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
ARID1A	8289	broad.mit.edu	37	1	27100312	27100312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:27100312C>T	uc001bmv.1	+	17	4397	c.4024C>T	c.(4024-4026)CAG>TAG	p.Q1342*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1341*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1342*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q959*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q188*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1342	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATGGCAATCAGTTCTCCAC	0.542			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
MOV10	4343	broad.mit.edu	37	1	113241043	113241043	+	Silent	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:113241043G>A	uc001eck.2	+	16	2721	c.2451G>A	c.(2449-2451)AAG>AAA	p.K817K	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.K817K|MOV10_uc001ecm.2_Silent_p.K757K	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	817					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCTCCAAGAAGGGCAAAGCTC	0.607												
NGF	4803	broad.mit.edu	37	1	115829244	115829244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:115829244G>A	uc001efu.1	-	3	342	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	58					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGCAGCTATCGCCGCTGCCGG	0.617												
CD58	965	broad.mit.edu	37	1	117087145	117087145	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:117087145A>T	uc001egm.2	-	2	273	c.152T>A	c.(151-153)TTA>TAA	p.L51*	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Nonsense_Mutation_p.L51*|CD58_uc001ego.1_RNA|CD58_uc001egp.3_Nonsense_Mutation_p.L51*	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	51	Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GACCTCTTTTAAAGGCACATT	0.333												
SLAMF1	6504	broad.mit.edu	37	1	160589609	160589609	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:160589609T>C	uc001fwl.3	-	5	1167	c.821A>G	c.(820-822)GAA>GGA	p.E274G	SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	274	Cytoplasmic (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTTTTTTTTTCCACTGTTGT	0.438												
EDEM3	80267	broad.mit.edu	37	1	184663564	184663564	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:184663564T>A	uc010pok.1	-	20	2693	c.2432A>T	c.(2431-2433)GAT>GTT	p.D811V	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.D827V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	811					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						ATTCTGAGAATCATTTTCAGA	0.358												
RNF2	6045	broad.mit.edu	37	1	185068944	185068944	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:185068944C>T	uc001grc.1	+	6	992	c.759C>T	c.(757-759)AAC>AAT	p.N253N	RNF2_uc001grd.1_Silent_p.N181N|RNF2_uc001gre.1_RNA	NM_007212	NP_009143	Q99496	RING2_HUMAN	ring finger protein 2	253					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CTTCTGGTAACGCCACTGTTG	0.338												
AIDA	64853	broad.mit.edu	37	1	222843513	222843513	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:222843513C>T	uc001hnn.2	-	9	991	c.786G>A	c.(784-786)GAG>GAA	p.E262E	AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Silent_p.E238E	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	262					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0						TTTCATCCATCTCCATGAAAG	0.348												
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368												
OR2T4	127074	broad.mit.edu	37	1	248525601	248525601	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:248525601T>G	uc001ieh.1	+	1	719	c.719T>G	c.(718-720)CTC>CGC	p.L240R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	240	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483												
OR2G6	391211	broad.mit.edu	37	1	248685218	248685218	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:248685218A>C	uc001ien.1	+	1	271	c.271A>C	c.(271-273)ACC>CCC	p.T91P		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAAGACAAAACCATGAGCTA	0.517												
PITRM1	10531	broad.mit.edu	37	10	3197782	3197782	+	Splice_Site	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:3197782C>T	uc010qah.1	-	13	1557	c.1525_splice	c.e13+1	p.G509_splice	PITRM1_uc001igr.1_Splice_Site_p.G541_splice|PITRM1_uc001igt.1_Splice_Site_p.G541_splice|PITRM1_uc009xhv.1_Splice_Site_p.G106_splice|PITRM1_uc001igu.1_Splice_Site_p.G533_splice|PITRM1_uc010qai.1_Splice_Site_p.G512_splice|PITRM1_uc001igw.1_Splice_Site_p.G541_splice			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;						proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						AAGCCTCTGACCTTTCTCGTA	0.542												
BMS1	9790	broad.mit.edu	37	10	43292386	43292386	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:43292386A>C	uc001jaj.2	+	10	2052	c.1694A>C	c.(1693-1695)AAG>ACG	p.K565T		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	565					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AATCTGGAGAAGTCTTTGCTG	0.493												
