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
ACTRT2	140625	broad.mit.edu	37	1	2938675	2938675	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:2938675C>A	uc001ajz.2	+	1	630	c.425C>A	c.(424-426)GCG>GAG	p.A142E		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	142						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCGGACCAGGCGGTGCTGGCT	0.622000												
CHD5	26038	broad.mit.edu	37	1	6189111	6189111	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:6189111G>A	uc001amb.1	-	23	3506	c.3406C>T	c.(3406-3408)CGC>TGC	p.R1136C	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1136	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCCGATGCGGTGGGCGCGG	0.632000												
DHRS3	9249	broad.mit.edu	37	1	12638806	12638806	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:12638806C>T	uc001auc.2	-	4	1105	c.638G>A	c.(637-639)AGC>AAC	p.S213N	DHRS3_uc001aub.2_Missense_Mutation_p.S128N	NM_004753	NP_004744	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	213	Helical; (Potential).				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			skin(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGTGGTGGCGCTGACTCCCGG	0.617000												
EPHA8	2046	broad.mit.edu	37	1	22922618	22922618	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:22922618G>A	uc001bfx.1	+	9	1842	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	573	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTACAGCAAGGCCTTCCAGGA	0.662000												
BAI2	576	broad.mit.edu	37	1	32207043	32207043	+	Silent	SNP	G	G	A	rs149204497		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:32207043G>A	uc001btn.2	-	11	2079	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	BAI2_uc010ogo.1_Silent_p.G217G|BAI2_uc010ogp.1_Silent_p.G508G|BAI2_uc010ogq.1_Silent_p.G575G|BAI2_uc001bto.2_Silent_p.G575G|BAI2_uc001btq.1_Silent_p.G508G|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	575	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G575G(1)		lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTACGCCACGCCTTGGGCAC	0.647000												
TIPRL	261726	broad.mit.edu	37	1	168153206	168153206	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:168153206C>G	uc001gfg.2	+	2	316	c.171C>G	c.(169-171)ATC>ATG	p.I57M	TIPRL_uc001gfh.2_Missense_Mutation_p.I57M|TIPRL_uc001gff.2_Missense_Mutation_p.I57M	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like	57					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					TTTTAAGAATCCAGCATGGGT	0.403000												
KCNT2	343450	broad.mit.edu	37	1	196398783	196398783	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:196398783A>G	uc001gtd.1	-	9	803	c.743T>C	c.(742-744)GTC>GCC	p.V248A	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.V248A|KCNT2_uc001gtf.1_Missense_Mutation_p.V248A|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.V248A|KCNT2_uc009wyv.1_Missense_Mutation_p.V223A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	248						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTCAGGAGTGACATCCCCGAA	0.423000												
CFHR4	10877	broad.mit.edu	37	1	196887428	196887428	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:196887428G>A	uc001gto.2	+	6	957	c.888G>A	c.(886-888)GGG>GGA	p.G296G	CFHR4_uc009wyy.2_Silent_p.G542G|CFHR4_uc001gtp.2_Silent_p.G543G	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	296	Sushi 5.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						CAAAAACAGGGGATACCATTG	0.318000												
PTPRC	5788	broad.mit.edu	37	1	198703498	198703498	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:198703498T>C	uc001gur.1	+	22	2395	c.2215T>C	c.(2215-2217)TGG>CGG	p.W739R	PTPRC_uc001gus.1_Missense_Mutation_p.W691R|PTPRC_uc001gut.1_Missense_Mutation_p.W578R|PTPRC_uc010ppg.1_Missense_Mutation_p.W675R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	739	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAGGATGATTTGGGAACAGAA	0.383000												
ARHGAP21	57584	broad.mit.edu	37	10	24874724	24874724	+	Silent	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr10:24874724C>T	uc001isb.2	-	26	4981	c.4494G>A	c.(4492-4494)ACG>ACA	p.T1498T	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1497					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						CTTCAGAAGGCGTGCTCTCTT	0.468000												
CNNM2	54805	broad.mit.edu	37	10	104809484	104809484	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr10:104809484G>A	uc001kwm.2	+	2	1766	c.1642G>A	c.(1642-1644)GTG>ATG	p.V548M	CNNM2_uc001kwn.2_Missense_Mutation_p.V548M	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	548	CBS 2.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGGCTATCGTGCAGCGGGT	0.373000												
ADD3	120	broad.mit.edu	37	10	111860438	111860438	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr10:111860438G>A	uc001kyt.3	+	3	341	c.27G>A	c.(25-27)GTG>GTA	p.V9V	ADD3_uc001kys.3_Silent_p.V9V|ADD3_uc001kyu.2_Silent_p.V9V|ADD3_uc001kyv.2_Silent_p.V9V|ADD3_uc001kyw.2_Silent_p.V9V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	9						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCCAAGGCGTGATTACCACTC	0.413000												
