|BRSK2_uc010qwx.2_Splice_Site	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	409	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CACGGCCAGAGGTGTGTGTGCC	0.718												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
RFX2	5990	broad.mit.edu	37	19	6004312	6004312	+	Splice_Site	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:6004311_6004311TG>T	uc002meb.3	-	13	1672	c.1403_splice	c.e13-1	p.S468_splice	RFX2_uc002mec.3_Splice_Site_p.S443_splice	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCAAGGTACCTGGGGGATACA	0.507												
NCOA5	57727	broad.mit.edu	37	20	44695696	44695699	+	Splice_Site	DEL	TGTC	TGTC	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:44695695_44695698TTGTC>T	uc002xrd.3	-	4	1157	c.629_splice	c.e4+1	p.K210_splice	NCOA5_uc002xrc.3_Splice_Site_p.K98_splice|NCOA5_uc002xre.3_Splice_Site_p.K210_splice	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGTTCTTACTTTGTCTGTTTGTTG	0.431												
SPEN	23013	broad.mit.edu	37	1	16237752	16237753	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:16237752_16237753delTT	uc001axk.1	+	5	1403_1404	c.1199_1200delTT	c.(1198-1200)CTTfs	p.L400fs	SPEN_uc010obp.1_Frame_Shift_Del_p.L359fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	400	RRM 2.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGGAAAACTTTTCTTTGGCA	0.431												
LUZP1	7798	broad.mit.edu	37	1	23418659	23418660	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:23418659_23418660insC	uc001bgk.2	-	4	2479_2480	c.2095_2096insG	c.(2095-2097)GCAfs	p.A699fs	LUZP1_uc010odv.1_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgl.2_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgm.1_Frame_Shift_Ins_p.A699fs	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	699						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)		GGTTCTAGGTGCCCCTCGGGTT	0.465												
ARID1A	8289	broad.mit.edu	37	1	27101117	27101117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:27101117delC	uc001bmv.1	+	18	4772	c.4399delC	c.(4399-4401)CCCfs	p.P1467fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P1466fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P1084fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.P313fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1467					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCTCTGCACCCCCTGGCAC	0.607			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SDC3	9672	broad.mit.edu	37	1	31349751	31349752	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:31349751_31349752insC	uc001bse.2	-	3	564_565	c.517_518insG	c.(517-519)GACfs	p.D173fs	SDC3_uc001bsd.2_Frame_Shift_Ins_p.D115fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	173	Extracellular (Potential).|Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCGGGTCCCCTGTGCTT	0.644												
ILF2	3608	broad.mit.edu	37	1	153634950	153634952	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:153634950_153634952delCTT	uc001fcr.2	-	14	1174_1176	c.1093_1095delAAG	c.(1093-1095)AAGdel	p.K365del	ILF2_uc010pdy.1_In_Frame_Del_p.K327del|ILF2_uc009wok.2_In_Frame_Del_p.K343del	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	365					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			cctctccttccttcttctCTGGT	0.296												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
TAF3	83860	broad.mit.edu	37	10	8007107	8007107	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:8007107delA	uc010qbd.1	+	3	1634	c.1634delA	c.(1633-1635)GAAfs	p.E545fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	545	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						agggagagggaaaaagacaag	0.204												
CCDC3	83643	broad.mit.edu	37	10	12940431	12940431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:12940431delG	uc001ilq.1	-	3	932	c.798delC	c.(796-798)CCCfs	p.P266fs	CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	266						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCGCAGGTAGGGGGGGCGCA	0.642												
SLIT1	6585	broad.mit.edu	37	10	98799862	98799862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:98799862delC	uc001kmw.2	-	21	2432	c.2180delG	c.(2179-2181)GGCfs	p.G727fs	SLIT1_uc009xvh.1_Frame_Shift_Del_p.G737fs	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	727	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGCAGGCAGCCCCCCTCCTC	0.697												
TCF7L2	6934	broad.mit.edu	37	10	114925622	114925622	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:114925622delC	uc001lae.3	+	14	2207	c.1700delC	c.(1699-1701)GCCfs	p.A567fs	TCF7L2_uc001lac.3_Frame_Shift_Del_p.A561fs|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Frame_Shift_Del_p.A544fs|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Frame_Shift_Del_p.A544fs|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Frame_Shift_Del_p.A499fs|TCF7L2_uc010qrs.1_Frame_Shift_Del_p.A455fs|TCF7L2_uc010qrt.1_Frame_Shift_Del_p.A455fs|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	584					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGCCTGCCGCCCCCTCCTCA	0.687												
PKP3	11187	broad.mit.edu	37	11	400055	400055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:400055delC	uc001lpc.2	+	6	1438	c.1362delC	c.(1360-1362)AGCfs	p.S454fs		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	454	ARM 4.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGTTGAGCCCCCTGTCGG	0.657												
FIBP	9158	broad.mit.edu	37	11	65653077	65653077	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:65653077delT	uc001ogd.2	-	5	691	c.570delA	c.(568-570)AAAfs	p.K190fs	FIBP_uc009yqu.2_Frame_Shift_Del_p.K187fs|FIBP_uc001oge.2_Frame_Shift_Del_p.K190fs	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	190					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		GATACTGCAGTTTTTTCTTCC	0.537											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INPPL1	3636	broad.mit.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:71948748delC	uc001osf.2	+	26	3607	c.3460delC	c.(3460-3462)CCCfs	p.P1154fs	INPPL1_uc001osg.2_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGAGCTGCAGCCCCCCCGGGG	0.697												
MMP3	4314	broad.mit.edu	37	11	102713563	102713563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:102713563delT	uc001phj.1	-	2	255	c.190delA	c.(190-192)ATCfs	p.I64fs		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	64					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTCTCGGATTTTTTTAACA	0.438												
PTPRB	5787	broad.mit.edu	37	12	70949083	70949083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:70949083delG	uc001swb.3	-	18	4376	c.4346delC	c.(4345-4347)CCTfs	p.P1449fs	PTPRB_uc010sto.1_Frame_Shift_Del_p.P1359fs|PTPRB_uc010stp.1_Frame_Shift_Del_p.P1359fs|PTPRB_uc001swc.3_Frame_Shift_Del_p.P1667fs|PTPRB_uc001swa.3_Frame_Shift_Del_p.P1579fs	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1449	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTGGAGGAGGGGGGCCTGG	0.478												
PPP1CC	5501	broad.mit.edu	37	12	111158948	111158948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:111158948delT	uc001tru.2	-	7	1150	c.905delA	c.(904-906)AAGfs	p.K302fs		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	302					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			lung(2)|central_nervous_system(1)	3						ATTTGGCTTCTTTTTCTCTGC	0.398												
PSMC6	5706	broad.mit.edu	37	14	53194281	53194281	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:53194281delA	uc010tqx.1	+	14	1158	c.1158delA	c.(1156-1158)AGAfs	p.R386fs	STYX_uc010tqy.1_5'Flank|STYX_uc001xaa.2_5'Flank|PSMC6_uc001wzy.2_RNA	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	372					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					AAGCAGTCAGAAAAGTGGCTG	0.368												
FERMT2	10979	broad.mit.edu	37	14	53386064	53386064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:53386064delT	uc001xad.2	-	3	223	c.168delA	c.(166-168)AAAfs	p.K56fs	FERMT2_uc001xac.2_Frame_Shift_Del_p.K56fs|FERMT2_uc001xae.2_Frame_Shift_Del_p.K56fs|FERMT2_uc001xaf.2_Frame_Shift_Del_p.K56fs	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	56					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CAGACCAATCTTTTTTTACAT	0.338												
RNF111	54778	broad.mit.edu	37	15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:59376343delC	uc002afv.2	+	9	2592	c.2313delC	c.(2311-2313)CGCfs	p.R771fs	RNF111_uc002afs.2_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.2_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.2_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.2_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.2_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CACATGAACGCCCCCCACCCC	0.443												
TXNDC17	84817	broad.mit.edu	37	17	6544415	6544417	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:6544415_6544417delGAG	uc002gdf.3	+	1	194_196	c.13_15delGAG	c.(13-15)GAGdel	p.E6del	KIAA0753_uc002gde.3_5'Flank|KIAA0753_uc010vte.1_5'Flank	NM_032731	NP_116120	Q9BRA2	TXD17_HUMAN	thioredoxin-like 5	6					tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity			ovary(1)	1						GGCCCGCTATGAGGAGGTGAGCG	0.650												