BMS1	9790	broad.mit.edu	37	10	43292525	43292525	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:43292525G>C	uc001jaj.2	+	10	2191	c.1833G>C	c.(1831-1833)GAG>GAC	p.E611D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	611					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AAAATGAAGAGGCTATTAGAA	0.423												
ZWINT	11130	broad.mit.edu	37	10	58118565	58118565	+	Splice_Site	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:58118565C>T	uc001jjx.1	-	6	660	c.623_splice	c.e6+1	p.R208_splice	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Splice_Site_p.R208_splice|ZWINT_uc009xoy.1_Splice_Site	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CCCGAACTTACCTCTGCAGCT	0.522												
SORCS1	114815	broad.mit.edu	37	10	108459010	108459010	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:108459010T>C	uc001kym.2	-	9	1383	c.1375A>G	c.(1375-1377)AGA>GGA	p.R459G	SORCS1_uc001kyl.2_Missense_Mutation_p.R459G|SORCS1_uc009xxs.2_Missense_Mutation_p.R459G|SORCS1_uc001kyn.1_Missense_Mutation_p.R459G|SORCS1_uc001kyo.2_Missense_Mutation_p.R459G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	459	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCAGGGCCTCTGCTGCTCTGG	0.542												
TDRD1	56165	broad.mit.edu	37	10	115959035	115959035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:115959035C>T	uc001lbg.1	+	4	641	c.488C>T	c.(487-489)CCT>CTT	p.P163L	TDRD1_uc001lbf.2_Missense_Mutation_p.P154L|TDRD1_uc001lbh.1_Missense_Mutation_p.P154L|TDRD1_uc001lbi.1_Missense_Mutation_p.P154L	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	163					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCTTAGGACCTCCTCTTCGG	0.408												
OR52E6	390078	broad.mit.edu	37	11	5862742	5862742	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:5862742C>A	uc010qzq.1	-	1	386	c.386G>T	c.(385-387)TGC>TTC	p.C129F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGGTTTGCAAATGGCAAT	0.478												
OR9G9	504191	broad.mit.edu	37	11	56468143	56468143	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:56468143G>A	uc010rjn.1	+	1	280	c.280G>A	c.(280-282)GCT>ACT	p.A94T		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATCTCCTTTGCTGGCTGCCT	0.507												
PGA3	643834	broad.mit.edu	37	11	60971081	60971081	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:60971081C>T	uc001nqx.2	+	1	98	c.45C>T	c.(43-45)TGC>TGT	p.C15C	PGA3_uc010rld.1_Silent_p.C15C	NM_001079807	NP_001073275			pepsinogen 3, group I precursor											ovary(1)|skin(1)	2						TCTCTGAGTGCATCATGTACA	0.567												
MARK2	2011	broad.mit.edu	37	11	63672270	63672270	+	Silent	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:63672270G>A	uc001nxw.2	+	16	2268	c.1689G>A	c.(1687-1689)CAG>CAA	p.Q563Q	MARK2_uc001nxx.2_Silent_p.Q509Q|MARK2_uc001nxy.2_Silent_p.Q508Q|MARK2_uc001nxv.3_Silent_p.Q508Q|MARK2_uc001nxz.3_Silent_p.Q529Q|MARK2_uc009yoy.2_Silent_p.Q483Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	563					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CAGCCCCCCAGCGTGTCCCTG	0.632												
GRM5	2915	broad.mit.edu	37	11	88780590	88780590	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:88780590A>G	uc001pcq.2	-	1	651	c.451T>C	c.(451-453)TCC>CCC	p.S151P	GRM5_uc009yvm.2_Missense_Mutation_p.S151P|GRM5_uc009yvn.1_Missense_Mutation_p.S151P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	151	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACAGAACTGGAGCCAGGCCCA	0.502												
NCAM1	4684	broad.mit.edu	37	11	113076865	113076865	+	Silent	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr11:113076865G>A	uc009yyq.1	+	5	931	c.237G>A	c.(235-237)GGG>GGA	p.G79G	NCAM1_uc001pno.2_Silent_p.G79G	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	197	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGCACGGGGGGAGATCAACT	0.493												
EPS8	2059	broad.mit.edu	37	12	15811466	15811466	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr12:15811466A>C	uc009zif.2	-	11	1085	c.991T>G	c.(991-993)TGT>GGT	p.C331G	EPS8_uc001rdb.2_Missense_Mutation_p.C331G|EPS8_uc009zig.2_Missense_Mutation_p.C71G|EPS8_uc010shv.1_Missense_Mutation_p.C71G	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	331					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTTTGGAAACAGTCAAGAAAT	0.368												
OR10P1	121130	broad.mit.edu	37	12	56031172	56031172	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr12:56031172C>T	uc010spq.1	+	1	497	c.497C>T	c.(496-498)TCT>TTT	p.S166F		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CTCATCTTCTCTCTACCTTTT	0.592												
DIAPH3	81624	broad.mit.edu	37	13	60545059	60545059	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr13:60545059A>G	uc001vht.2	-	16	2105	c.1886T>C	c.(1885-1887)ATC>ACC	p.I629T	DIAPH3_uc001vhu.2_Missense_Mutation_p.I366T|DIAPH3_uc001vhv.2_Missense_Mutation_p.I207T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	629	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATGGCAGGATTGGTAGAGG	0.438												
COL4A2	1284	broad.mit.edu	37	13	111111150	111111150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr13:111111150G>A	uc001vqx.2	+	22	1754	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	489	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TACAGAAGGCGACGAAGCTAT	0.627												