OR51D1	390038	broad.mit.edu	37	11	4661733	4661733	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:4661733T>C	uc010qyk.1	+	1	713	c.713T>C	c.(712-714)GTT>GCT	p.V238A		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	238	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGGGCTGTTTTGGAGCTG	0.512000												
GALNTL4	374378	broad.mit.edu	37	11	11400736	11400736	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:11400736C>T	uc001mjo.2	-	4	1092	c.671G>A	c.(670-672)CGT>CAT	p.R224H		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	224	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CTTGCTGTGACGCACGACTTT	0.562000												
MUC15	143662	broad.mit.edu	37	11	26586967	26586967	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:26586967C>T	uc001mqx.2	-	2	705	c.439G>A	c.(439-441)GAA>AAA	p.E147K	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.E174K|MUC15_uc001mqy.2_Missense_Mutation_p.E174K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	147	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTGAAGTTTTCTGAAGACAGA	0.433000												
KCNA4	3739	broad.mit.edu	37	11	30033281	30033281	+	Silent	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:30033281C>T	uc001msk.2	-	2	2097	c.945G>A	c.(943-945)CTG>CTA	p.L315L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	315	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTAAGATGACCAGGACGGACA	0.517000												
GDPD4	220032	broad.mit.edu	37	11	76956374	76956374	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:76956374G>A	uc001oyf.2	-	11	1289	c.1038C>T	c.(1036-1038)GTC>GTT	p.V346V		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	346	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						CTACTTGGCGGACAAATGTGT	0.428000												
A2M	2	broad.mit.edu	37	12	9222365	9222365	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr12:9222365G>T	uc001qvk.1	-	33	4352	c.4239C>A	c.(4237-4239)AAC>AAA	p.N1413K	A2M_uc001qvj.1_Missense_Mutation_p.N455K|A2M_uc009zgk.1_Missense_Mutation_p.N1263K	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1413					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TCAAGACATGGTTGCTGCTGA	0.383000												
TMTC2	160335	broad.mit.edu	37	12	83526052	83526052	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr12:83526052G>A	uc001szt.2	+	12	2827	c.2395G>A	c.(2395-2397)GAG>AAG	p.E799K	TMTC2_uc010suk.1_Missense_Mutation_p.E554K	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	799	TPR 10.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CCAGAAGGCCGAGGCCAACTA	0.512000												
RNASE4	6038	broad.mit.edu	37	14	21167713	21167713	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:21167713G>A	uc001vxy.3	+	2	746	c.183G>A	c.(181-183)AAG>AAA	p.K61K	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Silent_p.K61K	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	61					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAAGACGGAAGATGACTTTGT	0.498000												
HECTD1	25831	broad.mit.edu	37	14	31598579	31598579	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:31598579T>C	uc001wrc.1	-	25	4487	c.3998A>G	c.(3997-3999)AAG>AGG	p.K1333R	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1333	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGTGCAAGCTTGAGGTCAAA	0.507000												
FSCB	84075	broad.mit.edu	37	14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	rs139581441	byFrequency	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:44975349G>A	uc001wvn.2	-	1	1151	c.842C>T	c.(841-843)GCG>GTG	p.A281V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TCTGGGCTCCGCTTTAGCAGT	0.483000												
SIPA1L1	26037	broad.mit.edu	37	14	72152300	72152300	+	Missense_Mutation	SNP	C	C	A	rs144712845		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:72152300C>A	uc001xms.2	+	10	3674	c.3326C>A	c.(3325-3327)GCC>GAC	p.A1109D	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1109D|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1109D|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1109D|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A584D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1109					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAGAGCCGCCAACATCCCT	0.557000												
CDC42BPB	9578	broad.mit.edu	37	14	103434850	103434850	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:103434850G>A	uc001ymi.1	-	15	2431	c.2199C>T	c.(2197-2199)ATC>ATT	p.I733I		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	733	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAACATCAAGATTTCTTTCT	0.438000												
ATP10A	57194	broad.mit.edu	37	15	25963546	25963546	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr15:25963546G>A	uc010ayu.2	-	8	1470	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	455	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGACGCTGCGCTGCGGGGAG	0.662000												
SGK269	79834	broad.mit.edu	37	15	77473569	77473569	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr15:77473569C>T	uc002bcm.2	-	3	1008	c.700G>A	c.(700-702)GAG>AAG	p.E234K	SGK269_uc002bcn.2_Missense_Mutation_p.E234K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	234					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TCACTCTCCTCGCCACTGGAA	0.488000												