TP53	7157	broad.mit.edu	37	17	7577036	7577036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:7577036delG	uc002gim.2	-	8	1096	c.902delC	c.(901-903)CCAfs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P169fs|TP53_uc010cng.1_Frame_Shift_Del_p.P169fs|TP53_uc002gii.1_Frame_Shift_Del_p.P169fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P301fs|TP53_uc010cni.1_Frame_Shift_Del_p.P301fs|TP53_uc002gij.2_Frame_Shift_Del_p.P301fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	301	Interaction with HIPK1 (By similarity).|Interaction with CARM1.		P -> T (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P301fs*44(9)|p.0?(7)|p.G302fs*4(4)|p.?(3)|p.P301fs*5(3)|p.P301S(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.P301P(1)|p.L265_K305del41(1)|p.P301Q(1)|p.P301fs*45(1)|p.P301T(1)|p.G293fs*1(1)|p.P301L(1)|p.P301A(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTGCTCCCTGGGGGCAGCTC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
EPOR	2057	broad.mit.edu	37	19	11488894	11488894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:11488894delG	uc002mrj.1	-	8	1429	c.1293delC	c.(1291-1293)CCCfs	p.P431fs	EPOR_uc002mrh.2_Frame_Shift_Del_p.P90fs|EPOR_uc002mri.2_Frame_Shift_Del_p.P258fs|EPOR_uc002mrk.1_Frame_Shift_Del_p.P258fs|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Frame_Shift_Del_p.P258fs	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	431	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCTGGGAGCTGGGGTCCAGGA	0.582											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PHLDB3	653583	broad.mit.edu	37	19	44005952	44005954	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:44005952_44005954delCTC	uc002own.3	-	4	725_727	c.466_468delGAG	c.(466-468)GAGdel	p.E156del	PHLDB3_uc002owo.2_In_Frame_Del_p.E156del	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	156	Potential.										0		Prostate(69;0.0153)				CCCGCAGCTGCTCCTCCTCCCGG	0.704												
NEB	4703	broad.mit.edu	37	2	152363488	152363488	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:152363488delT	uc010fnx.2	-	135	18579	c.18388delA	c.(18388-18390)ATTfs	p.I6130fs	NEB_uc002txr.2_Frame_Shift_Del_p.I2553fs|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_5'UTR|NEB_uc002txt.3_Frame_Shift_Del_p.I635fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6130	Nebulin 168.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAACTGTAATTTTTCCTTTA	0.308												
SCN11A	11280	broad.mit.edu	37	3	38951623	38951623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:38951623delA	uc011ays.1	-	8	1234	c.1035delT	c.(1033-1035)TTTfs	p.F345fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	345	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGACCAGCCAAAGTTGTCAA	0.333												
USP19	10869	broad.mit.edu	37	3	49153503	49153503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:49153503delC	uc003cwd.1	-	9	1306	c.1145delG	c.(1144-1146)GGCfs	p.G382fs	USP19_uc003cwa.2_Frame_Shift_Del_p.G188fs|USP19_uc003cvz.3_Frame_Shift_Del_p.G483fs|USP19_uc011bcg.1_Frame_Shift_Del_p.G473fs|USP19_uc003cwb.2_Frame_Shift_Del_p.G468fs|USP19_uc003cwc.1_Frame_Shift_Del_p.G138fs|USP19_uc011bch.1_Frame_Shift_Del_p.G483fs|USP19_uc011bci.1_Frame_Shift_Del_p.G468fs	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	382	CS 2.|Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCTCCAGGCCCCCCCAGCG	0.602												
DAG1	1605	broad.mit.edu	37	3	49568688	49568688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:49568688delA	uc003cxc.3	+	3	1162	c.744delA	c.(742-744)GCAfs	p.A248fs		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	248	Required for laminin recognition.			A -> P (in Ref. 1; AAA81779).	cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGGGAAATGCAAAAAAGGTGG	0.527												
BAP1	8314	broad.mit.edu	37	3	52440912	52440912	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:52440912delC	uc003ddx.2	-	8	707	c.592delG	c.(592-594)GAGfs	p.E198fs	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	198					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCTCGTCCTCCCCCCAGGGC	0.607			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
C3orf15	89876	broad.mit.edu	37	3	119459550	119459550	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:119459550delT	uc010hqy.1	+	13	1765	c.1688delT	c.(1687-1689)CTTfs	p.L563fs	C3orf15_uc003ede.3_Intron|C3orf15_uc010hqz.2_Intron|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Intron|C3orf15_uc010hra.1_Frame_Shift_Del_p.L324fs	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	399	Potential.					mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AAGGTTTTCCTTTTTTTGTTT	0.363												
MED12L	116931	broad.mit.edu	37	3	150845627	150845627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:150845627delA	uc003eyp.2	+	4	450	c.412delA	c.(412-414)AAAfs	p.K138fs	MED12L_uc011bnz.1_Frame_Shift_Del_p.K138fs|MED12L_uc003eym.1_Frame_Shift_Del_p.K138fs|MED12L_uc003eyn.2_Frame_Shift_Del_p.K138fs|MED12L_uc003eyo.2_Frame_Shift_Del_p.K138fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	138					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATCCTTAGTAAAAAAGAGGA	0.333												
KIAA1712	80817	broad.mit.edu	37	4	175220290	175220290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:175220290delA	uc003itr.2	+	3	432	c.18delA	c.(16-18)TTAfs	p.L6fs	KIAA1712_uc010iro.2_Frame_Shift_Del_p.L6fs|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	6						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		CAGGTGACTTAAAAAGAAGCT	0.363												
RBM22	55696	broad.mit.edu	37	5	150072483	150072483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:150072483delG	uc003lst.2	-	10	1228	c.1106delC	c.(1105-1107)CCTfs	p.P369fs		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	369	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAATGCCAGGGGGCGGTGG	0.537												
RIOK1	83732	broad.mit.edu	37	6	7417589	7417589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:7417589delC	uc003mxn.2	+	17	1796	c.1622delC	c.(1621-1623)GCCfs	p.A541fs	RIOK1_uc003mxo.2_Frame_Shift_Del_p.A300fs	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	541							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					GTCAAGGAAGCCCAGAGAGAG	0.289												
JARID2	3720	broad.mit.edu	37	6	15511598	15511598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:15511598delC	uc003nbj.2	+	13	3162	c.2918delC	c.(2917-2919)ACCfs	p.T973fs	JARID2_uc011div.1_Frame_Shift_Del_p.T801fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	973	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCAATGGCACCCCAGGGCTG	0.557												
HLA-B	3106	broad.mit.edu	37	6	31322269	31322270	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:31322269_31322270delGA	uc003nth.2	-	7	1133_1134	c.1079_1080delTC	c.(1078-1080)CTCfs	p.L360fs	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_RNA|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Del_p.L239fs|HLA-B_uc003nti.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	360	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TTCAAGCTGTGAGAGACACATC	0.589									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
TCP11	6954	broad.mit.edu	37	6	35096881	35096882	+	Frame_Shift_Ins	INS	-	-	G	rs11539274		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:35096881_35096882insG	uc003okd.2	-	4	534_535	c.353_354insC	c.(352-354)CCTfs	p.P118fs	TCP11_uc003ojz.1_Frame_Shift_Ins_p.P43fs|TCP11_uc003oka.2_Frame_Shift_Ins_p.P43fs|TCP11_uc003okb.2_Frame_Shift_Ins_p.P42fs|TCP11_uc003okc.2_Frame_Shift_Ins_p.P42fs|TCP11_uc011dsu.1_Frame_Shift_Ins_p.P100fs|TCP11_uc011dsv.1_Frame_Shift_Ins_p.P67fs|TCP11_uc011dsw.1_Frame_Shift_Ins_p.P72fs	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	105					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						AGCTGAAGTCAGGGGGAGTTGC	0.431												
TBC1D22B	55633	broad.mit.edu	37	6	37250063	37250063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:37250063delC	uc003onn.2	+	4	670	c.524delC	c.(523-525)GCCfs	p.A175fs	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	175						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCTTCTGGGGCCCCCCCAATG	0.572												
PRICKLE4	29964	broad.mit.edu	37	6	41752759	41752759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:41752759delG	uc011duf.1	+	5	575	c.327delG	c.(325-327)CAGfs	p.Q109fs	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	69	PET.					nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTGGGACAGGGGGTAGCCC	0.612												
TTBK1	84630	broad.mit.edu	37	6	43227330	43227330	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:43227330delC	uc003ouq.1	+	12	1589	c.1310delC	c.(1309-1311)GCCfs	p.A437fs		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGTGCGTGCCCCCCCAGAC	0.672												
COL19A1	1310	broad.mit.edu	37	6	70639396	70639396	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:70639396delT	uc003pfc.1	+	6	587	c.470delT	c.(469-471)ATTfs	p.I157fs	COL19A1_uc010kam.1_Frame_Shift_Del_p.I53fs	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	157	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TTGAACTACATTTTTAGAAAT	0.368												
