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
NBPF1	55672	broad.mit.edu	37	1	16907975	16907975	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:16907975T>C	uc009vos.1	-	15	2207	c.1319A>G	c.(1318-1320)GAT>GGT	p.D440G	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.D169G	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	440	NBPF 2.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCATCCTCATCTTCGTCATT	0.433000												
PTAFR	5724	broad.mit.edu	37	1	28477276	28477276	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:28477276G>T	uc001bpl.2	-	2	384	c.257C>A	c.(256-258)CCC>CAC	p.P86H	PTAFR_uc001bpm.3_Missense_Mutation_p.P86H|PTAFR_uc009vte.2_Missense_Mutation_p.P86H	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	86	Extracellular (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAATTTGGGGAGTATCCA	0.507000												
RORC	6097	broad.mit.edu	37	1	151785769	151785769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:151785769G>A	uc001ezh.2	-	8	1228	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C	RORC_uc001ezg.2_Missense_Mutation_p.R353C|RORC_uc010pdo.1_Missense_Mutation_p.R428C|RORC_uc010pdp.1_Missense_Mutation_p.R374C	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	374	Ligand-binding.				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)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGACCGTGCGGTTGTCAGCA	0.557000												
GBA	2629	broad.mit.edu	37	1	155209829	155209829	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:155209829G>A	uc001fjh.2	-	3	305	c.155C>T	c.(154-156)TCG>TTG	p.S52L	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Missense_Mutation_p.S52L|GBA_uc001fji.2_Missense_Mutation_p.S52L|GBA_uc001fjj.2_Missense_Mutation_p.S52L|GBA_uc001fjk.2_Missense_Mutation_p.S52L|GBA_uc001fjl.2_Missense_Mutation_p.S52L|GBA_uc010pfy.1_5'UTR|GBA_uc009wqk.1_Intron	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	52					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	ACACACCACCGAGCTGTAGCC	0.567000									Gaucher_disease_type_I			
PAPPA2	60676	broad.mit.edu	37	1	176525566	176525566	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:176525566G>C	uc001gkz.2	+	2	1272	c.108G>C	c.(106-108)GAG>GAC	p.E36D	PAPPA2_uc001gky.1_Missense_Mutation_p.E36D|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	36					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCTTGGTTGAGAGGGAACACC	0.532000												
HMCN1	83872	broad.mit.edu	37	1	186099205	186099205	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:186099205A>T	uc001grq.1	+	84	13241	c.13012A>T	c.(13012-13014)AAG>TAG	p.K4338*	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4338	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGGCTTTGTGAAGGCAATTGG	0.363000												
TROVE2	6738	broad.mit.edu	37	1	193038590	193038590	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:193038590A>C	uc001gss.2	+	2	581	c.406A>C	c.(406-408)AAG>CAG	p.K136Q	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.K136Q|TROVE2_uc001gsw.2_Missense_Mutation_p.K136Q|TROVE2_uc009wyp.2_Missense_Mutation_p.K136Q|TROVE2_uc009wyq.2_Missense_Mutation_p.K136Q|TROVE2_uc001gsx.1_Missense_Mutation_p.K136Q	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	136	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						GAAAGATCTGAAGGAAAGCAT	0.463000												
RABIF	5877	broad.mit.edu	37	1	202850310	202850310	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:202850310G>A	uc001gyl.2	-	2	205	c.168C>T	c.(166-168)GAC>GAT	p.D56D		NM_002871	NP_002862	P47224	MSS4_HUMAN	RAB-interacting factor	56					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GATTGCTGCCGTCAGACAGAG	0.507000												
KCTD3	51133	broad.mit.edu	37	1	215793440	215793440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:215793440C>T	uc001hks.2	+	18	2222	c.1928C>T	c.(1927-1929)ACT>ATT	p.T643I	KCTD3_uc001hkt.2_Missense_Mutation_p.T641I|KCTD3_uc010pub.1_Missense_Mutation_p.T541I|KCTD3_uc009xdn.2_Missense_Mutation_p.T367I	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	643						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GAAGCAGCTACTTACGGTTCC	0.413000												
RAB3GAP2	25782	broad.mit.edu	37	1	220335565	220335565	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:220335565G>C	uc010puk.1	-	28	3364	c.3200C>G	c.(3199-3201)TCT>TGT	p.S1067C	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S647C|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.S11C	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1067					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TGTAGCAGCAGAAAATCTTTT	0.289000												
TRIM17	51127	broad.mit.edu	37	1	228598776	228598776	+	Silent	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:228598776C>T	uc001hsu.2	-	4	1012	c.627G>A	c.(625-627)ACG>ACA	p.T209T	TRIM17_uc001hsv.2_Silent_p.T209T|TRIM17_uc001hsw.2_Silent_p.T182T|TRIM17_uc009xfb.2_Silent_p.T209T	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	209	Potential.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CCTCTTCTTCCGTCTCCAGAG	0.612000												
ZMYND11	10771	broad.mit.edu	37	10	267156	267156	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:267156G>C	uc010pzt.1	+	4	726	c.298G>C	c.(298-300)GAC>CAC	p.D100H	ZMYND11_uc001ifk.2_Missense_Mutation_p.D100H|ZMYND11_uc010pzu.1_Missense_Mutation_p.D100H|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron|ZMYND11_uc010pzx.1_Missense_Mutation_p.D100H|ZMYND11_uc001ifn.2_Intron|ZMYND11_uc009xhg.2_Missense_Mutation_p.D83H|ZMYND11_uc009xhh.2_Intron|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	60	PHD-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)		AGAAAATCATGACTGGTATTG	0.353000												
SFTPA2	729238	broad.mit.edu	37	10	81317845	81317845	+	Silent	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:81317845G>C	uc001kal.3	-	5	430	c.333C>G	c.(331-333)CTC>CTG	p.L111L	SFTPA2_uc001kan.3_Silent_p.L111L	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	111					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGAAGTCGTGGAGTGTGGCTT	0.582000									Pulmonary_Fibrosis_Idiopathic			
PPRC1	23082	broad.mit.edu	37	10	103904794	103904794	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:103904794A>G	uc001kum.2	+	8	3665	c.3626A>G	c.(3625-3627)CAG>CGG	p.Q1209R	PPRC1_uc001kun.2_Missense_Mutation_p.Q1089R|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACATTCCCCAGGAGAAGAGG	0.498000												
HSPA12A	259217	broad.mit.edu	37	10	118443393	118443393	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:118443393C>G	uc001lct.2	-	7	849	c.744G>C	c.(742-744)AAG>AAC	p.K248N	HSPA12A_uc001lcu.2_Missense_Mutation_p.K165N	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	248							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GTAGCCGCAGCTTTCGGCAGT	0.582000												
MMP21	118856	broad.mit.edu	37	10	127461231	127461231	+	Silent	SNP	G	G	A	rs146537734		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr10:127461231G>A	uc001liu.2	-	3	786	c.786C>T	c.(784-786)GAC>GAT	p.D262D		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	262					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGTGCTCGTCGTCGTCAAAGT	0.622000												
CNGA4	1262	broad.mit.edu	37	11	6265493	6265493	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:6265493C>T	uc001mco.2	+	6	1689	c.1582C>T	c.(1582-1584)CGC>TGC	p.R528C	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	528	Cytoplasmic (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)		GATTGCTTACCGCATTGAACG	0.587000												
OVCH2	341277	broad.mit.edu	37	11	7722879	7722879	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:7722879C>T	uc010rbf.1	-	6	703	c.703G>A	c.(703-705)GCA>ACA	p.A235T		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACCTGACATGCGTCTCTCCCT	0.483000												
CHRM4	1132	broad.mit.edu	37	11	46407613	46407613	+	Silent	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:46407613C>T	uc001nct.1	-	1	495	c.495G>A	c.(493-495)GCG>GCA	p.A165A		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	165	Helical; Name=4; (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGATGGCAGGCGCCCAGAGCA	0.602000												