SSTR5	6755	broad.mit.edu	37	16	1129842	1129842	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr16:1129842C>T	uc002ckq.2	+	1	1062	c.974C>T	c.(973-975)TCT>TTT	p.S325F	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	325	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCAAGGGCTCTGGTGCCAAG	0.667000												
MKL2	57496	broad.mit.edu	37	16	14345840	14345840	+	Missense_Mutation	SNP	C	C	T	rs147357478		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr16:14345840C>T	uc010uza.1	+	14	2680	c.2525C>T	c.(2524-2526)CCG>CTG	p.P842L	MKL2_uc002dcg.2_Missense_Mutation_p.P792L|MKL2_uc002dcj.2_Missense_Mutation_p.P87L	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	831					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						AGAAATGCTCCGCTTCCATCC	0.488000												
SMG1	23049	broad.mit.edu	37	16	18828719	18828719	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr16:18828719T>C	uc002dfm.2	-	57	10331	c.9968A>G	c.(9967-9969)GAT>GGT	p.D3323G	SMG1_uc010bwb.2_Missense_Mutation_p.D3183G|SMG1_uc010bwa.2_Missense_Mutation_p.D2054G	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3323					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TAACGCCGCATCCAGGTTTAA	0.398000												
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:7578556T>C	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.?(14)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		AGGGGAGTACTGTAGGAAGAG	0.552000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CHD3	1107	broad.mit.edu	37	17	7797156	7797156	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:7797156G>A	uc002gje.2	+	6	977	c.827G>A	c.(826-828)CGA>CAA	p.R276Q	CHD3_uc002gjd.2_Missense_Mutation_p.R335Q|CHD3_uc002gjf.2_Missense_Mutation_p.R276Q|CHD3_uc002gjg.1_Missense_Mutation_p.R108Q	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	276					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				AAGAGCCCCCGAGTGCCTGAT	0.527000												
SSH2	85464	broad.mit.edu	37	17	27958032	27958032	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:27958032T>G	uc002heo.1	-	15	4099	c.4099A>C	c.(4099-4101)AGT>CGT	p.S1367R	SSH2_uc010wbh.1_Missense_Mutation_p.S1394R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1367					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CCTTCAGAACTAGTCAATTCA	0.577000												
KCNJ2	3759	broad.mit.edu	37	17	68171975	68171975	+	Silent	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:68171975C>T	uc010dfg.2	+	2	1196	c.795C>T	c.(793-795)TCC>TCT	p.S265S	KCNJ2_uc002jir.2_Silent_p.S265S	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	265	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					TTCTGGTGTCCCCAATCACTA	0.393000												
CASKIN2	57513	broad.mit.edu	37	17	73499201	73499201	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:73499201C>G	uc002joc.2	-	18	2504	c.1954G>C	c.(1954-1956)GAG>CAG	p.E652Q	CASKIN2_uc010wsc.1_Missense_Mutation_p.E570Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	652						cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTCCGTTCTCCAGTCCCTCG	0.711000												
FAM38B	63895	broad.mit.edu	37	18	10681657	10681657	+	Splice_Site	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr18:10681657C>T	uc002kor.3	-	9	1451	c.1311_splice	c.e9+1	p.T437_splice	FAM38B_uc002koq.2_Splice_Site_p.T272_splice	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B							integral to membrane	ion channel activity			ovary(1)	1						GATTTACTTACGGTGTCCCTA	0.418000												
MC5R	4161	broad.mit.edu	37	18	13825858	13825858	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr18:13825858C>A	uc010xaf.1	+	1	94	c.94C>A	c.(94-96)CCA>ACA	p.P32T		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	32	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						CAAGTCTTCACCATGTGAAGA	0.468000												
KIAA1632	57724	broad.mit.edu	37	18	43510778	43510778	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr18:43510778T>A	uc002lbm.2	-	12	2376	c.2276A>T	c.(2275-2277)AAC>ATC	p.N759I	KIAA1632_uc002lbo.1_Missense_Mutation_p.N759I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	759					autophagy						0						CTTCTCAAAGTTGGTAAAATG	0.368000												
MAP2K7	5609	broad.mit.edu	37	19	7977035	7977035	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:7977035C>T	uc002mit.2	+	10	1146	c.1081C>T	c.(1081-1083)CTT>TTT	p.L361F	MAP2K7_uc002miv.2_Missense_Mutation_p.L368F|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.L368F|MAP2K7_uc010dvv.2_Missense_Mutation_p.L236F	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	361	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	TTGCTCTAGCCTTACTAAAGA	0.607000												
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:35836516C>T	uc010edt.2	+	12	2297	c.2220C>T	c.(2218-2220)GCC>GCT	p.A740A	CD22_uc010xst.1_Silent_p.A568A|CD22_uc010edu.2_Silent_p.A652A|CD22_uc010edv.2_Intron|CD22_uc002nzb.3_Silent_p.A563A|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	740	Cytoplasmic (Potential).				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000												
RYR1	6261	broad.mit.edu	37	19	38976765	38976765	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:38976765C>A	uc002oit.2	+	34	5600	c.5470C>A	c.(5470-5472)CAG>AAG	p.Q1824K	RYR1_uc002oiu.2_Missense_Mutation_p.Q1824K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1824	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGACGGTGGGCAGCACGCTCG	0.697000												