AHNAK2	113146	broad.mit.edu	37	14	105405849	105405849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr14:105405849C>T	uc010axc.1	-	7	16059	c.15939G>A	c.(15937-15939)ATG>ATA	p.M5313I	AHNAK2_uc001ypx.2_Missense_Mutation_p.M5213I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5313						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGAAGCCTCATGCCAGGCA	0.507												
ITGA11	22801	broad.mit.edu	37	15	68661546	68661546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr15:68661546C>T	uc002ari.2	-	3	328	c.241G>A	c.(241-243)GGG>AGG	p.G81R	ITGA11_uc010bib.2_Missense_Mutation_p.G81R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	81	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GTGCAGTTCCCGTGGATCACT	0.473												
C15orf32	145858	broad.mit.edu	37	15	93015418	93015418	+	Silent	SNP	T	T	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr15:93015418T>C	uc002brc.1	+	1	512	c.40T>C	c.(40-42)TTG>CTG	p.L14L	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	14										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AAAGGAAGACTTGCACCCGGC	0.368												
SETD1A	9739	broad.mit.edu	37	16	30976237	30976237	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr16:30976237C>A	uc002ead.1	+	7	1860	c.1174C>A	c.(1174-1176)CCC>ACC	p.P392T		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	392	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						ACGGGAGGAACCCCCTGGAGC	0.587												
ABCA8	10351	broad.mit.edu	37	17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr17:66871845G>A	uc002jhp.2	-	34	4459	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	ABCA8_uc002jhq.2_Missense_Mutation_p.T1467M|ABCA8_uc010wqq.1_Missense_Mutation_p.T1462M	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483												
SYT4	6860	broad.mit.edu	37	18	40850508	40850508	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr18:40850508A>G	uc002law.2	-	4	1445	c.1076T>C	c.(1075-1077)GTC>GCC	p.V359A	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.V341A|SYT4_uc010dnh.2_RNA	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	359	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						AATATCAAAGACAAACAGCTC	0.418												
MUC16	94025	broad.mit.edu	37	19	9007843	9007843	+	Silent	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:9007843A>C	uc002mkp.2	-	42	39585	c.39381T>G	c.(39379-39381)GGT>GGG	p.G13127G	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13129	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGGGTGAAACCTGCATAGG	0.522												
BEST2	54831	broad.mit.edu	37	19	12866250	12866250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:12866250G>A	uc002mux.2	+	5	694	c.694G>A	c.(694-696)GTA>ATA	p.V232I		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	232					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CTGGATTAGCGTACCCCTCGT	0.507												
OR10H2	26538	broad.mit.edu	37	19	15839222	15839222	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:15839222C>T	uc002nbm.2	+	1	389	c.369C>T	c.(367-369)TAC>TAT	p.Y123Y		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACGACCGCTACGTGGCCATCT	0.647												
SSBP4	170463	broad.mit.edu	37	19	18538736	18538736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:18538736C>T	uc002niy.2	+	4	461	c.223C>T	c.(223-225)CCT>TCT	p.P75S	SSBP4_uc010ebp.2_Missense_Mutation_p.P75S|SSBP4_uc002niz.2_Missense_Mutation_p.P75S	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4 isoform a	75						nucleus	single-stranded DNA binding				0						CTGCGCGGCGCCTGACAGAAG	0.662												
ZNF492	57615	broad.mit.edu	37	19	22846716	22846716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:22846716G>A	uc002nqw.3	+	4	489	c.245G>A	c.(244-246)AGA>AAA	p.R82K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTACAGTTAAGAAAATACTGT	0.343												
ZNF492	57615	broad.mit.edu	37	19	22846743	22846743	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:22846743G>A	uc002nqw.3	+	4	516	c.272G>A	c.(271-273)TGT>TAT	p.C91Y		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGGATGAGTGTAAGGTGCAC	0.303												
WDR88	126248	broad.mit.edu	37	19	33647307	33647307	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:33647307C>T	uc002nui.2	+	7	934	c.856C>T	c.(856-858)CAT>TAT	p.H286Y		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	286	WD 5.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					CTTCAGTGGCCATTTCCTGTG	0.488												
MEIS3	56917	broad.mit.edu	37	19	47910682	47910682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:47910682G>A	uc002pgu.2	-	9	1309	c.862C>T	c.(862-864)CCG>TCG	p.P288S	MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Missense_Mutation_p.P87S|MEIS3_uc002pgp.2_Missense_Mutation_p.P120S|MEIS3_uc002pgq.2_Missense_Mutation_p.P369S|MEIS3_uc002pgr.2_Missense_Mutation_p.P156S|MEIS3_uc002pgt.2_Missense_Mutation_p.P271S|MEIS3_uc002pgv.2_Missense_Mutation_p.P317S|MEIS3_uc002pgs.2_Missense_Mutation_p.P334S|MEIS3_uc010eld.2_Missense_Mutation_p.P334S	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	288	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GAGGGGTACGGGTGCTGCAGC	0.627												