MADD	8567	broad.mit.edu	37	11	47296606	47296606	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:47296606C>G	uc001ner.1	+	3	746	c.555C>G	c.(553-555)TTC>TTG	p.F185L	MADD_uc001neq.2_Missense_Mutation_p.F185L|MADD_uc001nev.1_Missense_Mutation_p.F185L|MADD_uc001nes.1_Missense_Mutation_p.F185L|MADD_uc001net.1_Missense_Mutation_p.F185L|MADD_uc009yln.1_Missense_Mutation_p.F185L|MADD_uc001neu.1_Missense_Mutation_p.F185L|MADD_uc001nex.2_Missense_Mutation_p.F185L|MADD_uc001nez.2_Missense_Mutation_p.F185L|MADD_uc001new.2_Missense_Mutation_p.F185L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	185	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		ACTACCCTTTCTTCTCCACCT	0.602000												
OR5T1	390155	broad.mit.edu	37	11	56043183	56043183	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:56043183G>A	uc001nio.1	+	1	69	c.69G>A	c.(67-69)ATG>ATA	p.M23I		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					AAGTCACCATGTTTATATTAA	0.303000												
SNX32	254122	broad.mit.edu	37	11	65620233	65620233	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:65620233G>C	uc001ofr.2	+	11	1172	c.1045G>C	c.(1045-1047)GAG>CAG	p.E349Q		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	349					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		CCAACGCTTCGAGCGCCTCTC	0.701000												
RAB1B	81876	broad.mit.edu	37	11	66039636	66039636	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:66039636G>A	uc001ohf.2	+	3	191	c.96G>A	c.(94-96)ACG>ACA	p.T32T	uc001ohg.1_RNA	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	32					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding				0						AGGATGACACGTACACAGAGA	0.532000												
RBM14	10432	broad.mit.edu	37	11	66384208	66384208	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:66384208G>A	uc001oit.2	+	1	156	c.17G>A	c.(16-18)GGC>GAC	p.G6D	RBM14_uc009yrh.2_Missense_Mutation_p.G6D|RBM14_uc009yri.2_Missense_Mutation_p.G6D|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.G6D	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	6	RRM 1.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ATATTCGTGGGCAACGTCGAC	0.627000												
PDE2A	5138	broad.mit.edu	37	11	72299876	72299876	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:72299876T>A	uc010rrc.1	-	13	1265	c.1022A>T	c.(1021-1023)GAC>GTC	p.D341V	PDE2A_uc001oso.2_Missense_Mutation_p.D320V|PDE2A_uc010rra.1_Missense_Mutation_p.D334V|PDE2A_uc001osn.2_Intron|PDE2A_uc010rrb.1_Missense_Mutation_p.D332V|PDE2A_uc010rrd.1_Missense_Mutation_p.D226V	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	341	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CACCACCTGGTCAGTGGCCCG	0.572000												
P2RY2	5029	broad.mit.edu	37	11	72945522	72945522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:72945522C>A	uc001otj.2	+	3	651	c.318C>A	c.(316-318)TGC>TGA	p.C106*	P2RY2_uc001otk.2_Nonsense_Mutation_p.C106*|P2RY2_uc001otl.2_Nonsense_Mutation_p.C106*	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	106	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CGGTGCTCTGCAAGCTGGTGC	0.607000												
ARHGEF17	9828	broad.mit.edu	37	11	73021583	73021583	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr11:73021583G>T	uc001otu.2	+	1	1921	c.1900G>T	c.(1900-1902)GAG>TAG	p.E634*		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	634					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GCGGTCCCAGGAGGAGCTCTC	0.622000												
C3AR1	719	broad.mit.edu	37	12	8211383	8211383	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:8211383G>T	uc001qtv.1	-	2	1491	c.1399C>A	c.(1399-1401)CAC>AAC	p.H467N		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	467	Cytoplasmic (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		GAGGGACAGTGGGTGGAACGT	0.468000												
GRIN2B	2904	broad.mit.edu	37	12	13716833	13716833	+	Silent	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:13716833C>T	uc001rbt.2	-	13	3518	c.3339G>A	c.(3337-3339)CCG>CCA	p.P1113P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1113	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAGCGGGGCGGTCGGCGAC	0.612000												
BICD1	636	broad.mit.edu	37	12	32491848	32491848	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:32491848C>G	uc001rku.2	+	8	2780	c.2699C>G	c.(2698-2700)TCC>TGC	p.S900C	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	900					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCCCCCCTTCCATGAGTGAA	0.498000												
COL2A1	1280	broad.mit.edu	37	12	48368564	48368564	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:48368564C>A	uc001rqu.2	-	52	4149	c.3968G>T	c.(3967-3969)TGC>TTC	p.C1323F	COL2A1_uc001rqt.2_Missense_Mutation_p.C104F|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.C1254F	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1323	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGTAGACGCAAGTCTCGCC	0.532000												
DNAJC22	79962	broad.mit.edu	37	12	49743369	49743369	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:49743369G>A	uc001rua.2	+	2	1115	c.714G>A	c.(712-714)CTG>CTA	p.L238L	DNAJC22_uc001rub.2_Silent_p.L238L	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	238	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						TCCTCCTTCTGCCTTACCGGA	0.532000												
TMEM5	10329	broad.mit.edu	37	12	64202853	64202853	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:64202853T>G	uc001srq.1	+	6	1417	c.1313T>G	c.(1312-1314)TTA>TGA	p.L438*	TMEM5_uc001srr.1_Nonsense_Mutation_p.L335*|TMEM5_uc001srs.1_Nonsense_Mutation_p.L178*	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	438	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGCTCATTTTTAATGAATAAT	0.254000												
ATP2B1	490	broad.mit.edu	37	12	89996883	89996883	+	Silent	SNP	T	T	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:89996883T>A	uc001tbh.2	-	17	3178	c.2997A>T	c.(2995-2997)GTA>GTT	p.V999V	ATP2B1_uc001tbg.2_Silent_p.V999V|ATP2B1_uc001tbf.2_Silent_p.V669V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	999	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTCCTTCGAATACATTTCTTT	0.353000												
BTBD11	121551	broad.mit.edu	37	12	108029147	108029147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:108029147G>A	uc001tmk.1	+	12	3238	c.2717G>A	c.(2716-2718)CGG>CAG	p.R906Q	BTBD11_uc009zut.1_Missense_Mutation_p.R787Q|BTBD11_uc001tmj.2_Missense_Mutation_p.R906Q|BTBD11_uc001tml.1_Missense_Mutation_p.R443Q|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	906						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GAAATCAAACGGAAACAGACC	0.527000												
MLEC	9761	broad.mit.edu	37	12	121125252	121125252	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:121125252G>A	uc001tyy.1	+	1	304	c.153G>A	c.(151-153)GCG>GCA	p.A51A		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	51	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						TCATTTGGGCGGTCAACGCGG	0.527000												
TPTE2	93492	broad.mit.edu	37	13	19999107	19999107	+	Silent	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr13:19999107C>G	uc001umd.2	-	20	1657	c.1446G>C	c.(1444-1446)ACG>ACC	p.T482T	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.T371T|TPTE2_uc001ume.2_Silent_p.T405T|TPTE2_uc009zzm.2_Silent_p.T153T|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Silent_p.T153T	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	482	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAATAAAAGACGTGTTGAACC	0.299000												
USP12	219333	broad.mit.edu	37	13	27645260	27645260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr13:27645260G>A	uc001uqy.2	-	8	1212	c.959C>T	c.(958-960)GCA>GTA	p.A320V		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	320					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTTAACTATTGCAATATAATG	0.274000												
LCP1	3936	broad.mit.edu	37	13	46725141	46725141	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr13:46725141A>T	uc001vaz.3	-	8	938	c.812T>A	c.(811-813)CTG>CAG	p.L271Q	LCP1_uc001vba.3_Missense_Mutation_p.L271Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	271	CH 2.|Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGCCCACCTCAGCAAGAGCTC	0.453000			T	BCL6	NHL 							
PTGDR	5729	broad.mit.edu	37	14	52735280	52735280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr14:52735280G>A	uc001wzq.2	+	1	850	c.748G>A	c.(748-750)GGG>AGG	p.G250R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	250	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCGCGCGGACGGGAGGGAAGC	0.667000												