KIAA0776	23376	broad.mit.edu	37	6	96986656	96986656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:96986656delC	uc003por.2	+	10	1176	c.1128delC	c.(1126-1128)TTCfs	p.F376fs	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	376					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CAGAACTGTTCCGTGAGCTGA	0.373												
HS3ST5	222537	broad.mit.edu	37	6	114378456	114378456	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:114378456delA	uc003pwg.3	-	2	1038	c.1006delT	c.(1006-1008)TACfs	p.Y336fs	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Frame_Shift_Del_p.Y336fs	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	336	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGATCTGGTAAAATTTTTGA	0.428												
ABCB4	5244	broad.mit.edu	37	7	87032452	87032452	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:87032452delT	uc003uiv.1	-	27	3729	c.3653delA	c.(3652-3654)AAGfs	p.K1218fs	ABCB4_uc003uiw.1_Frame_Shift_Del_p.K1211fs|ABCB4_uc003uix.1_Frame_Shift_Del_p.K1164fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1218	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)					CACACACACCTTTTCACTTTC	0.423												
SLC7A13	157724	broad.mit.edu	37	8	87229783	87229784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:87229783_87229784insA	uc003ydq.1	-	3	1192_1193	c.1094_1095insT	c.(1093-1095)TTCfs	p.F365fs	SLC7A13_uc003ydr.1_Frame_Shift_Ins_p.F356fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	365	Helical; Name=10; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						ATGAACCCGTGAAAAAAATATA	0.337												
B4GALT1	2683	broad.mit.edu	37	9	33115994	33115994	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:33115994delA	uc003zsg.2	-	4	1143	c.954delT	c.(952-954)TTTfs	p.F318fs		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	318	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	ATTACCTGTTAAAAATGTCAT	0.398												
SLC35D2	11046	broad.mit.edu	37	9	99098997	99098998	+	Splice_Site	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:99098997_99098998insC	uc004awc.2	-	9	828	c.752_splice	c.e9+1	p.G251_splice	SLC35D2_uc010msd.2_Splice_Site|SLC35D2_uc010mse.2_Splice_Site_p.G204_splice|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2							Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				ATGGTTTCTTACCCCAAAAAAC	0.327												
KDM6A	7403	broad.mit.edu	37	X	44935952	44935952	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:44935952delA	uc004dge.3	+	18	3088	c.2713delA	c.(2713-2715)AAAfs	p.K905fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.K871fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.K957fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.K860fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.K912fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.K609fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.K544fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	905					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GAATCTAGGTAAAAATGGCTT	0.338			D|N|F|S		renal|oesophageal SCC|MM							
IL2RG	3561	broad.mit.edu	37	X	70327614	70327614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:70327614delG	uc004dyw.1	-	8	1096	c.1082delC	c.(1081-1083)CCAfs	p.P361fs	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Frame_Shift_Del_p.P90fs|IL2RG_uc004dyx.1_Frame_Shift_Del_p.P171fs	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	361	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGTAACATGGGGGGGCCCA	0.582									Severe_Combined_Immunodeficiency_X-linked			
TAS1R3	83756	broad.mit.edu	37	1	1266787	1266787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:1266786_1266786GC>G	uc010nyk.2	+	0	61	c.61_61GC>G	c.(61-63)gccfs	p.A21fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	21					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGGGACGGGGGCCCCATTGTG	0.692												
KIAA1751	85452	broad.mit.edu	37	1	1900173	1900173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:1900172_1900172TG>T	uc001aim.1	-	10	1303	c.1147_1147CA>A	c.(1147-1149)accfs	p.T383fs	KIAA1751_uc009vkz.1_Frame_Shift_Del_p.T383fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	383										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTGGCACTGGTGGGGGGATGC	0.532												
CHD5	26038	broad.mit.edu	37	1	6212502	6212502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:6212501_6212501TC>T	uc001amb.2	-	5	952	c.841_841GA>A	c.(841-843)atcfs	p.I281fs		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	281	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTTGCTGATCCCCCCGAAG	0.547												
LUZP1	7798	broad.mit.edu	37	1	23418660	23418661	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:23418659_23418660G>GC	uc001bgk.2	-	3	2645_2646	c.2095_2096C>GC	c.(2095-2097)gcafs	p.A699fs	LUZP1_uc010odv.1_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgl.3_Frame_Shift_Ins_p.A699fs|LUZP1_uc001bgm.1_Frame_Shift_Ins_p.A699fs	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	699						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		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)		GGTTCTAGGTGCCCCTCGGGTT	0.465												
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcag	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
SDC3	9672	broad.mit.edu	37	1	31349752	31349753	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:31349751_31349752T>TC	uc001bse.2	-	2	564_565	c.517_518A>GA	c.(517-519)gacfs	p.D173fs	SDC3_uc001bsd.2_Frame_Shift_Ins_p.D115fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	173	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCGGGTCCCCTGTGCTT	0.644												
HIVEP3	59269	broad.mit.edu	37	1	42048809	42048809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:42048808_42048808TG>T	uc001cgz.4	-	3	2874	c.1661_1661CA>A	c.(1660-1662)cacfs	p.H554fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.H554fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	554	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGGGGTGGTGGGGGGTGCT	0.627												
PTGFRN	5738	broad.mit.edu	37	1	117484649	117484649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:117484648_117484648AC>A	uc001egv.1	+	1	498	c.361_361AC>A	c.(361-363)accfs	p.T121fs		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	121	Ig-like C2-type 1.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAAATGTTCAACCCCCAGCAC	0.552												
LCE2B	26239	broad.mit.edu	37	1	152659638	152659638	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:152659637_152659637TG>T	uc001fai.3	+	1	372	c.318_318TG>T	c.(316-318)tctfs	p.S106fs	LCE2B_uc021ozd.1_Frame_Shift_Del_p.S106fs	NM_014357	NP_055172	O14633	LCE2B_HUMAN	Homo sapiens late cornified envelope 2B (LCE2B), mRNA.	106	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACAGCTCTGGGGGCTGCT	0.582												
NES	10763	broad.mit.edu	37	1	156640235	156640235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:156640234_156640234AC>A	uc001fpq.3	-	3	3879	c.3746_3746GT>T	c.(3745-3747)gtgfs	p.V1249fs	NES_uc021pbh.1_Frame_Shift_Del_p.V167fs	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1249	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|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			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCCTGCACCCCCCAGCT	0.667												
NTRK1	4914	broad.mit.edu	37	1	156846308	156846308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:156846307_156846307GC>G	uc001fqh.1	+	13	1804	c.1748_1748GC>G	c.(1747-1749)cgcfs	p.R583fs	NTRK1_uc001fqf.1_Frame_Shift_Del_p.R547fs|NTRK1_uc009wsi.1_Frame_Shift_Del_p.R282fs|NTRK1_uc001fqi.1_Frame_Shift_Del_p.R577fs|NTRK1_uc009wsk.1_Frame_Shift_Del_p.R580fs	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	583	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R583G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCGAGGGCCGCCCCCTGCTC	0.662			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)		
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582												
KDM5B	10765	broad.mit.edu	37	1	202731839	202731839	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:202731838_202731838CT>C	uc009xag.3	-	7	1131	c.1015_1015AG>G	c.(1015-1017)gccfs	p.A339fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.A303fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.A145fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	303					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATTGGTGGCTTTTTTAGAT	0.383												
ATP2B4	493	broad.mit.edu	37	1	203667346	203667346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:203667345_203667345TC>T	uc001gzw.3	+	2	1151	c.254_254TC>T	c.(253-255)atcfs	p.I85fs	ATP2B4_uc001gzv.3_Frame_Shift_Del_p.I85fs|ATP2B4_uc009xaq.3_Frame_Shift_Del_p.I85fs	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAA	0.478												
LYST	1130	broad.mit.edu	37	1	235973738	235973741	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:235973737_235973740ACTTC>A	uc001hxj.2	-	4	553_556	c.378_381GAAGT>T	c.(376-381)ggaagtfs	p.G126fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Del_p.G126fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	126					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAGACAGGGCACTTCCTTCTAAAT	0.377												