LILRA5	353514	broad.mit.edu	37	19	54818815	54818815	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:54818815G>A	uc002qfe.2	-	7	903	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y	LILRA5_uc002qff.2_Silent_p.Y249Y	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	261	Extracellular (Potential).				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTACTGCGTAATCCTGAA	0.567000												
ZNF264	9422	broad.mit.edu	37	19	57724120	57724120	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:57724120C>T	uc002qob.2	+	4	2068	c.1655C>T	c.(1654-1656)TCG>TTG	p.S552L		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	552	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGTCGCAGCTCGTCCCTCACT	0.463000												
TPO	7173	broad.mit.edu	37	2	1437238	1437238	+	Missense_Mutation	SNP	C	C	A	rs17855780	byFrequency	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:1437238C>A	uc002qww.2	+	4	299	c.208C>A	c.(208-210)CCA>ACA	p.P70T	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.P70T|TPO_uc002qwu.2_Missense_Mutation_p.P70T|TPO_uc002qwr.2_Missense_Mutation_p.P70T|TPO_uc002qwx.2_Missense_Mutation_p.P70T|TPO_uc010yio.1_Missense_Mutation_p.P70T|TPO_uc010yip.1_Missense_Mutation_p.P70T	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	70	Extracellular (Potential).			P -> G (in Ref. 5; AAA61217).	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AATCCTTTCTCCAGCTCAGCT	0.368000												
BIRC6	57448	broad.mit.edu	37	2	32715111	32715111	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:32715111C>G	uc010ezu.2	+	43	8233	c.8099C>G	c.(8098-8100)TCA>TGA	p.S2700*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2700					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCATAGCATCAATAACTAGC	0.348000												
CCDC75	253635	broad.mit.edu	37	2	37321291	37321291	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:37321291G>A	uc010ezz.2	+	7	740	c.595G>A	c.(595-597)GAA>AAA	p.E199K	CCDC75_uc002rpr.3_Missense_Mutation_p.E96K	NM_174931	NP_777591	Q8N954	CCD75_HUMAN	coiled-coil domain containing 75	199						intracellular	nucleic acid binding				0		all_hematologic(82;0.21)				agaagatgaagaagaaaaaga	0.234000												
SIX3	6496	broad.mit.edu	37	2	45170028	45170028	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:45170028G>A	uc002run.1	+	1	992	c.785G>A	c.(784-786)CGC>CAC	p.R262H		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	262	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGCGCGACCGCGCCGCGGCG	0.677000												
MEIS1	4211	broad.mit.edu	37	2	66739342	66739342	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:66739342G>A	uc002sdu.2	+	8	1261	c.804G>A	c.(802-804)AAG>AAA	p.K268K	MEIS1_uc002sdt.2_Silent_p.K268K|MEIS1_uc002sdv.2_Silent_p.K266K|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Silent_p.K203K|MEIS1_uc002sdw.1_Silent_p.K124K	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	268	Asp/Glu-rich (acidic).|Poly-Asp.						sequence-specific DNA binding transcription factor activity				0						ACCCTGATAAGGACAAAAAGC	0.458000												
SUCLG1	8802	broad.mit.edu	37	2	84670454	84670454	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:84670454C>T	uc002son.2	-	3	465	c.272G>A	c.(271-273)GGA>GAA	p.G91E	SUCLG1_uc010ysk.1_Missense_Mutation_p.G78E	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	91					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	TGTCTGGCCTCCTTTCCCTGG	0.498000												
ELMOD3	84173	broad.mit.edu	37	2	85598245	85598245	+	Missense_Mutation	SNP	G	G	A	rs145555897	byFrequency	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:85598245G>A	uc002spf.3	+	10	1062	c.397G>A	c.(397-399)GCC>ACC	p.A133T	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Missense_Mutation_p.A133T|ELMOD3_uc002sph.3_Missense_Mutation_p.A133T|ELMOD3_uc010ysn.1_Missense_Mutation_p.A133T|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	133					phagocytosis	cytoskeleton				ovary(2)	2						GACTGGGCTCGCCGCCCTCCG	0.542000												
CNGA3	1261	broad.mit.edu	37	2	99008435	99008435	+	Splice_Site	SNP	T	T	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:99008435T>A	uc002syt.2	+	7	1090	c.673_splice	c.e7+2	p.G225_splice	CNGA3_uc002syu.2_Splice_Site_p.G207_splice|CNGA3_uc010fij.2_Splice_Site_p.G229_splice	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform						signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CTCGGACAGGTGAGTGTGCCC	0.597000												
GPR55	9290	broad.mit.edu	37	2	231775023	231775023	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:231775023C>A	uc002vrg.2	-	2	848	c.655G>T	c.(655-657)GTG>TTG	p.V219L	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.V219L	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	219	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TTCTGCTGCACCCAGTCCTGG	0.612000												
MKKS	8195	broad.mit.edu	37	20	10389282	10389282	+	Silent	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr20:10389282C>T	uc002wnt.1	-	4	2042	c.1155G>A	c.(1153-1155)GAG>GAA	p.E385E	MKKS_uc002wnu.1_Silent_p.E385E|MKKS_uc010zrd.1_RNA	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	385					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						CTACCTTCAGCTCATCCCAGG	0.393000									Bardet-Biedl_syndrome			