SLC24A4	123041	broad.mit.edu	37	14	92949082	92949082	+	Silent	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr14:92949082C>T	uc001yak.2	+	13	1287	c.1263C>T	c.(1261-1263)TGC>TGT	p.C421C	SLC24A4_uc001yai.2_Silent_p.C374C|SLC24A4_uc010twm.1_Silent_p.C419C|SLC24A4_uc001yaj.2_Silent_p.C402C|SLC24A4_uc010auj.2_Silent_p.C310C|SLC24A4_uc010twn.1_Silent_p.C194C|SLC24A4_uc001yan.2_Silent_p.C132C	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	438	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCCTCCTGTGCGTCACCATTC	0.582000												
C14orf68	283600	broad.mit.edu	37	14	100793683	100793683	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr14:100793683G>A	uc001yhc.2	+	4	376	c.303G>A	c.(301-303)TCG>TCA	p.S101S	C14orf68_uc001yhd.2_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	101	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				TCACGCTCTCGGGATGCGCCT	0.667000												
ADAMTS7	11173	broad.mit.edu	37	15	79080681	79080681	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr15:79080681C>G	uc002bej.3	-	8	1425	c.1214G>C	c.(1213-1215)TGT>TCT	p.C405S	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.C405S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	405	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AACGGGCTCACAGTCATTGCC	0.637000												
ADAMTS7	11173	broad.mit.edu	37	15	79083543	79083543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr15:79083543G>A	uc002bej.3	-	5	1053	c.842C>T	c.(841-843)CCC>CTC	p.P281L	ADAMTS7_uc010und.1_Missense_Mutation_p.P281L|ADAMTS7_uc002bek.1_Missense_Mutation_p.P281L	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	281	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCCAATGCTGGGGTCATGAAA	0.602000												
IDH2	3418	broad.mit.edu	37	15	90628287	90628287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr15:90628287C>T	uc002box.2	-	9	1210	c.1124G>A	c.(1123-1125)TGG>TAG	p.W375*	IDH2_uc010uqb.1_Nonsense_Mutation_p.W323*|IDH2_uc010uqc.1_Nonsense_Mutation_p.W245*|IDH2_uc010bnu.2_Nonsense_Mutation_p.W266*	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	375					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3)	711	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GCCACGTGTCCAGGCAAAGAT	0.667000			M		GBM							
C16orf42	115939	broad.mit.edu	37	16	1400843	1400843	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:1400843C>G	uc002cll.2	-	3	559	c.491G>C	c.(490-492)TGC>TCC	p.C164S	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	164					rRNA processing						0		Hepatocellular(780;0.0893)				CGCTTCCACGCAGGAAAGTCT	0.627000												
RUNDC2A	84127	broad.mit.edu	37	16	12142284	12142284	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:12142284G>C	uc002dbw.1	+	7	617	c.555G>C	c.(553-555)CAG>CAC	p.Q185H		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	185										ovary(1)	1						TGAACGGGCAGAGTAAGTTTG	0.498000			T	CIITA	PMBL|Hodgkin Lymphona|							
KIF22	3835	broad.mit.edu	37	16	29810320	29810320	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:29810320T>A	uc002dts.3	+	5	598	c.574T>A	c.(574-576)TCG>ACG	p.S192T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.S124T|KIF22_uc010vdw.1_Missense_Mutation_p.S124T|KIF22_uc010bzf.2_Missense_Mutation_p.S124T	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	192	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						GGACCCTGCTTCGGGAGACCT	0.522000												
HSD3B7	80270	broad.mit.edu	37	16	30997777	30997777	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:30997777C>A	uc002eaf.2	+	4	462	c.356C>A	c.(355-357)ACC>AAC	p.T119N	HSD3B7_uc010cac.2_Missense_Mutation_p.T119N|HSD3B7_uc002eag.2_Missense_Mutation_p.T119N|HSD3B7_uc002eah.2_Missense_Mutation_p.T119N	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	119					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						TGTGTGCAGACCGGAACACGG	0.587000												
IRX3	79191	broad.mit.edu	37	16	54318990	54318990	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:54318990A>G	uc002eht.1	-	2	1219	c.803T>C	c.(802-804)CTG>CCG	p.L268P		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	268					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCCAGGGACAGCTCAGGCTC	0.438000												
KATNB1	10300	broad.mit.edu	37	16	57787375	57787375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:57787375C>T	uc002eml.1	+	12	1495	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	374	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GAGTCCCGCGCGGAGATCCAG	0.672000												
CDH8	1006	broad.mit.edu	37	16	61687703	61687703	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:61687703T>A	uc002eog.1	-	12	2461	c.2209A>T	c.(2209-2211)ACG>TCG	p.T737S		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	737	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGCGGGGCCGTGGGATCATTA	0.498000												
CDH11	1009	broad.mit.edu	37	16	65022100	65022100	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr16:65022100G>A	uc002eoi.2	-	7	1393	c.959C>T	c.(958-960)ACG>ATG	p.T320M	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.T320M|CDH11_uc010vin.1_Missense_Mutation_p.T194M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	320	Cadherin 3.|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)		TTCATAGTCCGTTGTGATTTC	0.438000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
ITGAE	3682	broad.mit.edu	37	17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:3664729C>T	uc002fwo.3	-	5	500	c.401G>A	c.(400-402)CGT>CAT	p.R134H		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	134	FG-GAP 2.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557000												
MYBBP1A	10514	broad.mit.edu	37	17	4455258	4455258	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:4455258G>C	uc002fyb.3	-	8	1002	c.940C>G	c.(940-942)CCC>GCC	p.P314A	MYBBP1A_uc002fxz.3_Missense_Mutation_p.P314A	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	314	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GTCAGCAGGGGCAGGGCCGCG	0.637000												
SLC13A5	284111	broad.mit.edu	37	17	6610071	6610071	+	Silent	SNP	G	G	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:6610071G>T	uc002gdj.2	-	3	346	c.258C>A	c.(256-258)ACC>ACA	p.T86T	SLC13A5_uc010vtf.1_Silent_p.T86T|SLC13A5_uc010clq.2_Silent_p.T43T|SLC13A5_uc002gdk.2_Silent_p.T86T|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	86	Helical; (Potential).					integral to membrane	citrate transmembrane transporter activity				0						ACAGCATGTTGGTGTCCTTCA	0.632000												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> 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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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)		
ELAC2	60528	broad.mit.edu	37	17	12921103	12921103	+	Silent	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:12921103G>C	uc002gnz.3	-	1	257	c.162C>G	c.(160-162)GGC>GGG	p.G54G	ELAC2_uc010vvp.1_Silent_p.G54G|ELAC2_uc010vvq.1_Silent_p.G54G|ELAC2_uc010vvr.1_Silent_p.G54G	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	54					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						CGGTGTTTGGGCCGCCGGAGC	0.716000									Hereditary_Prostate_Cancer			
PHF12	57649	broad.mit.edu	37	17	27237335	27237335	+	Silent	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:27237335C>T	uc002hdg.1	-	11	2798	c.2268G>A	c.(2266-2268)CAG>CAA	p.Q756Q	PHF12_uc010wbb.1_Silent_p.Q738Q|PHF12_uc002hdi.1_Silent_p.Q752Q|PHF12_uc002hdh.1_Silent_p.Q539Q	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	756					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GATGTATTCTCTGCAAGGCCA	0.498000												
HNF1B	6928	broad.mit.edu	37	17	36093716	36093716	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:36093716C>G	uc002hok.3	-	3	864	c.643G>C	c.(643-645)GGG>CGG	p.G215R	HNF1B_uc010wdi.1_Missense_Mutation_p.G189R|HNF1B_uc010cve.1_Missense_Mutation_p.G23R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	215					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCCCAGGCCCATGGCTCTGT	0.527000									Hereditary_Prostate_Cancer			