ZNF665	79788	broad.mit.edu	37	19	53678815	53678815	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:53678815T>G	uc010eqm.1	-	3	125	c.25A>C	c.(25-27)ACA>CCA	p.T9P		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	Error:Variant_position_missing_in_Q9H7R5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TCCTTGAATGTCAACTGTCCC	0.413												
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:56539808C>T	uc002qmj.2	+	7	2209	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W	NLRP5_uc002qmi.2_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	737	LRR 2.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498												
ZNF419	79744	broad.mit.edu	37	19	58004449	58004449	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr19:58004449T>C	uc002qov.2	+	5	764	c.524T>C	c.(523-525)CTC>CCC	p.L175P	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.L176P|ZNF419_uc010etz.1_Missense_Mutation_p.L163P|ZNF419_uc010eua.1_Missense_Mutation_p.L162P|ZNF419_uc002qow.2_Missense_Mutation_p.L143P|ZNF419_uc010eub.1_Missense_Mutation_p.L130P|ZNF419_uc010euc.1_Missense_Mutation_p.L129P	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCAGGTGTTCTCAAGCACCAG	0.502												
GREB1	9687	broad.mit.edu	37	2	11735458	11735458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:11735458C>T	uc002rbk.1	+	12	2078	c.1778C>T	c.(1777-1779)ACG>ATG	p.T593M	GREB1_uc002rbo.1_Missense_Mutation_p.T227M	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	593						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGCTGGTTACGGGGAAGGTA	0.408												
NCKAP5	344148	broad.mit.edu	37	2	133542728	133542728	+	Silent	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:133542728T>G	uc002ttp.2	-	14	2030	c.1656A>C	c.(1654-1656)CCA>CCC	p.P552P	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	552							protein binding				0						TCTGCACACTTGGGCACAGCT	0.552												
ZEB2	9839	broad.mit.edu	37	2	145147018	145147018	+	Nonstop_Mutation	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:145147018T>G	uc002tvu.2	-	10	4125	c.3645A>C	c.(3643-3645)TAA>TAC	p.*1215Y	ZEB2_uc002tvv.2_Nonstop_Mutation_p.*1209Y|ZEB2_uc010zbm.1_Nonstop_Mutation_p.*1186Y|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1215						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGTAGTTTATTACATGCCAT	0.418												
ZEB2	9839	broad.mit.edu	37	2	145156205	145156205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:145156205G>A	uc002tvu.2	-	8	3029	c.2549C>T	c.(2548-2550)TCT>TTT	p.S850F	ZEB2_uc002tvv.2_Missense_Mutation_p.S844F|ZEB2_uc010zbm.1_Missense_Mutation_p.S821F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S879F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	850						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGATGAGGAAGAAACACTGTT	0.343												
MYO1B	4430	broad.mit.edu	37	2	192227095	192227095	+	Missense_Mutation	SNP	C	C	T	rs139382265		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:192227095C>T	uc010fsg.2	+	9	1018	c.763C>T	c.(763-765)CGG>TGG	p.R255W	MYO1B_uc002usq.2_Missense_Mutation_p.R255W|MYO1B_uc002usr.2_Missense_Mutation_p.R255W|MYO1B_uc002uss.1_Missense_Mutation_p.R255W	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	255	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAGAACCGTGCGGGTAAGATG	0.423												
CASP10	843	broad.mit.edu	37	2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:202073970C>T	uc002uxl.1	+	9	1518	c.1100C>T	c.(1099-1101)TCG>TTG	p.S367L	CASP10_uc002uxj.1_Missense_Mutation_p.S367L|CASP10_uc002uxk.1_Missense_Mutation_p.S324L|CASP10_uc010fta.1_Missense_Mutation_p.S300L|CASP10_uc002uxm.1_Missense_Mutation_p.S324L|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	367					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						GTCTACTCTTCGGATGAGGCC	0.527												
CHRND	1144	broad.mit.edu	37	2	233396285	233396285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr2:233396285G>A	uc002vsw.2	+	9	970	c.966G>A	c.(964-966)ATG>ATA	p.M322I	CHRND_uc010zmg.1_Missense_Mutation_p.M307I|CHRND_uc010fyc.2_Missense_Mutation_p.M195I|CHRND_uc010zmh.1_Missense_Mutation_p.M128I	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	322	Helical; (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGGTCACCATGGTTGTGGTGA	0.557												
C20orf194	25943	broad.mit.edu	37	20	3245153	3245153	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:3245153A>C	uc002wii.2	-	31	2855	c.2804T>G	c.(2803-2805)CTG>CGG	p.L935R	C20orf194_uc002wij.3_Missense_Mutation_p.L674R|C20orf194_uc002wik.2_Missense_Mutation_p.L609R	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	935											0						TGAGAGAATCAGCTCAATGTC	0.294												
PROCR	10544	broad.mit.edu	37	20	33764014	33764014	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:33764014C>T	uc002xbt.2	+	3	550	c.366C>T	c.(364-366)CCC>CCT	p.P122P	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.P159P	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	122	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCTGCCTCCCGAGGGCTCTA	0.612												