ZSWIM3	140831	broad.mit.edu	37	20	44506535	44506535	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr20:44506535G>A	uc002xqd.2	+	2	1541	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P	ZSWIM3_uc010zxg.1_Silent_p.P440P	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	446							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GAGCTCGGCCGGCAAGCATGC	0.507000												
SYNJ1	8867	broad.mit.edu	37	21	34042633	34042633	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr21:34042633C>T	uc002yqh.2	-	15	1893	c.1893G>A	c.(1891-1893)ATG>ATA	p.M631I	SYNJ1_uc011ads.1_Missense_Mutation_p.M587I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M592I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M587I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M631I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	592	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TCAATTCTACCATTTCTTCAA	0.343000												
TTC3	7267	broad.mit.edu	37	21	38494156	38494156	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr21:38494156G>A	uc002yvz.2	+	12	1045	c.940G>A	c.(940-942)GAA>AAA	p.E314K	TTC3_uc011aee.1_Missense_Mutation_p.E4K|TTC3_uc002ywa.2_Missense_Mutation_p.E314K|TTC3_uc002ywb.2_Missense_Mutation_p.E314K|TTC3_uc010gnf.2_Missense_Mutation_p.E79K|TTC3_uc002ywc.2_Missense_Mutation_p.E4K|TTC3_uc011aed.1_Missense_Mutation_p.E4K|TTC3_uc010gne.1_Missense_Mutation_p.E314K	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	314					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TATGCTGGGGGAATATGACTG	0.353000												
RFPL2	10739	broad.mit.edu	37	22	32587233	32587233	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr22:32587233G>A	uc003amg.3	-	5	1599	c.663C>T	c.(661-663)GCC>GCT	p.A221A	RFPL2_uc003ame.3_Silent_p.A160A|RFPL2_uc003amf.3_Silent_p.A131A|RFPL2_uc003amh.3_Silent_p.A131A	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	221	B30.2/SPRY.						zinc ion binding			skin(1)	1						CAAATCTCTCGGCAAGGTCTT	0.577000												
TNRC6B	23112	broad.mit.edu	37	22	40711358	40711358	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr22:40711358A>G	uc011aor.1	+	20	4961	c.4750A>G	c.(4750-4752)AAG>GAG	p.K1584E	TNRC6B_uc003aym.2_Missense_Mutation_p.K780E|TNRC6B_uc003ayn.3_Missense_Mutation_p.K1474E|TNRC6B_uc003ayo.2_Missense_Mutation_p.K1331E	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1584					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TCTCTCCAACAAGATGTGGAA	0.493000												
ATXN10	25814	broad.mit.edu	37	22	46125373	46125373	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr22:46125373C>G	uc003bgm.1	+	7	1054	c.797C>G	c.(796-798)CCT>CGT	p.P266R	ATXN10_uc011aqt.1_Missense_Mutation_p.P202R|ATXN10_uc003bgn.1_Missense_Mutation_p.P77R	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	266					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GATGACATCCCTGTGTTTTTG	0.458000												
ITPR1	3708	broad.mit.edu	37	3	4744539	4744539	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:4744539T>C	uc003bqa.2	+	36	4883	c.4535T>C	c.(4534-4536)CTG>CCG	p.L1512P	ITPR1_uc010hca.1_Missense_Mutation_p.L1497P|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.L443P	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1521	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTTGTGCAACTGCTGCAAGGC	0.478000												
PTH1R	5745	broad.mit.edu	37	3	46937225	46937225	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:46937225C>G	uc003cqm.2	+	5	382	c.179C>G	c.(178-180)GCC>GGC	p.A60G	PTH1R_uc003cqn.2_Missense_Mutation_p.A60G	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	60	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GTTTCTCCAGCCAGCATAATG	0.428000									Ollier_disease_/_Maffuci_syndrome		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTH1R	5745	broad.mit.edu	37	3	46937234	46937234	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:46937234T>G	uc003cqm.2	+	5	391	c.188T>G	c.(187-189)ATG>AGG	p.M63R	PTH1R_uc003cqn.2_Missense_Mutation_p.M63R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	63	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GCCAGCATAATGGAATCAGAC	0.453000									Ollier_disease_/_Maffuci_syndrome		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ALCAM	214	broad.mit.edu	37	3	105266363	105266363	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:105266363A>G	uc003dvx.2	+	11	1910	c.1370A>G	c.(1369-1371)AAC>AGC	p.N457S	ALCAM_uc003dvw.1_Missense_Mutation_p.N457S|ALCAM_uc003dvy.2_Missense_Mutation_p.N457S|ALCAM_uc010hpp.2_Missense_Mutation_p.N179S|ALCAM_uc003dvz.2_Missense_Mutation_p.N91S	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	457	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						AGCGTCATAAACCAAGCAAGT	0.408000												
ARHGAP31	57514	broad.mit.edu	37	3	119118073	119118073	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:119118073A>T	uc003ecj.3	+	9	1566	c.1034A>T	c.(1033-1035)AAA>ATA	p.K345I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	345					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CGACCAGCTAAAAGCATGGAC	0.393000												