RYR2	6262	broad.mit.edu	37	1	237617790	237617790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:237617789_237617789AC>A	uc001hyl.1	+	14	1511	c.1391_1391AC>A	c.(1390-1392)cacfs	p.H464fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	464					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTACTTCCACCCCCCAGAT	0.488												
FMN2	56776	broad.mit.edu	37	1	240492398	240492398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:240492397_240492397GA>G	uc010pye.2	+	9	4474	c.4249_4249GA>G	c.(4249-4251)gaafs	p.E1417fs	FMN2_uc010pyd.2_Frame_Shift_Del_p.E1413fs|FMN2_uc010pyf.1_Frame_Shift_Del_p.E59fs|FMN2_uc010pyg.2_Frame_Shift_Del_p.E9fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1413	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1416V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGACGAACTCGAAAAAATAGA	0.378												
OR2W3	343171	broad.mit.edu	37	1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:248059732_248059732AC>A	uc010pzb.2	+	0	844	c.844_844AC>A	c.(844-846)accfs	p.T282fs	OR2W3_uc001idp.1_Frame_Shift_Del_p.T282fs	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAACATTGTCACCCCCCTCCT	0.512												
OR2T4	127074	broad.mit.edu	37	1	248525681	248525681	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr1:248525680_248525680GA>G	uc001ieh.1	+	0	798	c.798_798GA>G	c.(796-798)cggfs	p.R266fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGCCGGAAAAAGGCCT	0.552												
SLC4A1AP	22950	broad.mit.edu	37	2	27887073	27887073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:27887072_27887072TC>T	uc002rlk.4	+	0	735	c.453_453TC>T	c.(451-453)gctfs	p.A151fs	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	151						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAGCCCGGGCTCCCCCCTACC	0.647												
PTCD3	55037	broad.mit.edu	37	2	86352984	86352984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:86352983_86352983GA>G	uc002sqw.2	+	11	997	c.931_931GA>G	c.(931-933)gaafs	p.E311fs	PTCD3_uc010ytc.1_Non-coding_Transcript|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	311						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAATTTGAGGAAAAATGGAG	0.333												
CALCRL	10203	broad.mit.edu	37	2	188217046	188217046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:188217045_188217045GA>G	uc010frt.3	-	11	1307	c.924_924TC>C	c.(922-924)ttcfs	p.F308fs	CALCRL_uc002upv.4_Frame_Shift_Del_p.F308fs	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	308						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TATTTAACAAGAAAAAAAGAT	0.308												
KCTD18	130535	broad.mit.edu	37	2	201369472	201369472	+	Splice_Site	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr2:201369471_201369471CT>C	uc002uvs.3	-	3	889	c.372_splice	c.e3+1	p.K124_splice	KCTD18_uc002uvt.3_Splice_Site_p.K124_splice|KCTD18_uc002uvu.1_Splice_Site_p.K124_splice	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	124						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGCCAAGACCTTTTTAAGTT	0.328												
FANCD2	2177	broad.mit.edu	37	3	10078012	10078012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:10078011_10078011AT>A	uc003buw.3	+	6	557	c.479_479AT>A	c.(478-480)tatfs	p.Y160fs	FANCD2_uc003bux.1_Frame_Shift_Del_p.Y160fs|FANCD2_uc003buy.1_Frame_Shift_Del_p.Y160fs|FANCD2_uc003buv.3_Frame_Shift_Del_p.Y160fs	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	160	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGCCAGAATATTTTTTTGAA	0.328			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
PPARG	5468	broad.mit.edu	37	3	12434182	12434182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:12434181_12434181CA>C	uc003bwx.3	+	3	640	c.549_549CA>C	c.(547-549)cacfs	p.H183fs	PPARG_uc003bwr.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bws.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwu.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwv.3_Frame_Shift_Del_p.H155fs|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Frame_Shift_Del_p.H155fs|PPARG_uc003bww.1_Frame_Shift_Del_p.H183fs	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	183					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GTCGGATCCACAAAAAAAGTA	0.363			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""					
GLT8D1	55830	broad.mit.edu	37	3	52731828	52731829	+	Frame_Shift_Ins	INS	-	-	C	rs115960994	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:52731827_52731828G>GC	uc003dfi.4	-	3	469_470	c.238_239C>GC	c.(238-240)gccfs	p.A80fs	GLT8D1_uc003dfk.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfl.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfm.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfn.3_Frame_Shift_Ins_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	80						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGCAATGGCCCCCCCAAGC	0.485												
ARL13B	200894	broad.mit.edu	37	3	93761986	93761987	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:93761985_93761986C>CA	uc003drc.3	+	6	1210_1211	c.925_926C>CA	c.(925-927)caafs	p.Q309fs	ARL13B_uc010hop.3_Frame_Shift_Ins_p.Q160fs|ARL13B_uc003drf.3_Frame_Shift_Ins_p.Q309fs|ARL13B_uc003drg.3_Frame_Shift_Ins_p.Q206fs|ARL13B_uc003drd.3_Frame_Shift_Ins_p.Q202fs|ARL13B_uc003dre.3_Frame_Shift_Ins_p.Q294fs	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	309							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TCACAATGGCCAAAAAAATAAT	0.381												
ATP6V1A	523	broad.mit.edu	37	3	113508677	113508680	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:113508676_113508679CTATT>C	uc003eao.3	+	7	1085_1088	c.977_980CTATT>C	c.(976-981)tctattfs	p.S326fs	ATP6V1A_uc011bik.2_Frame_Shift_Del_p.S293fs	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	326					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGAAGCCTCTATTTATACTGGT	0.373												
ADCY5	111	broad.mit.edu	37	3	123044231	123044231	+	Frame_Shift_Del	DEL	C	C	-	rs151195921		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:123044230_123044230GC>G	uc003egh.2	-	7	2027	c.2027_2027GC>C	c.(2026-2028)gctfs	p.A676fs	ADCY5_uc021xdd.1_Frame_Shift_Del_p.A326fs|ADCY5_uc003egg.2_Frame_Shift_Del_p.A309fs|ADCY5_uc003egi.1_Frame_Shift_Del_p.A235fs	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	676					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGGGCGCTCAGCCCCCCAGTG	0.587												
ZNF148	7707	broad.mit.edu	37	3	124952718	124952719	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr3:124952717_124952718G>GT	uc003ehx.4	-	8	1338_1339	c.852_853C>AC	c.(850-855)aaactafs	p.K284fs	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Frame_Shift_Ins_p.K284fs|ZNF148_uc010hsa.3_Frame_Shift_Ins_p.K284fs|ZNF148_uc003eia.4_Frame_Shift_Ins_p.K284fs|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	284					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CATCTATTTAGTTTTTTGTCAT	0.381												
KLHL5	51088	broad.mit.edu	37	4	39116879	39116879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:39116878_39116878TG>T	uc003gtr.2	+	9	2422	c.2139_2139TG>T	c.(2137-2139)gttfs	p.V713fs	KLHL5_uc003gtp.3_Frame_Shift_Del_p.V667fs|KLHL5_uc003gtq.3_Frame_Shift_Del_p.V526fs|KLHL5_uc003gts.3_Frame_Shift_Del_p.V713fs|KLHL5_uc003gtt.3_Frame_Shift_Del_p.V652fs	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	713						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATATGCTGTTGGGGGGTATG	0.453												
C4orf40	401137	broad.mit.edu	37	4	71024318	71024318	+	Frame_Shift_Del	DEL	T	T	-	rs148239542		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:71024317_71024317GT>G	uc003hfa.4	+	3	421	c.348_348GT>G	c.(346-348)aggfs	p.R116fs	C4orf40_uc003hfb.4_Frame_Shift_Del_p.R116fs	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAG	0.547												
WDFY3	23001	broad.mit.edu	37	4	85676453	85676454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:85676452_85676453T>TA	uc003hpd.3	-	33	5933_5934	c.5525_5526A>TA	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAGC	0.421												
ARHGAP24	83478	broad.mit.edu	37	4	86916554	86916554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:86916553_86916553CT>C	uc003hpk.3	+	8	2195	c.1746_1746CT>C	c.(1744-1746)gacfs	p.D582fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.D487fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.D497fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.D489fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	582					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CAGAGCAAGACTTTTTTGGGG	0.552												
ADAD1	132612	broad.mit.edu	37	4	123302211	123302212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:123302210_123302211C>CA	uc003ieo.3	+	3	468_469	c.236_237C>CA	c.(235-237)ccafs	p.P79fs	ADAD1_uc003iep.3_Frame_Shift_Ins_p.P79fs|ADAD1_uc003ieq.3_Frame_Shift_Ins_p.P61fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	79					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCCTTCCTCCAAAAAAAATAC	0.356												