KRT25	147183	broad.mit.edu	37	17	38910169	38910169	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:38910169C>A	uc002hve.2	-	3	673	c.612G>T	c.(610-612)GAG>GAT	p.E204D		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	204	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CATACTGAATCTCCAGATCTG	0.448000												
ZNF440	126070	broad.mit.edu	37	19	11942980	11942980	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:11942980A>G	uc002msp.1	+	4	1145	c.989A>G	c.(988-990)CAC>CGC	p.H330R		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	330	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTCAAACACACGTAAGATTG	0.353000												
ZNF490	57474	broad.mit.edu	37	19	12692195	12692195	+	Missense_Mutation	SNP	C	C	T	rs143244240	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:12692195C>T	uc002mtz.2	-	5	823	c.694G>A	c.(694-696)GCA>ACA	p.A232T		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	232	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGAGAAATGCGAAGGCTTTG	0.423000												
PGLS	25796	broad.mit.edu	37	19	17631842	17631842	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:17631842G>A	uc002ngw.2	+	5	779	c.729G>A	c.(727-729)GCG>GCA	p.A243A	FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	243						cytosol	6-phosphogluconolactonase activity				0						TGGACGAGGCGGCCGCCCGCC	0.667000												
TSSK6	83983	broad.mit.edu	37	19	19626080	19626080	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:19626080C>T	uc002nmr.2	-	1	390	c.157G>A	c.(157-159)GTC>ATC	p.V53I	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	53	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						AACTTGTTGACGAAGTCCGGG	0.617000												
PSENEN	55851	broad.mit.edu	37	19	36237375	36237375	+	Silent	SNP	A	A	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:36237375A>T	uc002obi.1	+	3	321	c.117A>T	c.(115-117)CGA>CGT	p.R39R	TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Silent_p.R39R|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	presenilin enhancer 2	39	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			ovary(2)	2	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTTCTTCCGAGAGGCCTTCC	0.512000												
WDR62	284403	broad.mit.edu	37	19	36582142	36582142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:36582142G>A	uc002odc.2	+	17	2166	c.2075G>A	c.(2074-2076)TGC>TAC	p.C692Y	WDR62_uc002odd.2_Missense_Mutation_p.C692Y	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	692	WD 11.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCACCAGCTGCTCTGACAAA	0.557000												
DMPK	1760	broad.mit.edu	37	19	46281065	46281065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:46281065C>T	uc002pdd.1	-	6	1316	c.772G>A	c.(772-774)GGT>AGT	p.G258S	DMPK_uc010xxs.1_Missense_Mutation_p.G159S|DMPK_uc002pde.1_Missense_Mutation_p.G258S|DMPK_uc002pdf.1_Missense_Mutation_p.G248S|DMPK_uc002pdg.1_Missense_Mutation_p.G248S|DMPK_uc002pdh.1_Missense_Mutation_p.G248S|DMPK_uc002pdi.1_Missense_Mutation_p.G274S|DMPK_uc010xxt.1_Missense_Mutation_p.G248S	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	258	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCAGGCCCACCGCCCACAGCC	0.652000												
DHX34	9704	broad.mit.edu	37	19	47856911	47856911	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:47856911G>A	uc010xyn.1	+	2	965	c.624G>A	c.(622-624)GCG>GCA	p.A208A	DHX34_uc010elc.1_Silent_p.A208A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	208	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTCATGTGGCGTGCACCCAGC	0.637000												
SCAF1	58506	broad.mit.edu	37	19	50149403	50149403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:50149403C>T	uc002poq.2	+	4	329	c.205C>T	c.(205-207)CGG>TGG	p.R69W		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	69					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCGGCGCTGCCGGAGTCCACG	0.498000												
KLK8	11202	broad.mit.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:51499377C>T	uc002pur.1	-	6	900	c.721G>A	c.(721-723)GTC>ATC	p.V241I	KLK8_uc002puq.1_Missense_Mutation_p.V286I|KLK8_uc002pus.1_Missense_Mutation_p.V100I|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.V241I|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542000												
ZNF83	55769	broad.mit.edu	37	19	53116897	53116897	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:53116897G>A	uc002pzu.3	-	2	2165	c.921C>T	c.(919-921)CAC>CAT	p.H307H	ZNF83_uc002pzv.3_Silent_p.H307H|ZNF83_uc010eps.2_Silent_p.H279H|ZNF83_uc010ept.2_Silent_p.H307H|ZNF83_uc010epu.2_Silent_p.H307H|ZNF83_uc010epv.2_Silent_p.H307H|ZNF83_uc010epw.2_Silent_p.H307H|ZNF83_uc010epx.2_Silent_p.H279H|ZNF83_uc010epy.2_Silent_p.H307H|ZNF83_uc010epz.2_Silent_p.H279H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	307	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GAATTCTCCAGTGATTTACTA	0.428000												
ZNF600	162966	broad.mit.edu	37	19	53270700	53270700	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr19:53270700G>A	uc002qab.3	-	3	595	c.309C>T	c.(307-309)ATC>ATT	p.I103I		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTTTACCTTTGATCTGAATTA	0.403000												
C2orf39	92749	broad.mit.edu	37	2	26676341	26676341	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:26676341C>A	uc002rhg.2	+	14	1917	c.1843C>A	c.(1843-1845)CCC>ACC	p.P615T		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	615											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ggagACCCCACCCTCCCCCTG	0.358000												
EIF2AK2	5610	broad.mit.edu	37	2	37364140	37364140	+	Silent	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:37364140T>C	uc010ynh.1	-	9	1265	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	EIF2AK2_uc010fab.1_Silent_p.Q236Q|EIF2AK2_uc010yng.1_Silent_p.Q236Q|EIF2AK2_uc010fac.2_Silent_p.Q236Q|EIF2AK2_uc010fad.2_Silent_p.Q236Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	236					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TTGCCTTCCTTTGATTATTTC	0.303000												
NRXN1	9378	broad.mit.edu	37	2	50780157	50780158	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:50780157_50780158AT>TA	uc010fbq.2	-	9	2923_2924	c.1446_1447AT>TA	c.(1444-1449)GTATAT>GTTAAT	p.Y483N	NRXN1_uc002rxb.3_Missense_Mutation_p.Y115N|NRXN1_uc002rxe.3_Missense_Mutation_p.Y443N|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTATTTTTATATACAACCTGTG	0.381000												
DCTN1	1639	broad.mit.edu	37	2	74596550	74596550	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:74596550C>A	uc002skx.2	-	14	1772	c.1461G>T	c.(1459-1461)GAG>GAT	p.E487D	DCTN1_uc002skv.2_Missense_Mutation_p.E353D|DCTN1_uc002sku.2_Missense_Mutation_p.E353D|DCTN1_uc002skw.1_Missense_Mutation_p.E463D|DCTN1_uc010ffd.2_Missense_Mutation_p.E467D|DCTN1_uc002sky.2_Missense_Mutation_p.E450D	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	487	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TGTCCAGCTGCTCCCGCAGCT	0.572000												
HOXD4	3233	broad.mit.edu	37	2	177016412	177016412	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:177016412C>A	uc002uks.2	+	1	300	c.51C>A	c.(49-51)TTC>TTA	p.F17L		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACCCCAAGTTCCCTCCGTGCG	0.542000												
TTN	7273	broad.mit.edu	37	2	179444392	179444392	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:179444392T>C	uc010zfg.1	-	268	60052	c.59828A>G	c.(59827-59829)AAA>AGA	p.K19943R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13638R|TTN_uc010zfi.1_Missense_Mutation_p.K13571R|TTN_uc010zfj.1_Missense_Mutation_p.K13446R|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20870							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)			AGTCAAATCTTTTGCAGAGTA	0.413000												
DNAH7	56171	broad.mit.edu	37	2	196749505	196749505	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:196749505G>A	uc002utj.3	-	35	5668	c.5567C>T	c.(5566-5568)TCC>TTC	p.S1856F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1856					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGCACCAACGGACCAGATCAA	0.338000												
EPHA4	2043	broad.mit.edu	37	2	222428528	222428528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:222428528G>A	uc002vmq.2	-	3	788	c.746C>T	c.(745-747)GCA>GTA	p.A249V	EPHA4_uc002vmr.2_Missense_Mutation_p.A249V|EPHA4_uc010zlm.1_Missense_Mutation_p.A190V|EPHA4_uc010zln.1_Missense_Mutation_p.A249V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	249	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCACCATCTGCCCCACAGTA	0.527000												