DZIP1L	199221	broad.mit.edu	37	3	137822729	137822729	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:137822729G>A	uc003erq.2	-	2	448	c.85C>T	c.(85-87)CGC>TGC	p.R29C	DZIP1L_uc003err.1_Missense_Mutation_p.R29C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	29						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CTATCATGGCGAGGCTGAAAC	0.602000												
ZNF595	152687	broad.mit.edu	37	4	87098	87098	+	Silent	SNP	A	A	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:87098A>G	uc003fzv.1	+	6	1860	c.1704A>G	c.(1702-1704)GAA>GAG	p.E568E	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Silent_p.E336E|ZNF595_uc011but.1_Silent_p.E336E	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	568					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AATGCAAAGAATGTGGCAAAG	0.393000												
SLIT2	9353	broad.mit.edu	37	4	20530620	20530620	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:20530620T>A	uc003gpr.1	+	16	1715	c.1511T>A	c.(1510-1512)CTG>CAG	p.L504Q	SLIT2_uc003gps.1_Missense_Mutation_p.L496Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	504	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						TTTGCGGATCTGGCTTGCCCT	0.408000												
YTHDC1	91746	broad.mit.edu	37	4	69179894	69179894	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:69179894G>A	uc003hdx.2	-	17	2460	c.2107C>T	c.(2107-2109)CGT>TGT	p.R703C	YTHDC1_uc003hdy.2_Missense_Mutation_p.R685C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	703	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						tctctatcacgtcctctatct	0.199000												
ACSL1	2180	broad.mit.edu	37	4	185689562	185689562	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:185689562C>G	uc003iww.2	-	12	1330	c.1036G>C	c.(1036-1038)GGA>CGA	p.G346R	ACSL1_uc011ckm.1_Missense_Mutation_p.G175R|ACSL1_uc003iwt.1_Missense_Mutation_p.G346R|ACSL1_uc003iwu.1_Missense_Mutation_p.G346R|ACSL1_uc011ckn.1_Missense_Mutation_p.G312R|ACSL1_uc003iwv.1_Missense_Mutation_p.G346R|ACSL1_uc003iws.1_5'Flank|ACSL1_uc010ise.1_RNA	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	346	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGATATCTCCTTGGAAAAAT	0.453000												
ADCY2	108	broad.mit.edu	37	5	7521010	7521010	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:7521010C>A	uc003jdz.1	+	3	635	c.568C>A	c.(568-570)CAG>AAG	p.Q190K		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	190	Helical; (Potential).			VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CCTGGTCTGGCAGGTGGGTGC	0.602000												
ACOT12	134526	broad.mit.edu	37	5	80641711	80641711	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:80641711G>T	uc003khl.3	-	7	821	c.766C>A	c.(766-768)CAG>AAG	p.Q256K	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	256	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TACCAGGTCTGAAATGTATTG	0.413000												
PCDHGA6	56109	broad.mit.edu	37	5	140755889	140755889	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:140755889C>T	uc003ljy.1	+	1	2239	c.2239C>T	c.(2239-2241)CGG>TGG	p.R747W	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_uc011dau.1_Missense_Mutation_p.R747W	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	747	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGGGGTTCGGGCTTTCCT	0.597000												
ZNF300	91975	broad.mit.edu	37	5	150275535	150275535	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:150275535G>A	uc003lsy.1	-	6	1533	c.1266C>T	c.(1264-1266)TCC>TCT	p.S422S	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	422	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATGAGGTGGGACTTCTCAC	0.448000												
ZNF323	64288	broad.mit.edu	37	6	28294157	28294157	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:28294157G>A	uc003nla.2	-	4	1407	c.1007C>T	c.(1006-1008)TCA>TTA	p.S336L	ZNF323_uc003nld.2_Missense_Mutation_p.S336L|ZNF323_uc010jra.2_Missense_Mutation_p.S336L|ZNF323_uc003nlb.2_Missense_Mutation_p.S177L|ZNF323_uc010jrb.2_Missense_Mutation_p.S177L|ZNF323_uc003nlc.2_Missense_Mutation_p.S336L	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	336	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AACAAGGCATGAGCTGAGGAG	0.502000												
OR11A1	26531	broad.mit.edu	37	6	29394891	29394891	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:29394891G>T	uc003nmg.2	-	1	619	c.528C>A	c.(526-528)GAC>GAA	p.D176E		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGTAAAACTGGTCAATGTGGT	0.547000												
HLA-F	3134	broad.mit.edu	37	6	29692871	29692871	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:29692871G>T	uc010jrl.2	+	4	798	c.674G>T	c.(673-675)TGG>TTG	p.W225L	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.W225L|HLA-F_uc011dlx.1_Missense_Mutation_p.W225L|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	225	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CTGAGGTGCTGGGCCCTGGGC	0.607000												