PHF17	79960	broad.mit.edu	37	4	129783052	129783052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr4:129783051_129783051TC>T	uc011cgy.2	+	8	1488	c.1174_1174TC>T	c.(1174-1176)tccfs	p.S392fs	PHF17_uc003igj.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igk.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igl.3_Frame_Shift_Del_p.S380fs|PHF17_uc003igm.3_Frame_Shift_Del_p.S392fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTGAGTGTTCCCCCCGGAA	0.597												
RASA1	5921	broad.mit.edu	37	5	86564686	86564687	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:86564685_86564686T>TC	uc003kiw.3	+	0	616_617	c.417_418T>TC	c.(415-420)cctcccfs	p.P139fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_5'Flank|RASA1_uc011ctv.2_5'Flank|RASA1_uc011ctw.2_5'Flank|RASA1_uc010jaw.3_5'Flank	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	139	Poly-Pro.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTCTGCCCCCTCCCCCTTACCT	0.619												
DMXL1	1657	broad.mit.edu	37	5	118465026	118465026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:118465025_118465025GT>G	uc010jcl.1	+	9	1403	c.1222_1222GT>G	c.(1222-1224)gttfs	p.V408fs	DMXL1_uc003ksd.2_Frame_Shift_Del_p.V408fs|DMXL1_uc021ycw.1_Frame_Shift_Del_p.V235fs|DMXL1_uc003ksc.1_Frame_Shift_Del_p.V408fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	408										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCATGGAAGTTTTTTTACA	0.348												
PCDHB9	56127	broad.mit.edu	37	5	140567312	140567312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140567311_140567311TA>T	uc003liw.1	+	0	419	c.419_419TA>T	c.(418-420)ttafs	p.L140fs		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	140	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATGGTCTTAAAAATATCA	0.413												
PCDHGC5	56097	broad.mit.edu	37	5	140857728	140857728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:140857727_140857727GC>G	uc003lkv.2	+	0	2159	c.2044_2044GC>G	c.(2044-2046)gccfs	p.A682fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.A682fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGA	0.512											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RUFY1	80230	broad.mit.edu	37	5	179034632	179034634	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr5:179034631_179034633GAGA>G	uc003mka.1	+	16	1954_1956	c.1954_1956GAGA>G	c.(1954-1956)gag>G	p.E652del	RUFY1_uc003mkb.1_In_Frame_Del_p.E544del|RUFY1_uc003mkc.1_In_Frame_Del_p.E544del|RUFY1_uc003mkd.1_In_Frame_Del_p.E254del	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	652					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCAGTGTGAGAAGGAGTTCT	0.557										HNSCC(44;0.11)		
TCP11	6954	broad.mit.edu	37	6	35096882	35096883	+	Frame_Shift_Ins	INS	-	-	G	rs11539274		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:35096881_35096882A>AG	uc003okd.2	-	3	534_535	c.353_354T>CT	c.(352-354)cctfs	p.P118fs	TCP11_uc003ojz.1_Frame_Shift_Ins_p.P43fs|TCP11_uc003oka.2_Frame_Shift_Ins_p.P43fs|TCP11_uc003okb.2_Frame_Shift_Ins_p.P42fs|TCP11_uc011dsu.1_Frame_Shift_Ins_p.P100fs|TCP11_uc003okc.2_Frame_Shift_Ins_p.P42fs|TCP11_uc011dsv.1_Frame_Shift_Ins_p.P67fs|TCP11_uc011dsw.1_Frame_Shift_Ins_p.P72fs	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	105					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGCTGAAGTCAGGGGGAGTTGC	0.431												
MED23	9439	broad.mit.edu	37	6	131914220	131914222	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:131914219_131914221AAGT>A	uc003qcs.1	-	23	3497_3499	c.3323_3325ACTT>T	c.(3322-3327)acttgt>aTgt	p.1108_1109TC>M	MED23_uc003qcq.3_In_Frame_Del_p.1114_1115TC>M|MED23_uc003qcr.1_5'UTR	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	1108					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.T1108T(2)|p.T1114T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGCTCCACACAAGTAACATGGAG	0.478												
ARID1B	57492	broad.mit.edu	37	6	157522190	157522190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr6:157522189_157522189GC>G	uc003qqp.3	+	16	4422	c.4422_4422GC>G	c.(4420-4422)gcgfs	p.A1474fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.A1487fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.A1527fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1474	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTACACAGGCGCCCCCTTACC	0.587												
COBL	23242	broad.mit.edu	37	7	51287562	51287562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:51287561_51287561TG>T	uc003tps.3	-	1	307	c.122_122CA>A	c.(121-123)cacfs	p.H41fs	COBL_uc003tpr.4_Frame_Shift_Del_p.H41fs|COBL_uc011kcl.2_Frame_Shift_Del_p.H41fs|COBL_uc010kzc.3_Frame_Shift_Del_p.H41fs|COBL_uc003tpt.3_Frame_Shift_Del_p.H41fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTT	0.602												
MLL3	58508	broad.mit.edu	37	7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma							
LZTS1	11178	broad.mit.edu	37	8	20110677	20110677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:20110676_20110676TG>T	uc003wzr.3	-	1	877	c.766_766CA>A	c.(766-768)atcfs	p.I256fs	LZTS1_uc010ltg.2_Frame_Shift_Del_p.I256fs	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	256					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCGTGGAGATGGGGGAGCGG	0.617												
KCTD9	54793	broad.mit.edu	37	8	25293788	25293788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:25293787_25293787CA>C	uc003xeo.3	-	7	849	c.627_627TG>G	c.(625-627)ttgfs	p.L209fs	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_5'Flank	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	209						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GAGTTGCTAGCAAAAATCGGA	0.363												
POLB	5423	broad.mit.edu	37	8	42213041	42213041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:42213040_42213040GA>G	uc003xoz.2	+	6	547	c.377_377GA>G	c.(376-378)agafs	p.R126fs	POLB_uc011lcs.2_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	126					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	p.L125F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACAGATCTCAGAAAAAATGAA	0.303								DNA polymerases (catalytic subunits)				
RPS20	6224	broad.mit.edu	37	8	56986697	56986697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:56986696_56986696GT>G	uc003xsm.2	-	1	224	c.26_26AC>C	c.(25-27)acafs	p.T9fs	RPS20_uc003xsn.2_Frame_Shift_Del_p.T9fs|SNORD54_uc003xso.1_5'Flank|RPS20_uc011lea.1_5'Flank	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	9					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCCACGGGTGTTTTTCCGGT	0.463												
STAU2	27067	broad.mit.edu	37	8	74507471	74507472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:74507470_74507471A>AT	uc003xzm.3	-	10	1432_1433	c.1091_1092T>AT	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Ins_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Ins_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Ins_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Ins_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Ins_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Ins_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Ins_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327												
SLC7A13	157724	broad.mit.edu	37	8	87229784	87229785	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:87229783_87229784G>GA	uc003ydq.1	-	2	1192_1193	c.1094_1095C>TC	c.(1093-1095)ttcfs	p.F365fs	SLC7A13_uc003ydr.1_Frame_Shift_Ins_p.F356fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	365						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATATA	0.337												
EIF3E	3646	broad.mit.edu	37	8	109247236	109247236	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:109247235_109247235TA>T	uc003ymu.3	-	4	491	c.463_463TA>A	c.(463-465)agafs	p.R155fs	EIF3E_uc003ymt.3_Frame_Shift_Del_p.R106fs|EIF3E_uc010mcj.1_Frame_Shift_Del_p.R155fs	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	155	Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ACCAGCACTCTAAAAAAATAA	0.308												
TAF2	6873	broad.mit.edu	37	8	120797490	120797490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:120797489_120797489AT>A	uc003you.3	-	14	2081	c.1811_1811AT>T	c.(1810-1812)atcfs	p.I604fs		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	604				I -> K (in Ref. 6; AAH35673/AAH47732).	G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.I604I(1)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCAGTGGGATTTTTTTCTT	0.289												
SHARPIN	81858	broad.mit.edu	37	8	145153900	145153900	+	Splice_Site	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr8:145153899_145153899TG>T	uc003zba.3	-	8	1532	c.1048_splice	c.e8-1	p.P350_splice	SHARPIN_uc003zbb.3_Splice_Site	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	350					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCTGGGCTGGGGGAAGAG	0.632												
RFX3	5991	broad.mit.edu	37	9	3277342	3277343	+	Splice_Site	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:3277341_3277342T>TA	uc003zhr.3	-	9	1285	c.973_splice	c.e9+1	p.D325_splice	RFX3_uc010mhd.3_Splice_Site_p.D325_splice|RFX3_uc003zhs.1_Splice_Site_p.D325_splice|RFX3_uc003zht.1_Splice_Site_p.D325_splice|RFX3_uc010mhe.1_Splice_Site_p.D300_splice	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	325					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTAACATACCTAAAAACTGTTG	0.386												