GPCPD1	56261	broad.mit.edu	37	20	5579448	5579448	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:5579448A>T	uc002wme.3	-	3	282	c.69T>A	c.(67-69)TGT>TGA	p.C23*		NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	23	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						CACAGCTTCCACATATCGCAA	0.418000												
NINL	22981	broad.mit.edu	37	20	25434228	25434228	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:25434228C>G	uc002wux.1	-	24	4082	c.4008G>C	c.(4006-4008)GAG>GAC	p.E1336D	NINL_uc010gdn.1_Missense_Mutation_p.E987D|NINL_uc002wuw.1_Missense_Mutation_p.E127D	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1336	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGTGGGCGTTCTCCACGTACA	0.562000												
PTPRT	11122	broad.mit.edu	37	20	41306531	41306531	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:41306531G>A	uc002xkg.2	-	7	1312	c.1128C>T	c.(1126-1128)CCC>CCT	p.P376P	PTPRT_uc010ggj.2_Silent_p.P376P	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	376	Extracellular (Potential).|Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGTGAGGGGAGGCCCTG	0.547000												
TOMM34	10953	broad.mit.edu	37	20	43580479	43580479	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:43580479T>C	uc002xmy.2	-	4	685	c.545A>G	c.(544-546)AAC>AGC	p.N182S	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	182					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				CTCACCTCTGTTCTTTGTAGC	0.448000												
YTHDF1	54915	broad.mit.edu	37	20	61834049	61834049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:61834049C>A	uc002yeh.2	-	4	1537	c.1243G>T	c.(1243-1245)GAG>TAG	p.E415*	YTHDF1_uc011aaq.1_Nonsense_Mutation_p.E365*	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	415	YTH.									ovary(2)	2						TTGCCGTGCTCTGTGCTACAC	0.552000												
KCNQ2	3785	broad.mit.edu	37	20	62044926	62044926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:62044926C>T	uc002yey.1	-	15	1817	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	KCNQ2_uc002yez.1_Missense_Mutation_p.R516Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.R529Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.R519Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	547	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CACCAGGAACCGCATGACACT	0.657000												
SRMS	6725	broad.mit.edu	37	20	62172223	62172223	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr20:62172223G>C	uc002yfi.1	-	8	1456	c.1415C>G	c.(1414-1416)TCC>TGC	p.S472C		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	472	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTGGCGAAGGAGGGCCGTTC	0.697000												
TUBA8	51807	broad.mit.edu	37	22	18609664	18609664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:18609664C>T	uc002znv.1	+	4	992	c.919C>T	c.(919-921)CCG>TCG	p.P307S	TUBA8_uc002znr.2_Missense_Mutation_p.P241S|TUBA8_uc002znw.1_Missense_Mutation_p.P331S|TUBA8_uc002znx.1_Missense_Mutation_p.P154S	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	307					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						GAAGTGCGACCCGAGACATGG	0.567000												
MYO18B	84700	broad.mit.edu	37	22	26422472	26422472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:26422472C>T	uc003abz.1	+	43	6782	c.6532C>T	c.(6532-6534)CGG>TGG	p.R2178W	MYO18B_uc003aca.1_Missense_Mutation_p.R2059W|MYO18B_uc010guy.1_Missense_Mutation_p.R2060W|MYO18B_uc010guz.1_Missense_Mutation_p.R2058W|MYO18B_uc011aka.1_Missense_Mutation_p.R1332W|MYO18B_uc011akb.1_Missense_Mutation_p.R1691W|MYO18B_uc010gva.1_Missense_Mutation_p.R161W|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2178						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GAGCAGAGCCCGGTCCACCAA	0.537000												
TCN2	6948	broad.mit.edu	37	22	31009006	31009006	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:31009006T>G	uc003aip.1	+	3	562	c.404T>G	c.(403-405)CTG>CGG	p.L135R	TCN2_uc003aiq.1_Missense_Mutation_p.L131R|TCN2_uc003air.1_Intron	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	135					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATGGTTCCTGGAGGATGAG	0.572000												
SLC5A4	6527	broad.mit.edu	37	22	32631073	32631073	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:32631073G>A	uc003ami.2	-	8	674	c.672C>T	c.(670-672)AAC>AAT	p.N224N		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	224	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CTCCAACTTCGTTAAATGCTA	0.423000												
FOXRED2	80020	broad.mit.edu	37	22	36902217	36902217	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:36902217A>G	uc003apn.3	-	1	361	c.253T>C	c.(253-255)TAC>CAC	p.Y85H	FOXRED2_uc003apo.3_Missense_Mutation_p.Y85H|FOXRED2_uc003app.3_Missense_Mutation_p.Y85H	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	85					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						TTGCCCGTGTACCGCTTGTTG	0.647000												
SH3BP1	23616	broad.mit.edu	37	22	38040901	38040901	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr22:38040901C>G	uc003ati.2	+	9	823	c.712C>G	c.(712-714)CAT>GAT	p.H238D	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.H238D|SH3BP1_uc003ath.1_Missense_Mutation_p.H238D|SH3BP1_uc003atj.1_Missense_Mutation_p.H174D|SH3BP1_uc003atk.1_Missense_Mutation_p.H152D|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	238	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGCCGATTACCATCGCAGGTC	0.622000												
RPUSD3	285367	broad.mit.edu	37	3	9882475	9882475	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:9882475A>T	uc011atk.1	-	5	426	c.422T>A	c.(421-423)CTT>CAT	p.L141H	ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.L126H|RPUSD3_uc011atm.1_Missense_Mutation_p.L133H|RPUSD3_uc003btn.2_3'UTR	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	141					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(1)	1	Medulloblastoma(99;0.227)					GAGGAGTACAAGCCCAGAGCT	0.517000												
FYCO1	79443	broad.mit.edu	37	3	46009092	46009092	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:46009092G>C	uc003cpb.3	-	8	1940	c.1734C>G	c.(1732-1734)AAC>AAG	p.N578K	FYCO1_uc011bal.1_Missense_Mutation_p.N578K	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	578					transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCAGACTGGAGTTCACAGGGA	0.637000												
MON1A	84315	broad.mit.edu	37	3	49949401	49949401	+	Silent	SNP	G	G	A	rs149740587		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:49949401G>A	uc003cxz.2	-	3	588	c.462C>T	c.(460-462)TAC>TAT	p.Y154Y	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	57							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGGTCCTCGTAGGAACGGG	0.622000												
DOCK3	1795	broad.mit.edu	37	3	51308381	51308381	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:51308381G>A	uc011bds.1	+	24	2514	c.2491G>A	c.(2491-2493)GTG>ATG	p.V831M		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	831						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCAATGGACGTGGTCAAGCT	0.537000												
ATP2C1	27032	broad.mit.edu	37	3	130656284	130656284	+	Missense_Mutation	SNP	G	G	A	rs142366167		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:130656284G>A	uc003enl.2	+	6	559	c.337G>A	c.(337-339)GTT>ATT	p.V113I	ATP2C1_uc011blg.1_Missense_Mutation_p.V147I|ATP2C1_uc011blh.1_Missense_Mutation_p.V108I|ATP2C1_uc011bli.1_Missense_Mutation_p.V147I|ATP2C1_uc003enk.2_Missense_Mutation_p.V97I|ATP2C1_uc003enm.2_Missense_Mutation_p.V113I|ATP2C1_uc003enn.2_Missense_Mutation_p.V97I|ATP2C1_uc003eno.2_Missense_Mutation_p.V113I|ATP2C1_uc003enp.2_Missense_Mutation_p.V113I|ATP2C1_uc003enq.2_Missense_Mutation_p.V113I|ATP2C1_uc003enr.2_Missense_Mutation_p.V113I|ATP2C1_uc003ens.2_Missense_Mutation_p.V113I|ATP2C1_uc003ent.2_Missense_Mutation_p.V113I	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	113	Helical; Name=2; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATACTTATCGTTGTTACAGT	0.328000									Hailey-Hailey_disease			
ATR	545	broad.mit.edu	37	3	142297490	142297490	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:142297490G>A	uc003eux.3	-	1	179	c.57C>T	c.(55-57)GGC>GGT	p.G19G		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	19					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						AGCCCTACCTGCCCAGCTCCC	0.662000								Other_conserved_DNA_damage_response_genes				