HLA-A	3105	broad.mit.edu	37	6	29911302	29911302	+	Missense_Mutation	SNP	G	G	A	rs41546018		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:29911302G>A	uc003nol.2	+	3	601	c.601G>A	c.(601-603)GAG>AAG	p.E201K	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.E80K|HLA-A_uc003nok.2_Missense_Mutation_p.E80K|HLA-A_uc003non.2_Missense_Mutation_p.E201K|HLA-A_uc003noo.2_Missense_Mutation_p.E201K|HLA-A_uc010jrr.2_Missense_Mutation_p.E201K|HLA-A_uc003nom.2_Missense_Mutation_p.E80K|HLA-A_uc010klp.2_Missense_Mutation_p.E173K|HLA-A_uc011dmc.1_Missense_Mutation_p.E80K|HLA-A_uc011dmd.1_Missense_Mutation_p.E80K	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	201	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAACGGGAAGGAGACGCTGCA	0.662000									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)		
PKHD1	5314	broad.mit.edu	37	6	51907736	51907736	+	Silent	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:51907736G>A	uc003pah.1	-	27	3294	c.3018C>T	c.(3016-3018)ATC>ATT	p.I1006I	PKHD1_uc003pai.2_Silent_p.I1006I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1006	IPT/TIG 4.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGTGGCACTGATGGCAAGAC	0.478000												
NMBR	4829	broad.mit.edu	37	6	142409812	142409812	+	Translation_Start_Site	SNP	G	G	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:142409812G>T	uc003qiu.2	-	1	125	c.-16C>A	c.(-18--14)CTCTG>CTATG			NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTTTCCAGCAGAGTCCGCTGG	0.577000												
GRM1	2911	broad.mit.edu	37	6	146678789	146678789	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:146678789C>T	uc010khw.1	+	6	2031	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	GRM1_uc010khv.1_Missense_Mutation_p.R521W|GRM1_uc003qll.2_Missense_Mutation_p.R521W|GRM1_uc011edz.1_Missense_Mutation_p.R521W|GRM1_uc011eea.1_Missense_Mutation_p.R521W	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	521	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGAGTGGTGCGGTCTGTGTG	0.468000												
SYNE1	23345	broad.mit.edu	37	6	152652266	152652266	+	Silent	SNP	G	G	A	rs115535983	by1000genomes	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:152652266G>A	uc010kiw.2	-	78	14156	c.13554C>T	c.(13552-13554)CGC>CGT	p.R4518R	SYNE1_uc003qot.3_Silent_p.R4447R|SYNE1_uc003qou.3_Silent_p.R4518R|SYNE1_uc010kiz.2_Silent_p.R273R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4518	Cytoplasmic (Potential).|Spectrin 13.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTAGTTCGCGACCCTGGG	0.458000										HNSCC(10;0.0054)		
MACC1	346389	broad.mit.edu	37	7	20198397	20198397	+	Silent	SNP	A	A	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:20198397A>T	uc003sus.3	-	5	1896	c.1587T>A	c.(1585-1587)TCT>TCA	p.S529S	MACC1_uc010kug.2_Silent_p.S529S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	529					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						ATAAAGGAGCAGACTTGATTT	0.403000												
IGFBP1	3484	broad.mit.edu	37	7	45931540	45931540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:45931540C>T	uc003tnp.2	+	3	822	c.529C>T	c.(529-531)CGA>TGA	p.R177*	IGFBP1_uc003tno.3_Nonsense_Mutation_p.R177*|IGFBP1_uc010kyn.2_Intron	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	177	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			lung(1)	1						GGAGCCCTGCCGAATAGAACT	0.413000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHBDD2	57414	broad.mit.edu	37	7	75517437	75517437	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:75517437G>A	uc003udw.1	+	4	949	c.865G>A	c.(865-867)GGG>AGG	p.G289R	RHBDD2_uc003udv.1_Missense_Mutation_p.G148R	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	289						integral to membrane	serine-type endopeptidase activity				0						CTGCACCCCCGGGCACATGCC	0.652000												
PCLO	27445	broad.mit.edu	37	7	82584541	82584541	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:82584541C>A	uc003uhx.2	-	5	6017	c.5728G>T	c.(5728-5730)GCG>TCG	p.A1910S	PCLO_uc003uhv.2_Missense_Mutation_p.A1910S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1841					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTTTTAACGCCTTTTGGCTA	0.343000												
PCLO	27445	broad.mit.edu	37	7	82784814	82784814	+	Silent	SNP	A	A	C			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:82784814A>C	uc003uhx.2	-	2	1432	c.1143T>G	c.(1141-1143)CCT>CCG	p.P381P	PCLO_uc003uhv.2_Silent_p.P381P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	341	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTCCGATGAAGGCTTCTCTG	0.597000												
LMTK2	22853	broad.mit.edu	37	7	97800978	97800978	+	Silent	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:97800978C>T	uc003upd.1	+	7	1076	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	261	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCTGCACTTCCTGCACAGGT	0.657000												
RELN	5649	broad.mit.edu	37	7	103141292	103141292	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:103141292C>A	uc003vca.2	-	53	8727	c.8567G>T	c.(8566-8568)TGC>TTC	p.C2856F	RELN_uc010liz.2_Missense_Mutation_p.C2856F	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2856	EGF-like 7.				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			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)		GTTGTCCAAGCATCCAGGGCC	0.488000												
RHOBTB2	23221	broad.mit.edu	37	8	22874894	22874894	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr8:22874894G>A	uc003xcq.2	+	10	2633	c.2096G>A	c.(2095-2097)CGG>CAG	p.R699Q	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R721Q|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R706Q|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	699					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCCCAAACGGCGTTGGCTC	0.448000												
DMRT1	1761	broad.mit.edu	37	9	894128	894128	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr9:894128C>T	uc003zgv.2	+	3	904	c.755C>T	c.(754-756)CCT>CTT	p.P252L	DMRT1_uc003zgu.1_Missense_Mutation_p.P252L	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	252					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGGGGATCCCCTGTGAAGAAC	0.527000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WDR5	11091	broad.mit.edu	37	9	137007762	137007762	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr9:137007762A>G	uc004cey.2	+	7	620	c.449A>G	c.(448-450)GAC>GGC	p.D150G	WDR5_uc004cez.2_Missense_Mutation_p.D150G	NM_017588	NP_060058	P61964	WDR5_HUMAN	WD repeat domain 5	150	WD 3.				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding				0		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GTTCAGTTTGACGAAAGCGTG	0.507000												
CNKSR2	22866	broad.mit.edu	37	X	21581449	21581449	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:21581449C>G	uc004czx.1	+	13	1523	c.1487C>G	c.(1486-1488)TCA>TGA	p.S496*	CNKSR2_uc004czw.2_Nonsense_Mutation_p.S496*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.S447*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.S466*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.S88*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	496	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						GGGAAGAAGTCAAAAAAGAAG	0.383000												
CCDC120	90060	broad.mit.edu	37	X	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	rs147084360		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:48920041G>A	uc010nik.2	+	4	599	c.92G>A	c.(91-93)CGT>CAT	p.R31H	CCDC120_uc011mmq.1_Missense_Mutation_p.R19H|CCDC120_uc004dmf.2_Missense_Mutation_p.R31H|CCDC120_uc010nil.2_Missense_Mutation_p.R31H|CCDC120_uc011mmr.1_Missense_Mutation_p.R31H|CCDC120_uc011mms.1_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	31							protein binding			pancreas(1)	1						AAGTCAGAGCGTCTGCGGGGG	0.647000												
RHOXF1	158800	broad.mit.edu	37	X	119243203	119243203	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:119243203C>T	uc004esk.1	-	3	577	c.502G>A	c.(502-504)GCC>ACC	p.A168T	uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	168					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTTCATTGGCGAGCATTAAT	0.448000												
DCAF12L1	139170	broad.mit.edu	37	X	125685718	125685718	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:125685718C>T	uc004eul.2	-	1	1125	c.874G>A	c.(874-876)GGG>AGG	p.G292R		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	292	WD 3.									skin(3)|ovary(1)	4						AGTGCGCTCCCGGCTTTCCAC	0.612000												
PLXNB3	5365	broad.mit.edu	37	X	153044076	153044076	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:153044076T>G	uc004fii.2	+	35	5746	c.5572T>G	c.(5572-5574)TGT>GGT	p.C1858G	PLXNB3_uc010nuk.2_Missense_Mutation_p.C1881G|PLXNB3_uc011mzd.1_Missense_Mutation_p.C1497G|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1858	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCCCCACTGTCTGGAGGC	0.627000												
ATP6AP1	537	broad.mit.edu	37	X	153661991	153661991	+	Silent	SNP	C	C	A	rs146695597		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:153661991C>A	uc004flf.1	+	6	670	c.609C>A	c.(607-609)ATC>ATA	p.I203I	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.I163I	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	203					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGAGGTCATCGGGCAGGTCC	0.572000												
APC	324	broad.mit.edu	37	5	112170788	112170788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:112170788delT	uc010jby.2	+	15	2264	c.1884delT	c.(1882-1884)ACTfs	p.T628fs	APC_uc011cvt.1_Frame_Shift_Del_p.T610fs|APC_uc003kpz.3_Frame_Shift_Del_p.T628fs|APC_uc003kpy.3_Frame_Shift_Del_p.T628fs|APC_uc010jbz.2_Frame_Shift_Del_p.T345fs|APC_uc010jca.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	628	Leu-rich.|ARM 4.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGACAAACACTTTAGCCATTA	0.398		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
USP21	27005	broad.mit.edu	37	1	161134660	161134661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:161134659_161134660C>CA	uc010pkc.2	+	11	1796_1797	c.1419_1420C>CA	c.(1417-1422)atcaaafs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Ins_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTTC	0.515												
APOB	338	broad.mit.edu	37	2	21238076	21238077	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:21238075_21238076A>AT	uc002red.3	-	22	3693_3694	c.3565_3566T>AT	c.(3565-3567)atgfs	p.M1189fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1189					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTGGAAGTCATTTTTTTGGTA	0.396												
ZNF296	162979	broad.mit.edu	37	19	45575449	45575451	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:45575448_45575450GTCT>G	uc002pao.3	-	2	894_896	c.837_839AGAC>C	c.(835-840)aagacc>aaCc	p.279_280KT>N		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	279					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTGCCGGTGGGTCTTCTTGTGGC	0.680