NAA35	60560	broad.mit.edu	37	9	88631578	88631578	+	Frame_Shift_Del	DEL	A	A	-	rs140184707		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:88631577_88631577GA>G	uc004aoi.4	+	17	1829	c.1692_1692GA>G	c.(1690-1692)aagfs	p.K564fs	NAA35_uc004aoj.4_Frame_Shift_Del_p.K564fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	564					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.K564K(2)|p.T563K(1)|p.T563fs*10(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AAAAAACAAAGAAAAAAAAGA	0.383												
ZNF462	58499	broad.mit.edu	37	9	109689491	109689492	+	Frame_Shift_Ins	INS	-	-	C	rs76712188		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:109689490_109689491A>AC	uc004bcz.3	+	2	3586_3587	c.3297_3298A>AC	c.(3295-3300)ccacccfs	p.P1099fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Ins_p.P947fs|ZNF462_uc004bda.3_Frame_Shift_Ins_p.P947fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1099					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1100T(2)|p.P1099P(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGGTTCCCCACCCCCCCCACA	0.530												
SETX	23064	broad.mit.edu	37	9	135201742	135201742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:135201741_135201741GA>G	uc004cbk.3	-	9	5427	c.5244_5244TC>C	c.(5242-5244)ttcfs	p.F1748fs	SETX_uc004cbj.3_Frame_Shift_Del_p.F1367fs|SETX_uc010mzt.3_Frame_Shift_Del_p.F1367fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1748					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L1750fs*8(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCATCAAAGGGAAAAAAACAT	0.378												
WDR5	11091	broad.mit.edu	37	9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137019597_137019597AC>A	uc004cey.3	+	9	812	c.641_641AC>A	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTG	0.627												
COL5A1	1289	broad.mit.edu	37	9	137642390	137642391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:137642389_137642390G>GC	uc004cfe.3	+	11	1878_1879	c.1496_1497G>GC	c.(1495-1497)ggcfs	p.G499fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	499	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P501fs*57(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGTCTTCAGGGCCCCCCTGGAC	0.663												
EHMT1	79813	broad.mit.edu	37	9	140707505	140707506	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr9:140707504_140707505GGA>G	uc011mfc.2	+	19	2951_2952	c.2914_2915GGA>G	c.(2914-2916)ggafs	p.G972fs	EHMT1_uc004coe.3_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	972					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAACAAGGAAGGAGAGACGCCC	0.525												
CUBN	8029	broad.mit.edu	37	10	17085918	17085918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:17085917_17085917AG>A	uc001ioo.3	-	25	3790	c.3738_3738CT>T	c.(3736-3738)cctfs	p.P1246fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1246	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACGAATAAGAGGGGGTTTCT	0.433												
WAPAL	23063	broad.mit.edu	37	10	88260443	88260444	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:88260442_88260443A>AT	uc001kdn.3	-	3	695_696	c.686_687T>AT	c.(685-687)aatfs	p.N229fs	WAPAL_uc001kdo.3_Frame_Shift_Ins_p.N186fs|WAPAL_uc009xsw.3_Frame_Shift_Ins_p.N186fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	186	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTCATCAGCATTTTTGTGAAT	0.356												
KIF20B	9585	broad.mit.edu	37	10	91514321	91514321	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:91514320_91514320GA>G	uc001kgs.1	+	25	4465	c.4393_4393GA>G	c.(4393-4395)gaafs	p.E1465fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.E1425fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.E676fs|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1465					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATGGTTAGAAGAAAAAATGAT	0.323												
EXOC6	54536	broad.mit.edu	37	10	94654754	94654754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:94654753_94654753GA>G	uc010qnr.2	+	4	579	c.436_436GA>G	c.(436-438)gaafs	p.E146fs	EXOC6_uc001kie.3_Frame_Shift_Del_p.E125fs|EXOC6_uc001kif.4_Frame_Shift_Del_p.E130fs|EXOC6_uc001kig.3_Frame_Shift_Del_p.E130fs|EXOC6_uc009xub.3_Frame_Shift_Del_p.E130fs|EXOC6_uc009xuc.3_Frame_Shift_Del_p.E130fs	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	130					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AACTGTAGTAGAAAAATTGCA	0.308												
MYOF	26509	broad.mit.edu	37	10	95113648	95113648	+	Splice_Site	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343												
SH3PXD2A	9644	broad.mit.edu	37	10	105484098	105484099	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr10:105484097_105484098T>TG	uc010qqu.1	-	2	185_186	c.118_119A>CA	c.(118-120)cacfs	p.H40fs	SH3PXD2A_uc001kxj.1_Frame_Shift_Ins_p.H110fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	110	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535												
BRSK2	9024	broad.mit.edu	37	11	1467138	1467139	+	Splice_Site	DEL	GT	GT	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:1467137_1467138GGT>G	uc001ltm.3	+	12	1617	c.1364_splice	c.e12+1	p.R455_splice	BRSK2_uc009ycv.1_Splice_Site_p.S409_splice|BRSK2_uc001lth.1_Splice_Site_p.R409_splice|BRSK2_uc001lti.3_Splice_Site_p.R409_splice|BRSK2_uc001ltl.3_Splice_Site_p.R409_splice|BRSK2_uc001ltj.3_Splice_Site_p.R409_splice|BRSK2_uc001ltk.3_Splice_Site|BRSK2_uc001ltn.3_Splice_Site|BRSK2_uc010qwx.2_Splice_Site	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	409	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CACGGCCAGAGGTGTGTGTGCC	0.718												
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation			
PHF21A	51317	broad.mit.edu	37	11	45955607	45955607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:45955606_45955606AG>A	uc001ncc.4	-	17	2580	c.1956_1956CT>T	c.(1954-1956)cctfs	p.P652fs	PHF21A_uc001ncb.4_Frame_Shift_Del_p.P606fs|PHF21A_uc009ykx.3_Frame_Shift_Del_p.P606fs|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	652	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CGGCATTGGCAGGGGGGGTGC	0.617												
PSMC3	5702	broad.mit.edu	37	11	47440696	47440696	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:47440695_47440695GC>G	uc001nfh.2	-	10	1375	c.1181_1181GC>C	c.(1180-1182)gccfs	p.A394fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	p.G393E(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGCACTGGGCCCCATTGAA	0.607												
C11orf53	341032	broad.mit.edu	37	11	111154907	111154907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:111154906_111154906TG>T	uc001plc.3	+	2	260	c.113_113TG>T	c.(112-114)gtgfs	p.V38fs		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	38										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ACCTCCAGCGTGGGGAAGCCG	0.567											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DSCAML1	57453	broad.mit.edu	37	11	117389265	117389265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:117389264_117389264TG>T	uc001prh.1	-	6	1609	c.1607_1607CA>A	c.(1606-1608)cagfs	p.Q536fs	DSCAML1_uc001pri.1_Frame_Shift_Del_p.Q340fs	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	476	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCGCGGATCTGGGGGCCTGT	0.602												
STT3A	3703	broad.mit.edu	37	11	125472795	125472797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:125472794_125472796TCTC>T	uc001qcd.2	+	4	478_480	c.368_370TCTC>T	c.(367-372)ttctcc>tTcc	p.S125del	STT3A_uc009zbm.2_In_Frame_Del_p.S125del|STT3A_uc001qce.2_In_Frame_Del_p.S125del|STT3A_uc010sbg.1_In_Frame_Del_p.S33del	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	125					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCCCCTCTCTTCTCCTCCTTCAC	0.483												
ST3GAL4	6484	broad.mit.edu	37	11	126277512	126277512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:126277511_126277511TC>T	uc001qdx.1	+	3	307	c.290_290TC>T	c.(289-291)atcfs	p.I97fs	ST3GAL4_uc001qds.3_Frame_Shift_Del_p.I108fs|ST3GAL4_uc001qdu.3_Frame_Shift_Del_p.I104fs|ST3GAL4_uc021qry.1_Frame_Shift_Del_p.I108fs|ST3GAL4_uc009zce.3_Frame_Shift_Del_p.I104fs|ST3GAL4_uc001qdw.3_Frame_Shift_Del_p.I107fs|ST3GAL4_uc001qdz.3_5'UTR			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	108					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGCTCCTCCATCCCCAAGAAC	0.607												
PRDM10	56980	broad.mit.edu	37	11	129772249	129772250	+	In_Frame_Ins	INS	-	-	TGG			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr11:129772248_129772249T>TTGG	uc001qfm.3	-	21	3674_3675	c.3442_3443A>CCAA	c.(3442-3444)aac>CCAAc	p.N1148P	PRDM10_uc001qfj.3_In_Frame_Ins_p.N1049P|PRDM10_uc001qfk.3_In_Frame_Ins_p.N1011P|PRDM10_uc001qfl.3_In_Frame_Ins_p.N1062P|PRDM10_uc010sbx.2_In_Frame_Ins_p.N1058P|PRDM10_uc001qfn.3_In_Frame_Ins_p.N1144P	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCCGTTCCCGTTGGTGGTGGTG	0.550												