GNAS	2778	broad.mit.edu	37	20	57478739	57478739	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:57478739G>A	uc002xzw.2	+	5	2539	c.2254G>A	c.(2254-2256)GCC>ACC	p.A752T	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.A50T|GNAS_uc002xzx.2_Missense_Mutation_p.A50T|GNAS_uc010gjr.2_5'UTR|GNAS_uc002xzy.2_Missense_Mutation_p.A35T|GNAS_uc002yaa.2_Missense_Mutation_p.A95T|GNAS_uc010zzt.1_Missense_Mutation_p.A110T|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_5'UTR|GNAS_uc002yae.2_Missense_Mutation_p.A34T	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	109					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATTGTGGCCGCCATGAGCAA	0.557			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
YTHDF1	54915	broad.mit.edu	37	20	61834910	61834910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr20:61834910C>T	uc002yeh.2	-	4	676	c.382G>A	c.(382-384)GCG>ACG	p.A128T	YTHDF1_uc011aaq.1_Missense_Mutation_p.A78T	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	128										ovary(2)	2						GCTGAGAACGCAGGGTTTTCA	0.567												
NEK10	152110	broad.mit.edu	37	3	27326407	27326407	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:27326407A>G	uc003cdt.1	-	22	2109	c.1835T>C	c.(1834-1836)CTT>CCT	p.L612P	NEK10_uc003cds.1_Missense_Mutation_p.L9P	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	612	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						ATGCTCTCCAAGCGGGGCTCC	0.328												
C3orf67	200844	broad.mit.edu	37	3	58849420	58849420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:58849420G>C	uc003dkt.1	-	12	1491	c.1082C>G	c.(1081-1083)TCA>TGA	p.S361*	C3orf67_uc003dks.1_Nonsense_Mutation_p.S176*|uc003dku.1_Intron|C3orf67_uc003dkv.1_Nonsense_Mutation_p.S176*|C3orf67_uc003dkw.2_Nonsense_Mutation_p.S256*	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	361											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATGAGGTGCTGATCGTGGTCT	0.468												
FBXO40	51725	broad.mit.edu	37	3	121345655	121345655	+	Silent	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:121345655T>G	uc003eeg.2	+	4	2238	c.2028T>G	c.(2026-2028)ACT>ACG	p.T676T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	676					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		AGCACAAAACTGACCCGATTC	0.493												
ILDR1	286676	broad.mit.edu	37	3	121725886	121725886	+	Missense_Mutation	SNP	G	G	A	rs148962924		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:121725886G>A	uc003ees.2	-	2	287	c.181C>T	c.(181-183)CGC>TGC	p.R61C	ILDR1_uc003eeq.2_Missense_Mutation_p.R73C|ILDR1_uc003eer.2_Missense_Mutation_p.R61C|ILDR1_uc010hrg.2_Missense_Mutation_p.R61C	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	61	Extracellular (Potential).|Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)		GACTTGAAGCGCCATGTCACC	0.547												
PARP15	165631	broad.mit.edu	37	3	122354929	122354929	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:122354929C>T	uc003efm.2	+	12	2085	c.2019C>T	c.(2017-2019)CTC>CTT	p.L673L	PARP15_uc003efn.2_Silent_p.L478L|PARP15_uc003efo.1_Silent_p.L420L|PARP15_uc003efp.1_Silent_p.L439L|PARP15_uc011bjt.1_Silent_p.L370L	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	651	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		CAGAATATCTCATAACTTTCA	0.358												
P2RY12	64805	broad.mit.edu	37	3	151056389	151056389	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:151056389A>C	uc003eyw.1	-	2	461	c.245T>G	c.(244-246)CTT>CGT	p.L82R	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Missense_Mutation_p.L82R|P2RY12_uc003eyx.1_Missense_Mutation_p.L82R	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	82	Extracellular (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GGCATCACTAAGAATTTTGAA	0.328												
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr3:178921553T>A	uc003fjk.2	+	5	1192	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(29)|p.N345I(2)|p.N345S(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
ADD1	118	broad.mit.edu	37	4	2896375	2896375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:2896375G>A	uc003gfr.2	+	6	846	c.658G>A	c.(658-660)GGC>AGC	p.G220S	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.G220S|ADD1_uc003gfo.2_Missense_Mutation_p.G220S|ADD1_uc003gfp.2_Missense_Mutation_p.G220S|ADD1_uc003gfq.2_Missense_Mutation_p.G220S|ADD1_uc003gfs.2_Missense_Mutation_p.G220S|ADD1_uc003gft.3_Missense_Mutation_p.G220S|ADD1_uc003gfu.2_5'UTR	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	220					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAATCAGGCCGGCTTCACCTT	0.473												
GABRA4	2557	broad.mit.edu	37	4	46967137	46967137	+	Silent	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:46967137A>C	uc003gxg.2	-	8	1123	c.984T>G	c.(982-984)GCT>GCG	p.A328A		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	328	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAATACAAAAGCAAAGCAGA	0.458												