ACTL6A	86	broad.mit.edu	37	3	179298958	179298958	+	Missense_Mutation	SNP	A	A	C	rs34740204	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:179298958A>C	uc003fjw.2	+	11	1149	c.976A>C	c.(976-978)AGT>CGT	p.S326R	ACTL6A_uc003fjx.2_Missense_Mutation_p.S284R|ACTL6A_uc003fjy.2_Missense_Mutation_p.S284R	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	326					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GTTAGGAGTCAGTCATGTTGT	0.398000												
CLDN16	10686	broad.mit.edu	37	3	190105886	190105886	+	Translation_Start_Site	SNP	T	T	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:190105886T>A	uc003fsi.2	+	1	46	c.-22T>A	c.(-24--20)GATTG>GAATG		CLDN16_uc010hze.2_Translation_Start_Site	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16						calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGCCTTCTGATTGGAGGCTGG	0.532000												
FAM193A	8603	broad.mit.edu	37	4	2641518	2641518	+	Silent	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:2641518G>C	uc010icl.2	+	4	573	c.222G>C	c.(220-222)CTG>CTC	p.L74L	FAM193A_uc010ick.2_Silent_p.L274L|FAM193A_uc003gfd.2_Silent_p.L74L|FAM193A_uc011bvm.1_Silent_p.L74L|FAM193A_uc011bvn.1_Silent_p.L74L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	74										ovary(3)	3						ATAAACACCTGTTTGAAAATC	0.398000												
PDS5A	23244	broad.mit.edu	37	4	39978195	39978195	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:39978195C>A	uc003guv.3	-	2	543	c.3G>T	c.(1-3)ATG>ATT	p.M1I	PDS5A_uc010ifo.2_Intron|PDS5A_uc003guw.3_Missense_Mutation_p.M1I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CGGTGAAGTCCATCCTGGGGG	0.562000											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UGT2B11	10720	broad.mit.edu	37	4	70066333	70066333	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:70066333C>A	uc003heh.2	-	6	1424	c.1415G>T	c.(1414-1416)GGA>GTA	p.G472V	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	472					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						GTGTTTGGCTCCTTTGTGGGG	0.453000												
ADH6	130	broad.mit.edu	37	4	100134789	100134789	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:100134789C>G	uc003hup.3	-	3	330	c.236G>C	c.(235-237)GGA>GCA	p.G79A	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.G79A|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Missense_Mutation_p.G79A	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	79					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TACTCCTTCTCCAATACTCTC	0.463000												
KIAA1109	84162	broad.mit.edu	37	4	123147962	123147963	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:123147962_123147963GA>TT	uc003ieh.2	+	22	2939_2940	c.2894_2895GA>TT	c.(2893-2895)GGA>GTT	p.G965V	KIAA1109_uc003iei.1_Missense_Mutation_p.G718V|KIAA1109_uc010ins.1_Missense_Mutation_p.G308V|KIAA1109_uc003iej.1_3'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	965					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGTCAGCATGGAATTGATCGTC	0.351000												
POU4F2	5458	broad.mit.edu	37	4	147561058	147561058	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:147561058C>G	uc003ikv.2	+	2	576	c.328C>G	c.(328-330)CGC>GGC	p.R110G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	110	POU-IV box.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			breast(1)	1	all_hematologic(180;0.151)					TCTGCTGGCCCGCGCCGAGGC	0.597000												
TIGD4	201798	broad.mit.edu	37	4	153691798	153691798	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:153691798T>C	uc003imy.2	-	2	1141	c.359A>G	c.(358-360)AAA>AGA	p.K120R		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	120	HTH CENPB-type.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					ATGGCCCAGTTTCTGGGCAAA	0.403000												
LRP2BP	55805	broad.mit.edu	37	4	186299314	186299314	+	Silent	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr4:186299314G>C	uc003ixj.1	-	1	839	c.27C>G	c.(25-27)CCC>CCG	p.P9P	LRP2BP_uc003ixk.1_5'UTR|LRP2BP_uc011ckr.1_Silent_p.P9P	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	9						cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AGGGGTTCTTGGGCAACTTTT	0.363000												
SLC6A18	348932	broad.mit.edu	37	5	1239618	1239618	+	Silent	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:1239618C>T	uc003jby.1	+	6	909	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	262	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGATATTCTTCTCTCTGT	0.577000												
DNAH5	1767	broad.mit.edu	37	5	13944508	13944508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:13944508C>T	uc003jfd.2	-	1	82	c.40G>A	c.(40-42)GTC>ATC	p.V14I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	14	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)					ACTCGAGTGACGCTATGCTTC	0.468000									Kartagener_syndrome			
ITGA1	3672	broad.mit.edu	37	5	52204856	52204856	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:52204856G>A	uc003jou.2	+	13	1636	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.V59V	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	528	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAGTGTATGTGTATGCTCTCA	0.378000												
VCAN	1462	broad.mit.edu	37	5	82816417	82816417	+	Silent	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:82816417A>G	uc003kii.3	+	7	2648	c.2292A>G	c.(2290-2292)AGA>AGG	p.R764R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.R764R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	764	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGAAGTAAGAGATATGGAGG	0.383000												
ATP10B	23120	broad.mit.edu	37	5	160033937	160033937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:160033937C>T	uc003lym.1	-	19	3842	c.2995G>A	c.(2995-2997)GAT>AAT	p.D999N	ATP10B_uc010jit.1_Missense_Mutation_p.D316N	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	999	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTTCCCATCGATGACCAAT	0.517000												
DTNBP1	84062	broad.mit.edu	37	6	15524837	15524837	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:15524837A>C	uc003nbm.2	-	9	902	c.731T>G	c.(730-732)ATG>AGG	p.M244R	DTNBP1_uc003nbl.2_Missense_Mutation_p.M163R|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.M244R|DTNBP1_uc010jph.2_Missense_Mutation_p.M231R	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	244	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CGATATGTCCATCAGGTCCAT	0.542000									Hermansky-Pudlak_syndrome			
HIST1H2BC	8347	broad.mit.edu	37	6	26124041	26124041	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:26124041T>G	uc003ngk.3	-	1	114	c.92A>C	c.(91-93)AAG>ACG	p.K31T	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.K31T|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	31					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						GCGGCTGCGCTTGCGCTTCTT	0.542000												
GPX6	257202	broad.mit.edu	37	6	28478608	28478608	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:28478608A>G	uc011dlj.1	-	2	211	c.161T>C	c.(160-162)ATC>ACC	p.I54T	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	54					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	CTTGAATTGGATGTACTCCTC	0.478000												
PSMB8	5696	broad.mit.edu	37	6	32809961	32809961	+	Missense_Mutation	SNP	G	G	A	rs55835906		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:32809961G>A	uc003oce.2	-	4	530	c.487C>T	c.(487-489)CGG>TGG	p.R163W	PSMB8_uc003ocf.2_Missense_Mutation_p.R159W|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	163					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|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						CCCATGCCCCGGTACTGGCAC	0.537000												
PACSIN1	29993	broad.mit.edu	37	6	34498360	34498360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:34498360G>A	uc003ojo.2	+	8	1239	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	PACSIN1_uc003ojp.2_Missense_Mutation_p.G345S	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	345					endocytosis		protein kinase activity				0						TGGGGACCGCGGCAGGTGAGT	0.587000												
AARS2	57505	broad.mit.edu	37	6	44274230	44274230	+	Splice_Site	SNP	C	C	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:44274230C>G	uc010jza.1	-	8	1191	c.1188_splice	c.e8+1	p.Q396_splice	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial						alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GAATCCAGTACCTGGGCTGAG	0.577000												