CACNA1C	775	broad.mit.edu	37	12	2714935	2714935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:2714934_2714934CG>C	uc009zdu.1	+	24	3511	c.3198_3198CG>C	c.(3196-3198)atcfs	p.I1066fs	CACNA1C_uc001qkc.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.I1066fs|CACNA1C_uc001qkj.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkk.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkm.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.I1066fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc009zdv.1_Frame_Shift_Del_p.I1043fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.I1046fs|CACNA1C_uc001qka.1_Frame_Shift_Del_p.I581fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.I782fs	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1066					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGCCTGCATCGGGGTCCAGC	0.552												
MLL2	8085	broad.mit.edu	37	12	49438211	49438211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:49438210_49438210GT>G	uc001rta.4	-	19	5059	c.5059_5059AC>C	c.(5059-5061)cgcfs	p.R1687fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1687					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			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTACGCTTGCGTTTTTTGCTT	0.597			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TARBP2	6895	broad.mit.edu	37	12	53898184	53898185	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:53898183_53898184G>GC	uc001sdo.3	+	4	913_914	c.425_426G>GC	c.(424-426)agcfs	p.S142fs	TARBP2_uc001sdp.3_Frame_Shift_Ins_p.S121fs|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Frame_Shift_Ins_p.S121fs	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATGG	0.564												
OR6C4	341418	broad.mit.edu	37	12	55945307	55945307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:55945306_55945306AT>A	uc010spp.2	+	0	296	c.296_296AT>A	c.(295-297)tatfs	p.Y99fs		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTGACTCAGTATTTTTTTGCT	0.403												
DCTN2	10540	broad.mit.edu	37	12	57927827	57927827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:57927826_57927826TC>T	uc021qzn.1	-	8	726	c.594_594GA>A	c.(592-594)ggafs	p.G198fs	DCTN2_uc001som.1_Frame_Shift_Del_p.G193fs|DCTN2_uc009zpv.1_Frame_Shift_Del_p.G106fs|DCTN2_uc009zpw.1_Frame_Shift_Del_p.G106fs	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	193					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CAGTGGTTTTTCCCCCTGATC	0.507												
TMEM119	338773	broad.mit.edu	37	12	108985933	108985933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:108985932_108985932GC>G	uc001tng.3	-	1	391	c.228_228GC>C	c.(226-228)ggcfs	p.G76fs	TMEM119_uc021rdl.1_Frame_Shift_Del_p.G76fs	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	76						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGGGTGATGGGCCCCCCAGGG	0.667												
ACACB	32	broad.mit.edu	37	12	109671600	109671600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:109671599_109671599AC>A	uc001tob.3	+	29	4305	c.4186_4186AC>A	c.(4186-4188)accfs	p.T1396fs	ACACB_uc001toc.3_Frame_Shift_Del_p.T1396fs|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Frame_Shift_Del_p.T62fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1396					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCCAAAGACACCCCCCTCTT	0.607												
LRRC43	254050	broad.mit.edu	37	12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667												
PPP2R3C	55012	broad.mit.edu	37	14	35577434	35577434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr14:35577433_35577433GA>G	uc001wss.3	-	4	768	c.414_414TC>C	c.(412-414)ttcfs	p.F138fs	PPP2R3C_uc001wst.3_Frame_Shift_Del_p.F22fs|PPP2R3C_uc010tpr.2_Frame_Shift_Del_p.F22fs|PPP2R3C_uc001wsu.3_Non-coding_Transcript|PPP2R3C_uc010amn.1_Intron|AK128559_uc001wsv.1_Intron|PPP2R3C_uc001wsw.3_Frame_Shift_Del_p.F138fs|PPP2R3C_uc001wsx.1_Frame_Shift_Del_p.F138fs	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	138						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CTTTTGCTGTGAAAAATTGCC	0.289												
SPRED1	161742	broad.mit.edu	37	15	38614463	38614463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:38614462_38614462TA>T	uc001zka.4	+	2	563	c.228_228TA>T	c.(226-228)cttfs	p.L76fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	76	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AATGTATGCTTAAAAAAGACC	0.338									Legius syndrome			
C15orf52	388115	broad.mit.edu	37	15	40628852	40628853	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:40628851_40628852C>CT	uc001zlh.4	-	8	958_959	c.942_943G>AG	c.(940-945)caagccfs	p.Q314fs	C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.2_Frame_Shift_Ins_p.Q104fs	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	314										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GGTCTGCTGGCTTGCCCGCCCC	0.649												
MAP1A	4130	broad.mit.edu	37	15	43819858	43819858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:43819857_43819857TC>T	uc001zrt.3	+	3	6653	c.6186_6186TC>T	c.(6184-6186)gttfs	p.V2062fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2062						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCTGCAGTTCCCCCCCGTG	0.612												
CSPG4	1464	broad.mit.edu	37	15	75981454	75981454	+	Frame_Shift_Del	DEL	G	G	-	rs77773913	byFrequency	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr15:75981453_75981453CG>C	uc002baw.3	-	2	2046	c.1953_1953CG>G	c.(1951-1953)ccgfs	p.P651fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	651	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCAGCGTGGCCGGGGGGCTGG	0.677												
MGRN1	23295	broad.mit.edu	37	16	4701983	4701983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:4701982_4701982GC>G	uc002cxa.3	+	2	363	c.226_226GC>G	c.(226-228)gccfs	p.A76fs	MGRN1_uc002cwz.3_Frame_Shift_Del_p.A76fs|MGRN1_uc010uxo.2_Frame_Shift_Del_p.A76fs|MGRN1_uc010uxp.2_Frame_Shift_Del_p.A76fs|MGRN1_uc010btw.3_Frame_Shift_Del_p.A76fs|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	76					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGTCACTCCTGCCCCCCACGA	0.617												
RRN3	54700	broad.mit.edu	37	16	15165070	15165070	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:15165069_15165069AT>A	uc002dde.3	-	12	1236	c.1168_1168AT>T	c.(1168-1170)ttgfs	p.L390fs	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Frame_Shift_Del_p.L258fs|RRN3_uc010uzq.2_Frame_Shift_Del_p.L360fs	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	390					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GGGTCCTGCAATTTTTTCCAG	0.403												
PSMD7	5713	broad.mit.edu	37	16	74334988	74334988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:74334987_74334987GT>G	uc002fcq.3	+	2	344	c.204_204GT>G	c.(202-204)tggfs	p.W68fs	PSMD7_uc010vmr.2_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (PSMD7), mRNA.	68	MPN.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATTCTGTATGGTTTTTAGACC	0.333												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGC	0.607												
DNAH9	1770	broad.mit.edu	37	17	11511606	11511607	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:11511605_11511606G>GA	uc002gne.3	+	1	645_646	c.577_578G>GA	c.(577-579)gaafs	p.E193fs	DNAH9_uc002gnd.1_Frame_Shift_Ins_p.E193fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	193	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAGGCTCAGAAAAAATGGAG	0.500												
SSH2	85464	broad.mit.edu	37	17	27959375	27959376	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:27959374_27959375T>TG	uc002heo.1	-	14	2756_2757	c.2756_2757A>CA	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480												
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632												
SLC4A1	6521	broad.mit.edu	37	17	42337271	42337272	+	Frame_Shift_Ins	INS	-	-	C	rs139653615		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:42337270_42337271A>AC	uc002igf.4	-	6	664_665	c.515_516T>GT	c.(514-516)ggtfs	p.G172fs	SLC4A1_uc021tyc.1_Frame_Shift_Ins_p.G172fs	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	172					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G172V(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGCTTCACACCCCCCAGGGC	0.604												
VEZF1	7716	broad.mit.edu	37	17	56056587	56056588	+	In_Frame_Ins	INS	-	-	TGT			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:56056586_56056587A>ATGT	uc002ivf.1	-	4	1207_1208	c.1064_1065T>ACAT	c.(1063-1065)cat>cACAT	p.H355H	VEZF1_uc010dcn.1_In_Frame_Ins_p.H205H	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	355					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
SOX9	6662	broad.mit.edu	37	17	70119910	70119910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr17:70119909_70119909CG>C	uc002jiw.3	+	2	1283	c.911_911CG>C	c.(910-912)ccgfs	p.P304fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	304					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACGGCCACCCGGGGGTGCCG	0.682												
ESCO1	114799	broad.mit.edu	37	18	19154750	19154750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:19154749_19154749CT>C	uc002kth.1	-	3	990	c.56_56AG>G	c.(55-57)agtfs	p.S19fs	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	19					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTATCGTCACTTTTTTTAGT	0.333												
TCF4	6925	broad.mit.edu	37	18	52895520	52895520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr18:52895519_52895519AG>A	uc002lga.3	-	19	2319	c.2259_2259CT>T	c.(2257-2259)cctfs	p.P753fs	TCF4_uc021ukg.1_Frame_Shift_Del_p.P487fs|TCF4_uc021ukh.1_Frame_Shift_Del_p.P487fs|TCF4_uc002lfw.4_Frame_Shift_Del_p.P491fs|TCF4_uc010xdu.1_Frame_Shift_Del_p.P517fs|TCF4_uc010xdv.1_Frame_Shift_Del_p.P517fs|TCF4_uc021uki.1_Frame_Shift_Del_p.P576fs|TCF4_uc002lfx.2_Frame_Shift_Del_p.P580fs|TCF4_uc010xdw.1_Frame_Shift_Del_p.P517fs|TCF4_uc002lfy.2_Frame_Shift_Del_p.P605fs|TCF4_uc010xdx.1_Frame_Shift_Del_p.P623fs|TCF4_uc021ukj.1_Frame_Shift_Del_p.P587fs|TCF4_uc021ukk.1_Frame_Shift_Del_p.P591fs|TCF4_uc021ukl.1_Frame_Shift_Del_p.P644fs|TCF4_uc002lfz.2_Frame_Shift_Del_p.P647fs|TCF4_uc010dph.1_Frame_Shift_Del_p.P651fs|TCF4_uc010dpi.3_Frame_Shift_Del_p.P657fs|TCF4_uc010xdy.1_Frame_Shift_Del_p.P627fs	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	647					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCAAGGAGAGAGGGGGAGGCT	0.502												
STK11	6794	broad.mit.edu	37	19	1207077	1207077	+	Frame_Shift_Del	DEL	G	G	-	rs121913319		TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:1207076_1207076TG>T	uc002lrl.1	+	0	1279	c.164_164TG>T	c.(163-165)ctgfs	p.L55fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	55	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.G52_P179del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGACCTGCTGGGGGAAGGC	0.602		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)		
RFX2	5990	broad.mit.edu	37	19	6004312	6004312	+	Splice_Site	DEL	G	G	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:6004311_6004311TG>T	uc002meb.3	-	13	1672	c.1403_splice	c.e13-1	p.S468_splice	RFX2_uc002mec.3_Splice_Site_p.S443_splice	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCAAGGTACCTGGGGGATACA	0.507												
ALKBH7	84266	broad.mit.edu	37	19	6374970	6374970	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:6374969_6374969GC>G	uc002meo.2	+	3	1039	c.651_651GC>G	c.(649-651)ccgfs	p.P217fs		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA.	217						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTGGACAGCCGCCCCCAGCCT	0.617												
OR10H1	26539	broad.mit.edu	37	19	15917904	15917904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:15917903_15917903AT>A	uc002nbq.2	-	0	1034	c.945_945AT>T	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438												
LRFN3	79414	broad.mit.edu	37	19	36431600	36431600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:36431599_36431599GC>G	uc002oco.3	+	1	1724	c.1272_1272GC>G	c.(1270-1272)gggfs	p.G424fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	424					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGACACTGGGCCCCCTACCG	0.677												
FCGBP	8857	broad.mit.edu	37	19	40357606	40357607	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:40357605_40357606GAC>G	uc002omp.4	-	33	15715_15716	c.15707_15708GTC>C	c.(15706-15708)gtcfs	p.V5236fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5236	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACAGACAGGACACAGAGACC	0.629												
RPS11	6205	broad.mit.edu	37	19	50000524	50000526	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:50000523_50000525AAGG>A	uc002pob.1	+	1	168_170	c.88_90AAGG>A	c.(88-90)aag>A	p.K30del	SNORD35B_uc002poc.3_5'Flank	NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGAAACTGGCAAGGAGAAGCTCC	0.522												
POLD1	5424	broad.mit.edu	37	19	50905061	50905061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:50905060_50905060GC>G	uc010eny.3	+	2	343	c.342_342GC>G	c.(340-342)gggfs	p.G114fs	POLD1_uc002psb.4_Frame_Shift_Del_p.G114fs|POLD1_uc002psc.4_Frame_Shift_Del_p.G114fs|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	114					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCTGGGGGGCCCCCACCAT	0.662								DNA polymerases (catalytic subunits)				
CACNG6	59285	broad.mit.edu	37	19	54515282	54515282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr19:54515281_54515281TC>T	uc002qct.3	+	3	1211	c.621_621TC>T	c.(619-621)cctfs	p.P207fs	CACNG6_uc002qcu.3_Frame_Shift_Del_p.P161fs|CACNG6_uc002qcv.3_Frame_Shift_Del_p.P136fs	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	207						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCCCGGAGCCTCCCCCGGCCC	0.697												
NCOA5	57727	broad.mit.edu	37	20	44695696	44695699	+	Splice_Site	DEL	TGTC	TGTC	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr20:44695695_44695698TTGTC>T	uc002xrd.3	-	4	1157	c.629_splice	c.e4+1	p.K210_splice	NCOA5_uc002xrc.3_Splice_Site_p.K98_splice|NCOA5_uc002xre.3_Splice_Site_p.K210_splice	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGTTCTTACTTTGTCTGTTTGTTG	0.431												
CECR2	27443	broad.mit.edu	37	22	18022047	18022047	+	Frame_Shift_Del	DEL	G	G	-	rs41277560	by1000genomes	TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:18022046_18022046TG>T	uc010gqw.1	+	14	2142	c.2142_2142TG>T	c.(2140-2142)catfs	p.H714fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.H575fs|CECR2_uc002zml.2_Frame_Shift_Del_p.H575fs	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	758					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCCCCGGCATGGGGGGGCTC	0.547												
ANKRD54	129138	broad.mit.edu	37	22	38228002	38228004	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:38228001_38228003CAGG>C	uc003auc.3	-	7	958_960	c.850_852CCTG>G	c.(850-852)ctg>G	p.L284del	ANKRD54_uc003aud.3_In_Frame_Del_p.L161del	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	284										lung(1)	1	Melanoma(58;0.045)					TGAAGCTGGCCAGGAGGTCAGTC	0.616												
DDX17	10521	broad.mit.edu	37	22	38897211	38897212	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chr22:38897210_38897211C>CTT	uc003avy.4	-	1	465_466	c.362_363G>AAG	c.(361-363)aagfs	p.K121fs	DDX17_uc003avx.4_Frame_Shift_Ins_p.K121fs|DDX17_uc011anu.2_Frame_Shift_Ins_p.K34fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	42					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAATCCCACTTTTTTTTACG	0.421												
PPP2R3B	28227	broad.mit.edu	37	X	302052	302052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGTCGGTGTTTTTTTGTC	0.562												
CTPS2	56474	broad.mit.edu	37	X	16720875	16720875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:16720874_16720874GA>G	uc004cxk.3	-	1	896	c.152_152TC>C	c.(151-153)tcafs	p.S51fs	CTPS2_uc004cxl.3_Frame_Shift_Del_p.S51fs|CTPS2_uc004cxm.3_Frame_Shift_Del_p.S51fs	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	51					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTCATAAGGTGAAAAAGTGCC	0.413												
SCML2	10389	broad.mit.edu	37	X	18265925	18265926	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:18265924_18265925GGA>G	uc004cyl.2	-	11	1691_1692	c.1534_1535TCC>C	c.(1534-1536)cctfs	p.P512fs	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Frame_Shift_Del_p.P512fs|SCML2_uc011miz.1_Frame_Shift_Del_p.P446fs|SCML2_uc010nfc.2_Frame_Shift_Del_p.P248fs	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	512					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGGGAGCTTAGGAGAGAGAGGA	0.406												
BCOR	54880	broad.mit.edu	37	X	39916480	39916480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:39916479_39916479GC>G	uc004den.4	-	10	4816	c.4524_4524GC>C	c.(4522-4524)ggcfs	p.G1508fs	BCOR_uc004dep.4_Frame_Shift_Del_p.G1474fs|BCOR_uc004deo.4_Frame_Shift_Del_p.G1456fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.G216fs|BCOR_uc004dem.4_Frame_Shift_Del_p.G1474fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1508					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTGAGCCAGCCCCTAGCAC	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
PIM2	11040	broad.mit.edu	37	X	48776073	48776074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:48776072_48776073C>CG	uc004dls.3	-	0	341_342	c.39_40G>CG	c.(37-42)cccgggfs	p.P13fs		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	13					anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity	p.G14W(1)		lung(3)|stomach(1)	4						GTGGGGGTCCCGGGGGGCGCGG	0.698												
SEPT6	23157	broad.mit.edu	37	X	118767398	118767398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:118767397_118767397CT>C	uc004erv.3	-	7	1280	c.1015_1015AG>G	c.(1015-1017)gaafs	p.E339fs	SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Frame_Shift_Del_p.E339fs|SEPT6_uc004ert.3_Frame_Shift_Del_p.E339fs|SEPT6_uc004eru.3_Frame_Shift_Del_p.E339fs|SEPT6_uc004erw.3_Frame_Shift_Del_p.E281fs|SEPT6_uc011mtv.1_Frame_Shift_Del_p.E281fs|SEPT6_uc011mtw.1_Frame_Shift_Del_p.E369fs	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	339					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ATCTCCTCTTCTTTTTTCTGG	0.438			T	MLL	AML							
XPNPEP2	7512	broad.mit.edu	37	X	128890518	128890519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4363-01A-01D-1158-08	TCGA-BR-4363-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31fcaf7-ccd9-4320-a1ae-e59c4450386c	8814f33d-2e46-4c3f-9a03-0c1c2d9ec106	g.chrX:128890517_128890518T>TG	uc004eut.1	+	13	1597_1598	c.1353_1354T>TG	c.(1351-1356)tctgggfs	p.S451fs		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	451					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579