ARHGAP24	83478	broad.mit.edu	37	4	86863361	86863361	+	Silent	SNP	C	C	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:86863361C>A	uc003hpk.2	+	5	983	c.534C>A	c.(532-534)GGC>GGA	p.G178G	ARHGAP24_uc003hpj.2_Silent_p.G178G|ARHGAP24_uc003hpl.2_Silent_p.G83G|ARHGAP24_uc010ikf.2_Silent_p.G93G|ARHGAP24_uc003hpm.2_Silent_p.G85G	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	178	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GACTGCCAGGCCAGGCTAATC	0.498												
FAT4	79633	broad.mit.edu	37	4	126372620	126372620	+	Silent	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr4:126372620T>G	uc003ifj.3	+	9	10449	c.10449T>G	c.(10447-10449)GTT>GTG	p.V3483V	FAT4_uc011cgp.1_Silent_p.V1781V|FAT4_uc003ifi.1_Silent_p.V961V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3483	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTTGGCTGTTGATTCAGGGA	0.458												
PDZD2	23037	broad.mit.edu	37	5	32048689	32048689	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:32048689A>C	uc003jhl.2	+	8	1952	c.1564A>C	c.(1564-1566)ATG>CTG	p.M522L	PDZD2_uc003jhm.2_Missense_Mutation_p.M522L|PDZD2_uc011cnx.1_Missense_Mutation_p.M348L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	522					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TAACGAGCTGATGGTGCGGAA	0.527												
SPEF2	79925	broad.mit.edu	37	5	35793298	35793298	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:35793298A>C	uc003jjo.2	+	32	4703	c.4592A>C	c.(4591-4593)GAG>GCG	p.E1531A	SPEF2_uc003jjp.1_Missense_Mutation_p.E1017A|SPEF2_uc003jjr.2_Missense_Mutation_p.E586A	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1531					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCAACTCCGAGTTCGTGGAC	0.433												
ELL2	22936	broad.mit.edu	37	5	95278735	95278735	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:95278735G>A	uc003klr.3	-	2	516	c.166C>T	c.(166-168)CCT>TCT	p.P56S		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	56					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGATTGAAGGTCGAAAAGGA	0.318												
LOX	4015	broad.mit.edu	37	5	121405747	121405747	+	Splice_Site	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:121405747C>T	uc003ksu.2	-	6	1622	c.1247_splice	c.e6+1	p.P416_splice	LOX_uc010jcp.2_Splice_Site_p.P119_splice|LOX_uc010jcq.2_Splice_Site_p.P119_splice|LOX_uc011cwk.1_Splice_Site_p.P186_splice|LOX_uc010jcr.2_Splice_Site_p.P119_splice	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein						protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		ATAACACTTACGGTGAAATTG	0.403												
SNCAIP	9627	broad.mit.edu	37	5	121785553	121785553	+	Missense_Mutation	SNP	C	C	T	rs143440334		TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:121785553C>T	uc003ksw.1	+	9	1812	c.1606C>T	c.(1606-1608)CGT>TGT	p.R536C	SNCAIP_uc011cwl.1_Missense_Mutation_p.R94C|SNCAIP_uc003ksx.1_Missense_Mutation_p.R583C|SNCAIP_uc003ksy.1_Missense_Mutation_p.R170C|SNCAIP_uc003ksz.1_Missense_Mutation_p.R170C|SNCAIP_uc010jcu.2_Missense_Mutation_p.R132C|SNCAIP_uc011cwm.1_Missense_Mutation_p.R170C|SNCAIP_uc003kta.1_Missense_Mutation_p.R168C|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.R230C|SNCAIP_uc010jcx.1_Missense_Mutation_p.R476C|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.R52C	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	536	Potential.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AACAGTAGAACGTGTCACGCT	0.413												
FBN2	2201	broad.mit.edu	37	5	127727788	127727788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:127727788C>T	uc003kuu.2	-	11	1965	c.1526G>A	c.(1525-1527)CGC>CAC	p.R509H	FBN2_uc003kuv.2_Missense_Mutation_p.R476H	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	509	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTATACAGCGTCCATTTAA	0.338												
PCDHGA11	56105	broad.mit.edu	37	5	140801462	140801462	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:140801462G>A	uc003lkq.1	+	1	926	c.668G>A	c.(667-669)CGA>CAA	p.R223Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R223Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R223Q	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	223	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCCATCCGAAAGGGCGCA	0.522												
PPP2R2B	5521	broad.mit.edu	37	5	146080690	146080690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr5:146080690G>A	uc003loe.2	-	2	611	c.86C>T	c.(85-87)ACG>ATG	p.T29M	PPP2R2B_uc010jgm.2_Missense_Mutation_p.T18M|PPP2R2B_uc003log.3_Missense_Mutation_p.T29M|PPP2R2B_uc003lof.3_Missense_Mutation_p.T29M|PPP2R2B_uc003loi.3_Missense_Mutation_p.T32M|PPP2R2B_uc003loh.3_Missense_Mutation_p.T29M|PPP2R2B_uc003loj.3_Missense_Mutation_p.T9M|PPP2R2B_uc003lok.3_Missense_Mutation_p.T18M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.T35M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.T87M	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	29	WD 1.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCTACCGTAGAGATAAT	0.418												
KIF6	221458	broad.mit.edu	37	6	39507802	39507802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr6:39507802G>A	uc003oot.2	-	13	1717	c.1622C>T	c.(1621-1623)TCC>TTC	p.S541F	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S332F|KIF6_uc011dua.1_Missense_Mutation_p.S541F|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	541					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GAGCAAACTGGATCTTTTCCC	0.443												
OPN5	221391	broad.mit.edu	37	6	47759622	47759622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr6:47759622C>T	uc003ozc.2	+	3	340	c.335C>T	c.(334-336)GCT>GTT	p.A112V	OPN5_uc003ozd.2_5'UTR	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	112	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						TATGGATGGGCTGGATTTTTC	0.483												
SEC63	11231	broad.mit.edu	37	6	108204347	108204347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr6:108204347C>T	uc003psc.3	-	17	1947	c.1678G>A	c.(1678-1680)GCT>ACT	p.A560T	SEC63_uc003psb.3_Missense_Mutation_p.A420T	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	560	Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTACTGCAGCTTCCTAAAAG	0.358												
MAGI2	9863	broad.mit.edu	37	7	77764359	77764359	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:77764359G>T	uc003ugx.2	-	17	3264	c.3010C>A	c.(3010-3012)CTT>ATT	p.L1004I	MAGI2_uc003ugy.2_Missense_Mutation_p.L990I|MAGI2_uc010ldx.1_Missense_Mutation_p.L597I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1004	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGATGCGAAGGGTGACACTA	0.572												
C7orf64	84060	broad.mit.edu	37	7	92164116	92164116	+	Silent	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:92164116G>A	uc003ulz.2	+	4	890	c.849G>A	c.(847-849)GAG>GAA	p.E283E	C7orf64_uc003uma.2_Silent_p.E283E	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	283							nucleotide binding			ovary(2)	2						AACTGCAGGAGCGCAAAAGAA	0.428												
MUC17	140453	broad.mit.edu	37	7	100679310	100679310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:100679310C>T	uc003uxp.1	+	3	4666	c.4613C>T	c.(4612-4614)CCT>CTT	p.P1538L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1538	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23.					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)					TCAACAACTCCTGCTGTCACC	0.473												
RELN	5649	broad.mit.edu	37	7	103338452	103338452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:103338452C>A	uc003vca.2	-	10	1151	c.991G>T	c.(991-993)GAA>TAA	p.E331*	RELN_uc010liz.2_Nonsense_Mutation_p.E331*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	331					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E331K(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGAAGATTTTCCTGCTTCCAC	0.448												
ACCN3	9311	broad.mit.edu	37	7	150746116	150746116	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:150746116C>T	uc003win.2	+	1	512	c.144C>T	c.(142-144)GCC>GCT	p.A48A	ACCN3_uc003wio.2_Silent_p.A48A|ACCN3_uc003wip.2_Silent_p.A48A|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	48	Helical; (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCAGCGGCCGTGGTCCTGT	0.667												
PRKAG2	51422	broad.mit.edu	37	7	151261254	151261254	+	Silent	SNP	A	A	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr7:151261254A>C	uc003wkk.2	-	14	2105	c.1494T>G	c.(1492-1494)CTT>CTG	p.L498L	PRKAG2_uc003wki.2_Silent_p.L257L|PRKAG2_uc011kvl.1_Silent_p.L373L|PRKAG2_uc003wkj.2_Silent_p.L454L|PRKAG2_uc003wkl.2_Silent_p.L46L	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	498					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AACGGTGCTGAAGGGCCTGGG	0.418												
C8orf79	57604	broad.mit.edu	37	8	12878836	12878836	+	Silent	SNP	C	C	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:12878836C>A	uc010lsq.2	+	5	1140	c.648C>A	c.(646-648)GGC>GGA	p.G216G	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.G129G|C8orf79_uc010lsr.2_Silent_p.G90G	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	216							methyltransferase activity				0						ACAGCGTGGGCTATGAACCTG	0.448												
CHRNA2	1135	broad.mit.edu	37	8	27320907	27320907	+	Silent	SNP	A	A	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:27320907A>G	uc010lur.2	-	6	1662	c.1053T>C	c.(1051-1053)AAT>AAC	p.N351N	CHRNA2_uc011lal.1_Silent_p.N336N|CHRNA2_uc010lus.2_Silent_p.N153N	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	351	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GGTGGTGCACATTGAGCACGA	0.647												
KCNU1	157855	broad.mit.edu	37	8	36780063	36780063	+	Silent	SNP	C	C	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:36780063C>G	uc010lvw.2	+	24	2739	c.2652C>G	c.(2650-2652)CTC>CTG	p.L884L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	884	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAGGGTCCCTCCAAGAAACAA	0.463												
CHD7	55636	broad.mit.edu	37	8	61655087	61655087	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:61655087C>T	uc003xue.2	+	2	1573	c.1096C>T	c.(1096-1098)CCC>TCC	p.P366S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	366					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCACCAGCAGCCCATCCACCC	0.483												