CD109	135228	broad.mit.edu	37	6	74407197	74407197	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:74407197A>G	uc003php.2	+	2	574	c.149A>G	c.(148-150)GAA>GGA	p.E50G	CD109_uc010kaz.2_Missense_Mutation_p.E50G|CD109_uc003phq.2_Missense_Mutation_p.E50G|CD109_uc010kba.2_Missense_Mutation_p.E50G|uc003pho.1_5'Flank	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	50						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGCTTCTGGAACACTGCCCT	0.522000												
NOX3	50508	broad.mit.edu	37	6	155761124	155761124	+	Missense_Mutation	SNP	C	C	T	rs143056669	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:155761124C>T	uc003qqm.2	-	6	737	c.634G>A	c.(634-636)GTC>ATC	p.V212I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	212	Ferric oxidoreductase.|Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGAAAGAAGACGATGAAAACA	0.468000												
C6orf118	168090	broad.mit.edu	37	6	165715558	165715558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr6:165715558G>A	uc003qum.3	-	2	289	c.253C>T	c.(253-255)CGG>TGG	p.R85W	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	85											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCCTTGGGCCGGTGGGCATTG	0.652000												
C1GALT1	56913	broad.mit.edu	37	7	7283186	7283186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:7283186C>T	uc010ktn.2	+	4	1143	c.920C>T	c.(919-921)TCT>TTT	p.S307F	C1GALT1_uc003sra.2_Missense_Mutation_p.S307F|uc003srb.1_5'Flank	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	307	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CTTGCAGTTTCTTTTCACTAT	0.348000												
DNAH11	8701	broad.mit.edu	37	7	21630895	21630895	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:21630895G>A	uc003svc.2	+	14	2398	c.2367G>A	c.(2365-2367)CTG>CTA	p.L789L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	789	Stem (By similarity).				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						AAGATGAGCTGAGGGCTATTG	0.512000									Kartagener_syndrome			
MUC17	140453	broad.mit.edu	37	7	100675458	100675458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:100675458G>A	uc003uxp.1	+	3	814	c.761G>A	c.(760-762)AGT>AAT	p.S254N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	254	Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTCAAGCCAGTTCATCTCCT	0.512000												
CTTNBP2	83992	broad.mit.edu	37	7	117400721	117400721	+	Silent	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:117400721T>C	uc003vjf.2	-	10	3032	c.2940A>G	c.(2938-2940)GAA>GAG	p.E980E		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	980										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGTTGCTTGGTTCAATCTCAC	0.338000												
FAM71F2	346653	broad.mit.edu	37	7	128317770	128317770	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:128317770T>C	uc003vnk.3	+	3	624	c.518T>C	c.(517-519)ATT>ACT	p.I173T	FAM71F2_uc010llm.1_Missense_Mutation_p.I164T|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	173											0						TTGGTGAAAATTCTGCAGAAA	0.478000												
PLXNA4	91584	broad.mit.edu	37	7	132193205	132193205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:132193205G>A	uc003vra.3	-	2	477	c.248C>T	c.(247-249)ACG>ATG	p.T83M	PLXNA4_uc003vrc.2_Missense_Mutation_p.T83M|PLXNA4_uc003vrb.2_Missense_Mutation_p.T83M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	83	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGTCTCATGCGTCACCAAGAC	0.557000												
PTPRN2	5799	broad.mit.edu	37	7	157926444	157926445	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr7:157926444_157926445GC>AA	uc003wno.2	-	9	1601_1602	c.1480_1481GC>TT	c.(1480-1482)GCC>TTC	p.A494F	PTPRN2_uc003wnp.2_Missense_Mutation_p.A477F|PTPRN2_uc003wnq.2_Missense_Mutation_p.A494F|PTPRN2_uc003wnr.2_Missense_Mutation_p.A456F|PTPRN2_uc011kwa.1_Missense_Mutation_p.A517F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	494	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCGCTGAGGGCCTCCTGAGCA	0.653000												
CSMD1	64478	broad.mit.edu	37	8	2967802	2967802	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:2967802A>C	uc011kwk.1	-	43	6879	c.6489T>G	c.(6487-6489)TTT>TTG	p.F2163L	CSMD1_uc011kwj.1_Missense_Mutation_p.F1555L|CSMD1_uc010lrg.2_Missense_Mutation_p.F231L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2163	Extracellular (Potential).|CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCATCAGGAAAGCCAGGGG	0.502000												
PRDM14	63978	broad.mit.edu	37	8	70980506	70980506	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:70980506T>C	uc003xym.2	-	4	1073	c.871A>G	c.(871-873)AGT>GGT	p.S291G		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	291	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTCACTTCACTGGCATTGACC	0.498000												
HEY1	23462	broad.mit.edu	37	8	80677768	80677768	+	Silent	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:80677768G>A	uc003ybm.2	-	5	770	c.570C>T	c.(568-570)ATC>ATT	p.I190I	HEY1_uc010lzq.2_Silent_p.I71I|HEY1_uc003ybl.2_Silent_p.I194I	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	190					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GCGGGTGCGCGATGTGCGGGT	0.697000											OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PAG1	55824	broad.mit.edu	37	8	81897495	81897495	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:81897495C>T	uc003ybz.2	-	7	1103	c.392G>A	c.(391-393)CGG>CAG	p.R131Q		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	131	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGGCAGCTCCCGACTCTGATG	0.587000												
MMP16	4325	broad.mit.edu	37	8	89053829	89053829	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:89053829C>A	uc003yeb.3	-	10	1966	c.1684G>T	c.(1684-1686)GTG>TTG	p.V562L		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	562	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ATGGCTTTCACAGTGCTGGCT	0.468000												
COL14A1	7373	broad.mit.edu	37	8	121344951	121344951	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:121344951C>A	uc003yox.2	+	42	5027	c.4762C>A	c.(4762-4764)CCG>ACG	p.P1588T	COL14A1_uc003yoz.2_Missense_Mutation_p.P553T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1588	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGCATGGGACCGCAAGGCGC	0.507000												
FAM166B	730112	broad.mit.edu	37	9	35563035	35563035	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:35563035C>A	uc010mkr.2	-	3	400	c.329G>T	c.(328-330)AGC>ATC	p.S110I	FAM166B_uc011lov.1_Missense_Mutation_p.S110I|FAM166B_uc011low.1_Missense_Mutation_p.S110I|FAM166B_uc003zwy.2_Missense_Mutation_p.S110I	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	110											0						CCAGACCTGGCTGCAGTTCTT	0.537000												
PRUNE2	158471	broad.mit.edu	37	9	79326133	79326133	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:79326133T>C	uc010mpk.2	-	8	1181	c.1057A>G	c.(1057-1059)ATC>GTC	p.I353V		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	353					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTCCTGTTGATGACTTCCTTG	0.542000												
VPS13A	23230	broad.mit.edu	37	9	79865064	79865064	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:79865064A>C	uc004akr.2	+	21	2349	c.2089A>C	c.(2089-2091)AAT>CAT	p.N697H	VPS13A_uc004akp.3_Missense_Mutation_p.N697H|VPS13A_uc004akq.3_Missense_Mutation_p.N697H|VPS13A_uc004aks.2_Missense_Mutation_p.N697H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	697					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGGTGAGGCCAATCTTAAAGA	0.323000												
C9orf84	158401	broad.mit.edu	37	9	114464476	114464476	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:114464476A>G	uc004bfr.2	-	21	2941	c.2806T>C	c.(2806-2808)TCA>CCA	p.S936P	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.S897P|C9orf84_uc010mug.2_Missense_Mutation_p.S847P	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	936										ovary(2)	2						ATATTGTCTGATGCCTTCTCA	0.264000												
C9orf84	158401	broad.mit.edu	37	9	114500580	114500580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:114500580G>A	uc004bfr.2	-	10	1340	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.T466M|C9orf84_uc004bfq.2_Missense_Mutation_p.T363M|C9orf84_uc010mug.2_Missense_Mutation_p.T348M	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	402										ovary(2)	2						AAGCACTTTCGTAGGCAAAAA	0.284000												
ASTN2	23245	broad.mit.edu	37	9	119976979	119976979	+	Missense_Mutation	SNP	C	C	T	rs144385545		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:119976979C>T	uc004bjs.1	-	3	774	c.673G>A	c.(673-675)GTG>ATG	p.V225M	ASTN2_uc004bjr.1_Missense_Mutation_p.V225M|ASTN2_uc004bjt.1_Missense_Mutation_p.V225M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	225	Helical; (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TACAGCGCCACGGTGAACACC	0.602000												
RBM18	92400	broad.mit.edu	37	9	125023768	125023768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:125023768C>T	uc004bma.2	-	2	170	c.4G>A	c.(4-6)GAA>AAA	p.E2K	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	2							nucleotide binding|RNA binding				0						GTTTCTGCTTCCATCAATGTC	0.438000												
SPTAN1	6709	broad.mit.edu	37	9	131381150	131381150	+	Silent	SNP	G	G	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr9:131381150G>C	uc004bvl.3	+	43	5699	c.5586G>C	c.(5584-5586)CGG>CGC	p.R1862R	SPTAN1_uc004bvm.3_Silent_p.R1867R|SPTAN1_uc004bvn.3_Silent_p.R1842R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1862	Spectrin 19.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CTGTAATTAGGGGTCAGCGGC	0.418000												
MAP7D3	79649	broad.mit.edu	37	X	135314112	135314112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chrX:135314112G>A	uc004ezt.2	-	8	1095	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	MAP7D3_uc004ezs.2_Missense_Mutation_p.T299M|MAP7D3_uc011mwc.1_Missense_Mutation_p.T317M|MAP7D3_uc010nsa.1_Missense_Mutation_p.T293M	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	335						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GAATGAGTCCGTGCTCACCTC	0.572000												
MARCKSL1	65108	broad.mit.edu	37	1	32800283	32800285	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr1:32800283_32800285delTCT	uc001bvd.2	-	2	701_703	c.501_503delAGA	c.(499-504)GAAGAG>GAG	p.167_168EE>E		NM_023009	NP_075385	P49006	MRP_HUMAN	MARCKS-like 1	167_168						plasma membrane	calmodulin binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCCCTGCCTCTTCTTCTGAGG	0.665												
RNF123	63891	broad.mit.edu	37	3	49742159	49742159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr3:49742159delG	uc003cxh.2	+	22	2015	c.1929delG	c.(1927-1929)GAGfs	p.E643fs	RNF123_uc010hky.1_Frame_Shift_Del_p.E305fs|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	643						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTAGATGAGGATGAGGAGC	0.577												
SNX17	9784	broad.mit.edu	37	2	27595528	27595529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:27595527_27595528T>TC	uc002rkg.1	+	2	398_399	c.176_177T>TC	c.(175-177)ttcfs	p.F59fs	EIF2B4_uc002rjz.3_5'Flank|EIF2B4_uc002rka.3_5'Flank|EIF2B4_uc002rkb.3_5'Flank|EIF2B4_uc002rkc.3_5'Flank|EIF2B4_uc002rke.3_5'Flank|EIF2B4_uc002rkf.1_5'Flank|SNX17_uc010ylj.1_Frame_Shift_Ins_p.F39fs|SNX17_uc002rki.1_Intron|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_Intron|SNX17_uc010yln.1_Frame_Shift_Ins_p.F47fs|SNX17_uc010ylo.1_5'UTR|SNX17_uc010ylp.1_Frame_Shift_Ins_p.F34fs|SNX17_uc010ylk.1_Intron|SNX17_uc010eza.1_Intron|SNX17_uc010ylq.1_5'UTR	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	59	PX.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCTGCATTCCCCCCAAAGA	0.455												
MFSD6	54842	broad.mit.edu	37	2	191364829	191364846	+	In_Frame_Del	DEL	CATCCCCTGACGCAGCAG	CATCCCCTGACGCAGCAG	-	rs150227947	byFrequency	TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr2:191364828_191364845CCATCCCCTGACGCAGCAG>C	uc002urz.2	+	7	2584_2601	c.2260_2277CCATCCCCTGACGCAGCAG>C	c.(2260-2277)ccatcccctgacgcagca>C	p.PSPDAA754del	MFSD6_uc010zge.1_In_Frame_Del_p.PSPDAA216del	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	754					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TAGAAACCAGCCATCCCCTGACGCAGCAGCATCTCAGA	0.587												
ADAMTS16	170690	broad.mit.edu	37	5	5186198	5186217	+	Frame_Shift_Del	DEL	TCTTGCCAGATGAGTATAAG	TCTTGCCAGATGAGTATAAG	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:5186197_5186216ATCTTGCCAGATGAGTATAAG>A	uc003jdl.3	+	4	934_953	c.796_815ATCTTGCCAGATGAGTATAAG>A	c.(796-816)atcttgccagatgagtataagfs	p.I266fs	ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.I266fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.I266fs	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	266					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGACCTCTTCATCTTGCCAGATGAGTATAAGTCTTGCTTA	0.491												
CD180	4064	broad.mit.edu	37	5	66479644	66479652	+	In_Frame_Del	DEL	TGGCAGCAC	TGGCAGCAC	-	rs142848963		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr5:66479643_66479651TTGGCAGCAC>T	uc003juy.2	-	2	1168_1176	c.1020_1028GTGCTGCCAA>A	c.(1018-1029)agtgctgccaat>agAt	p.340_343SAAN>R		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	340					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGAGGGGAAATTGGCAGCACTGATTTGAC	0.440												
PSKH2	85481	broad.mit.edu	37	8	87076394	87076394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:87076393_87076393GT>G	uc011lfy.2	-	1	653	c.653_653AC>C	c.(652-654)acafs	p.T218fs		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	218	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGTCTTCATTGTCCAGTCACC	0.443												
RECQL4	9401	broad.mit.edu	37	8	145741513	145741518	+	In_Frame_Del	DEL	AGCCCT	AGCCCT	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr8:145741512_145741517CAGCCCT>C	uc003zdj.3	-	4	1028_1033	c.986_991AGGGCTG>G	c.(985-993)agggctggg>aGgg	p.AG330del	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	330					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGCCTTCCCAGCCCTAGCTTGACT	0.621			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			
ZFC3H1	196441	broad.mit.edu	37	12	72056930	72056947	+	In_Frame_Del	DEL	CCACCCCGGTAAGGCCTG	CCACCCCGGTAAGGCCTG	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:72056929_72056946CCCACCCCGGTAAGGCCTG>C	uc001swo.2	-	0	804_821	c.445_462CAGGCCTTACCGGGGTGGG>G	c.(445-462)aggccttaccggggtggg>G	p.RPYRGG149del	ZFC3H1_uc010sts.2_In_Frame_Del_p.RPYRGG149del|ZFC3H1_uc001swp.3_In_Frame_Del_p.RPYRGG149del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	149					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGCGACTCCCACCCCGGTAAGGCCTGCCTCGAAAG	0.656												
ACACB	32	broad.mit.edu	37	12	109693967	109693981	+	In_Frame_Del	DEL	CGGATTCTTTGACCA	CGGATTCTTTGACCA	-	rs150701956		TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr12:109693966_109693980GCGGATTCTTTGACCA>G	uc001tob.3	+	44	6307_6321	c.6188_6202GCGGATTCTTTGACCA>G	c.(6187-6204)agcggattctttgaccac>aGac	p.2063_2068SGFFDH>R	ACACB_uc001toc.3_In_Frame_Del_p.2063_2068SGFFDH>R|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_In_Frame_Del_p.729_734SGFFDH>R	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2063	Carboxyltransferase.				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)	ACGTGGCAGAGCGGATTCTTTGACCACGGCAGTTT	0.605												
FOXN1	8456	broad.mit.edu	37	17	26857812	26857825	+	Frame_Shift_Del	DEL	TCCCGTCAGCGAGA	TCCCGTCAGCGAGA	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:26857811_26857824TTCCCGTCAGCGAGA>T	uc010crm.3	+	5	1073_1086	c.875_888TTCCCGTCAGCGAGA>T	c.(874-888)cttcccgtcagcgagfs	p.L292fs	FOXN1_uc002hbj.3_Frame_Shift_Del_p.L292fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	292					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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACTGGGAGCCTTCCCGTCAGCGAGATCTACAATT	0.533												
ACLY	47	broad.mit.edu	37	17	40030139	40030139	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A4IY-01A-11D-A25D-08	TCGA-BR-A4IY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5988941-c04e-4acd-aaaa-e1a8caf1d68f	7b0b2c41-547a-4afe-b064-1fd5068ec402	g.chr17:40030138_40030138GC>G	uc002hyg.3	-	22	2731	c.2568_2568GC>C	c.(2566-2568)ggcfs	p.G856fs	ACLY_uc002hyh.3_Frame_Shift_Del_p.G846fs|ACLY_uc002hyi.3_Frame_Shift_Del_p.G910fs|ACLY_uc010wfx.2_Frame_Shift_Del_p.G900fs|ACLY_uc010wfy.2_Frame_Shift_Del_p.G585fs	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	856					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGATGGGCATGCCCGCGTAGA	0.567