EYA1	2138	broad.mit.edu	37	8	72123487	72123487	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr8:72123487T>G	uc003xys.3	-	16	1889	c.1602A>C	c.(1600-1602)AAA>AAC	p.K534N	EYA1_uc003xyr.3_Missense_Mutation_p.K499N|EYA1_uc003xyt.3_Missense_Mutation_p.K501N|EYA1_uc010lzf.2_Missense_Mutation_p.K461N|EYA1_uc003xyu.2_Missense_Mutation_p.K534N|EYA1_uc011lfe.1_Missense_Mutation_p.K528N|EYA1_uc003xyv.2_Missense_Mutation_p.K412N	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	534					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AACAGCTTTCTTTTCCTAGTG	0.328												
VCX3A	51481	broad.mit.edu	37	X	6451795	6451795	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:6451795C>T	uc004crs.2	-	3	859	c.552G>A	c.(550-552)CCG>CCA	p.P184P	VCX3A_uc010ndk.1_Intron	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	184	Glu-rich.				brain development	nucleolus					0						TCTACACACTCGGTAGTTCTT	0.592												
CDKL5	6792	broad.mit.edu	37	X	18622032	18622032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:18622032G>A	uc004cym.2	+	12	1241	c.988G>A	c.(988-990)GGC>AGC	p.G330S	CDKL5_uc004cyn.2_Missense_Mutation_p.G330S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	330					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					AAACCAAGCCGGCAAAAGTAC	0.428												
PLP2	5355	broad.mit.edu	37	X	49029563	49029563	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:49029563A>G	uc004dmx.2	+	2	259	c.184A>G	c.(184-186)ATT>GTT	p.I62V		NM_002668	NP_002659	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic	62	Helical; (Potential).|MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity				0						CCTTGCTGCTATTTTCTTTGT	0.512												
KLHL4	56062	broad.mit.edu	37	X	86868966	86868966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:86868966G>A	uc004efb.2	+	2	691	c.509G>A	c.(508-510)CGT>CAT	p.R170H	KLHL4_uc004efa.2_Missense_Mutation_p.R170H	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	170						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAAACTCTTCGTAAAATGGAG	0.403												
GPRASP1	9737	broad.mit.edu	37	X	101911301	101911301	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:101911301G>C	uc004ejj.3	+	5	3261	c.2460G>C	c.(2458-2460)GAG>GAC	p.E820D	GPRASP1_uc004eji.3_Missense_Mutation_p.E820D|GPRASP1_uc010nod.2_Missense_Mutation_p.E820D	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	820	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CCAGAGAAGAGACCATTAGAA	0.502												
KLHL13	90293	broad.mit.edu	37	X	117054233	117054233	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:117054233G>C	uc004eql.2	-	3	403	c.341C>G	c.(340-342)TCT>TGT	p.S114C	KLHL13_uc004eqk.2_Missense_Mutation_p.S63C|KLHL13_uc011mtn.1_Translation_Start_Site|KLHL13_uc011mto.1_Missense_Mutation_p.S108C|KLHL13_uc011mtp.1_Missense_Mutation_p.S116C|KLHL13_uc004eqm.2_Missense_Mutation_p.S63C|KLHL13_uc011mtq.1_Missense_Mutation_p.S98C	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	114	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						ATCACTAGCAGATGCCATCAT	0.403												
KIAA1210	57481	broad.mit.edu	37	X	118221164	118221164	+	Silent	SNP	C	C	T			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chrX:118221164C>T	uc004era.3	-	11	4029	c.4029G>A	c.(4027-4029)CAG>CAA	p.Q1343Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1343										ovary(4)|skin(1)	5						ACATCTGTGGCTGGAATTTAG	0.483												
PTEN	5728	broad.mit.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr10:89720799_89720802delTACT	uc001kfb.2	+	9	1981_1984	c.950_953delTACT	c.(949-954)GTACTTfs	p.V317fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317_318	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
RILPL1	353116	broad.mit.edu	37	12	124017726	124017726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr12:124017726delG	uc001ufe.2	-	1	540	c.304delC	c.(304-306)CAGfs	p.Q102fs	RILPL1_uc010tas.1_Frame_Shift_Del_p.Q102fs	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	102	Potential.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCCACCTTCTGGTGCTTGCGC	0.711												
PODN	127435	broad.mit.edu	37	1	53543383	53543383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr1:53543382_53543382CG>C	uc001cuv.3	+	6	1076	c.908_908CG>C	c.(907-909)ccgfs	p.P303fs	PODN_uc010onr.2_Frame_Shift_Del_p.P284fs|PODN_uc010ons.2_Frame_Shift_Del_p.P161fs|PODN_uc001cuw.3_Frame_Shift_Del_p.P284fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	255					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATCCCCCCGGGGGCCTTC	0.612												
EDNRB	1910	broad.mit.edu	37	13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4253-01A-01D-1126-08	TCGA-BR-4253-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93af2a8c-8e75-4932-af5a-cb52af187daf	bf99df84-f84a-456a-b59a-04b2aeb1bd1d	g.chr13:78475266_78475266TA>T	uc001vkp.1	-	4	1301	c.1148_1148TA>A	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	293			P -> L (in HSCR2; familial).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.N382I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATTAGTGTATAAAAAAATGC	0.338