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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRAMD1C	54762	broad.mit.edu	37	3	113588364	113588364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113588364C>T	uc003eaq.4	+	2	261	c.185C>T	c.(184-186)tCc>tTc	p.S62F	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	62						integral to membrane		p.S61G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATTTCAAGTTCCACCTATAAA	0.303000														199			16		0	0	0.000566183	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855857	228855857	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228855857C>T	uc002vpq.2	-	10	4865	c.4818G>A	c.(4816-4818)agG>agA	p.R1606R	SPHKAP_uc002vpp.2_Silent_p.R1577R|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1606						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGCAGGCTCCTCTGGGGGC	0.582000														21			5		0	0	0.000602214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175678	207175678	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207175678G>A	uc002vbp.2	+	4	6676	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2142							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTTCCAAAGAAAAGAAATT	0.358000														70			12		0	0	0.00136819	0	0
OBSCN	84033	broad.mit.edu	37	1	228505436	228505436	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:228505436C>T	uc009xez.1	+	51	13877	c.13833C>T	c.(13831-13833)ccC>ccT	p.P4611P	OBSCN_uc001hsn.3_Silent_p.P4611P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4611	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCACCTGCCCCAGACAGTGC	0.677000														50			21		0	0	0.000720815	0	0
CSMD2	114784	broad.mit.edu	37	1	34035099	34035099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:34035099C>T	uc001bxm.1	-	51	8183	c.8006G>A	c.(8005-8007)gGa>gAa	p.G2669E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2671E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2671	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGACAGTGTTCCGATGCGGTG	0.572000														25			4		0	0	0.000602214	0	0
PTPRD	5789	broad.mit.edu	37	9	8389365	8389365	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:8389365C>G	uc003zkk.3	-	36	4996	c.4253G>C	c.(4252-4254)gGg>gCg	p.G1418A	PTPRD_uc003zkp.3_Missense_Mutation_p.G1012A|PTPRD_uc003zkq.3_Missense_Mutation_p.G1011A|PTPRD_uc003zkr.3_Missense_Mutation_p.G1002A|PTPRD_uc003zks.3_Missense_Mutation_p.G1011A|PTPRD_uc022bdj.1_Missense_Mutation_p.G1008A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1418	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTCCTATACCCATCTATGTA	0.458000										TSP Lung(15;0.13)				40			8		0	0	0.000157383	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44083353A>T	uc003bdy.2	-	10	1454	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_uc003bdz.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzi.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.N377K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299000														66			14		0	0	0.00074312	0	0
LAMB1	3912	broad.mit.edu	37	7	107594168	107594168	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107594168G>A	uc003vev.2	-	19	3119	c.2958C>T	c.(2956-2958)taC>taT	p.Y986Y	LAMB1_uc003vew.2_Silent_p.Y962Y	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	962	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTGCCAAAGTATCCTGAGG	0.502000														73			14		0	0	0.00074312	0	0
ANGPT4	51378	broad.mit.edu	37	20	861886	861886	+	Silent	SNP	C	T	T	rs148851474		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:861886C>T	uc002wei.3	-	4	982	c.879G>A	c.(877-879)gaG>gaA	p.E293E	ANGPT4_uc010zpn.2_Silent_p.E287E	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	293	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCGCTGGATCTCTGCACAGT	0.572000														34			5		0	0	8.12818e-05	0	0
CKAP2	26586	broad.mit.edu	37	13	53035978	53035978	+	Silent	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:53035978C>G	uc001vgv.2	+	3	1217	c.1020C>G	c.(1018-1020)ccC>ccG	p.P340P	CKAP2_uc001vgt.2_Silent_p.P339P|CKAP2_uc001vgu.2_Silent_p.P339P|CKAP2_uc010tha.1_Silent_p.P291P	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	340					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.P339P(2)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AGTCAGAGCCCGTTGACCAGC	0.388000														76			5		0	0	0.000602214	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928403	43928403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43928403G>A	uc001zsh.3	-	7	1072	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.S286F|CATSPER2_uc001zsj.3_Missense_Mutation_p.S286F|AX748052_uc021ska.1_5'Flank	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	286					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGTTACCAGGGAATTCGGGAG	0.423000														123			12		0	0	0.00152264	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449911	158449911	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:158449911A>G	uc003qqx.2	+	2	444	c.338A>G	c.(337-339)gAg>gGg	p.E113G	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.E113G|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.E62G|SYNJ2_uc010kjo.1_Missense_Mutation_p.E62G|SYNJ2_uc021zhl.1_Non-coding_Transcript	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	113							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGCCAAGGAGGAGGAACGC	0.507000														59			5		0	0	8.12818e-05	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473553	53473553	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53473553G>A	uc002qan.4	-	3		c.948C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TCTCCTAAATGGATTATCTGA	0.363000														51			7		0	0	8.12818e-05	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349779	41349779	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:41349779C>T	uc002opl.4	-	8	1428	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	469					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGTCAATGTCCTTAGGTGACT	0.582000														98			10		0	0	0.00136819	0	0
LIPC	3990	broad.mit.edu	37	15	58855764	58855764	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:58855764C>T	uc010bga.2	+	9	1838	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	LIPC_uc010bfz.1_Silent_p.I410I|LIPC_uc002afa.2_Silent_p.I410I|LIPC_uc010bgb.1_Silent_p.I308I|LIPC_uc010ugy.2_Silent_p.I349I	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	410	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.I410I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATGTGGATATCGGCGAGCTGA	0.468000														54			5		0	0	8.12818e-05	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518174	84518174	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:84518174T>C	uc010ffz.1	+	0	369	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		GGGAGGTGGATTTTTTCTCCT	0.488000														72			17		0	0	0.00188189	0	0
FAM83F	113828	broad.mit.edu	37	22	40415271	40415271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:40415271G>A	uc003ayk.1	+	1	683	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	197								p.D197D(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CATCATCCTGGACGAGGCAGG	0.527000														59			15		0	0	0.000566183	0	0
GPR123	84435	broad.mit.edu	37	10	134912202	134912202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:134912202G>A	uc001llw.3	+	12	2350	c.2350G>A	c.(2350-2352)Gcc>Acc	p.A784T	GPR123_uc001llx.4_Missense_Mutation_p.A64T			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	64						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTTCCACGCGGCCCTGACCTT	0.647000														54			8		0	0	0.000157383	0	0
CDH26	60437	broad.mit.edu	37	20	58564020	58564020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:58564020G>A	uc002ybe.3	+	8	1396	c.1085G>A	c.(1084-1086)aGg>aAg	p.R362K	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	362	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATGAGGAGAGGCTCGTCTTC	0.572000														54			7		0	0	8.12818e-05	0	0
HEG1	57493	broad.mit.edu	37	3	124738235	124738236	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:124738235_124738236GG>TT	uc011bke.2	-	4	1526_1527	c.1458_1459CC>AA	c.(1456-1461)acccag>acAAag	p.Q487K	HEG1_uc003ehs.4_Missense_Mutation_p.Q487K	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	449	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTGAGAACTGGGTCAACACTG	0.465000														179			8		0	0	6.4e-05	0	0
BICC1	80114	broad.mit.edu	37	10	60558161	60558161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:60558161C>T	uc001jki.1	+	10	1369	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	BICC1_uc001jkj.1_Missense_Mutation_p.L98F	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	457					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TATTACAGGTCTTTTGGGACC	0.353000														61			10		0	0	0.00185496	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:182359477C>T	uc002unu.3	+	11	2040	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000														72			8		0	0	0.000673444	0	0
AF047486	0	broad.mit.edu	37	17	41020661	41020661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:41020661G>A	uc002ibx.3	+	1	289	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	AOC4_uc002ibw.1_3'UTR					Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO2.																		GGGCCTTGCGGAAACGGTGCT	0.507000														19			4		0	0	0.00024832	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121132	114121132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:114121132G>A	uc001pop.3	+	6	2141	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	ZBTB16_uc001poq.3_Missense_Mutation_p.G626D	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	626					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACGCACAACGGCGCCTCGCCC	0.627000														53			9		0	0	0.000673444	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919549	142919549	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142919549C>T	uc011ksx.2	+	0	378	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	126					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTGCAAACTTCAATCATCCTT	0.418000														150			12		0	0	0.00136819	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482224	156482224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156482224C>T	uc010jij.1	-	2	552	c.367G>A	c.(367-369)Gag>Aag	p.E123K	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.E123K|HAVCR1_uc021ygj.1_Missense_Mutation_p.E123K|HAVCR1_uc021ygk.1_5'Flank|HAVCR1_uc011ddm.2_Missense_Mutation_p.E123K	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	123					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCACAATCTCCAATGATACG	0.378000														229			15		0	0	0.000219431	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152325478C>T	uc001ezw.4	-	2	4857	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000														129			16		0	0	0.000566183	0	0
OR1A2	26189	broad.mit.edu	37	17	3101680	3101680	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:3101680C>T	uc002fvd.1	+	0	868	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S289T(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CATCTATAGTCTGAGAAATTG	0.453000														87			11		0	0	0.000308642	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189926	50189926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:50189926C>T	uc009zlk.2	-	7	1919	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.E166K	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	569	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGGTGGCTCTGGGGAAGGC	0.622000														24			4		0	0	0.00116845	0	0
FREM1	158326	broad.mit.edu	37	9	14748556	14748556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:14748556C>T	uc003zlm.3	-	31	6455	c.5639G>A	c.(5638-5640)gGg>gAg	p.G1880E	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.G416E	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1880					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGAAGACCCTGGGGGCAG	0.542000														93			9		0	0	0.000673444	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56757303G>A	uc010rjp.2	+	0	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000														18			7		0	0	0.000274275	0	0
SORL1	6653	broad.mit.edu	37	11	121448065	121448065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:121448065G>A	uc001pxx.3	+	24	3665	c.3536G>A	c.(3535-3537)gGg>gAg	p.G1179E	SORL1_uc010rzp.1_Missense_Mutation_p.G25E	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1179	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTATGTGACGGGGACAACGAC	0.537000														69			5		0	0	0.00116845	0	0
RGS11	8786	broad.mit.edu	37	16	319515	319515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:319515C>T	uc002cgj.1	-	15	1279	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	LUC7L_uc021szo.1_Intron|ITFG3_uc010uud.1_Intron|RGS11_uc002cgi.1_Missense_Mutation_p.E405K|RGS11_uc010bqs.1_Missense_Mutation_p.E415K|RGS11_uc002cgk.1_Missense_Mutation_p.E242K	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	426					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCTTCATCTCCAGCGGGATC	0.657000														41			6		0	0	0.000157383	0	0
SLC6A6	6533	broad.mit.edu	37	3	14487283	14487283	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:14487283C>T	uc010heg.3	+	3	587	c.288C>T	c.(286-288)ttC>ttT	p.F96F	SLC6A6_uc003byp.3_Silent_p.F96F|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.F96F|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	96					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGTGTTTTTCTTGGAGATCA	0.517000														76			9		0	0	0.00136819	0	0
FETUB	26998	broad.mit.edu	37	3	186362558	186362558	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:186362558A>T	uc010hyq.3	+	4	704	c.443A>T	c.(442-444)tAc>tTc	p.Y148F	FETUB_uc011brz.2_5'UTR|FETUB_uc003fqn.3_Missense_Mutation_p.Y148F|FETUB_uc010hyr.3_Missense_Mutation_p.Y111F|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Missense_Mutation_p.Y83F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	148						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AAAAAGATTTACATGACGTGC	0.408000														85			7		0	0	0.000157383	0	0
DAGLA	747	broad.mit.edu	37	11	61511339	61511339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61511339C>T	uc001nsa.3	+	19	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	836					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCCTGAGCTCGCGCACTGAG	0.672000														147			12		0	0	0.000566183	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177203	67177203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:67177203C>T	uc001ola.3	+	9	1348	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	440	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCACCTCCTTCCTGGAC	0.657000														20			6		0	0	8.12818e-05	0	0
SPEG	10290	broad.mit.edu	37	2	220354299	220354299	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220354299G>A	uc010fwg.3	+	35	8559	c.8559G>A	c.(8557-8559)caG>caA	p.Q2853Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2853	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCCTGCAGGCTGCCCGGC	0.667000														52			5		0	0	0.000602214	0	0
SELE	6401	broad.mit.edu	37	1	169696641	169696641	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:169696641A>G	uc001ggm.4	-	9	1651	c.1494T>C	c.(1492-1494)gtT>gtC	p.V498V	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	498	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCTTTCCCGGAACTGCCAGGC	0.478000														45			4		0	0	0.00116845	0	0
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:90650906C>T	uc001xye.1	+	1	1228	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493000														55			9		0	0	0.000442599	0	0
CCDC141	285025	broad.mit.edu	37	2	179732833	179732833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179732833C>T	uc002une.2	-	15	2612	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC141_uc002unf.1_Missense_Mutation_p.E311K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	257							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTGCTTTTCCTGAGAGCAC	0.517000														41			9		0	0	0.000673444	0	0
LIPI	149998	broad.mit.edu	37	21	15537565	15537565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:15537565C>T	uc002yjm.3	-	5	953	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.E264K|LIPI_uc021whh.1_Missense_Mutation_p.E294K|LIPI_uc021whi.1_Missense_Mutation_p.E129K|LIPI_uc021whj.1_Missense_Mutation_p.E294K|LIPI_uc021whe.1_Missense_Mutation_p.E259K|LIPI_uc021whf.1_Missense_Mutation_p.E294K	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	294					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CATGATTTTTCCTTAAAACAG	0.318000														41			10		0	0	0.000978159	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626584	5626584	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5626584G>A	uc001mbf.3	+	3	884	c.621G>A	c.(619-621)gaG>gaA	p.E207E	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.E153E|TRIM6-TRIM34_uc010qzj.2_Silent_p.E4E|TRIM6-TRIM34_uc001mbc.2_Silent_p.E179E|TRIM6-TRIM34_uc001mbe.3_Silent_p.E4E|TRIM6-TRIM34_uc001mbd.3_Silent_p.E207E|TRIM6-TRIM34_uc010qzk.2_Silent_p.E4E|TRIM6-TRIM34_uc010qzl.2_Silent_p.E4E|TRIM6-TRIM34_uc009yep.1_Silent_p.E4E	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	207						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGGAGCCTGAGAGATGCAGGA	0.502000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		86			22		0	0	0.000720815	0	0
DMXL1	1657	broad.mit.edu	37	5	118533521	118533521	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:118533521C>T	uc010jcl.1	+	31	7796	c.7615C>T	c.(7615-7617)Cga>Tga	p.R2539*	DMXL1_uc003ksd.2_Nonsense_Mutation_p.R2539*|DMXL1_uc021ycw.1_Nonsense_Mutation_p.R2366*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2539										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGTTCTTCTCCGACGACTTGA	0.433000														89			18		0	0	0.00152264	0	0
NYAP2	57624	broad.mit.edu	37	2	226446710	226446710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:226446710C>T	uc002voe.2	+	3	752	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	193																	GATTCCTCCTCCCAAACCGAA	0.478000														123			27		0	0	0.00106085	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223219	140223219	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140223219C>T	uc003lhs.2	+	0	2313	c.2313C>T	c.(2311-2313)gcC>gcT	p.A771A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.A771A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	808					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCATGGCCTTCAGCCCCT	0.532000														33			5		0	0	0.000602214	0	0
WDR52	55779	broad.mit.edu	37	3	113082150	113082150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113082150C>T	uc003ead.2	-	20	2843	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	WDR52_uc003eae.2_Missense_Mutation_p.E926K	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	926										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTAGCATTCTCGATACTGAAA	0.323000														99			13		0	0	0.00136819	0	0
DOK5	55816	broad.mit.edu	37	20	53260019	53260019	+	Missense_Mutation	SNP	G	A	A	rs145562960		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:53260019G>A	uc002xwy.3	+	6	978	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	253							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATGAGTGAGCGGGCCGCCTCG	0.607000														39			6		0	0	0.00116845	0	0
CADPS2	93664	broad.mit.edu	37	7	122194651	122194651	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:122194651G>A	uc022akp.1	-	7	1850	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	CADPS2_uc003vkg.4_Silent_p.I176I|CADPS2_uc022akq.1_Silent_p.I476I|CADPS2_uc010lkq.3_Silent_p.I476I|CADPS2_uc022akr.1_Silent_p.I476I	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	476					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGCCAGTTTGATTTTTAAGT	0.358000														56			7		0	0	0.000157383	0	0
ZNF223	7766	broad.mit.edu	37	19	44564992	44564992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44564992C>T	uc002oyf.1	+	3	486	c.233C>T	c.(232-234)tCa>tTa	p.S78L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAAGGGAATTCAGGTAAGAAG	0.433000														117			9		0	0	0.000673444	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131798976	131798976	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:131798976G>A	uc002tsa.1	+	8	1797	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.K426K|ARHGEF4_uc010fmx.1_Silent_p.K366K|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	426	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGTGCAGAAGATCTGCAAGT	0.602000														22			7		0	0	0.000442599	0	0
USH1C	10083	broad.mit.edu	37	11	17523528	17523528	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17523528C>T	uc001mnf.3	-	16	1394	c.1285_splice	c.e16-1	p.D429_splice	USH1C_uc001mne.3_Splice_Site_p.D729_splice|USH1C_uc009yhb.3_Splice_Site_p.D410_splice|USH1C_uc001mng.3_Splice_Site|USH1C_uc001mnd.3_Splice_Site_p.D393_splice	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	429					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCGGAAATCCTGGAAGCAAA	0.542000														33			7		0	0	0.000274275	0	0
ODZ1	10178	broad.mit.edu	37	X	123787498	123787498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:123787498G>A	uc010nqy.3	-	6	1368	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F	ODZ1_uc011muj.2_Missense_Mutation_p.S434F|ODZ1_uc004euj.3_Missense_Mutation_p.S435F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	435					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTTGGCTAAAGAAATATTGAA	0.388000														54			23		0	0	0.000720815	0	0
FHL3	2275	broad.mit.edu	37	1	38463199	38463199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:38463199C>T	uc001cck.3	-	5	900	c.721G>A	c.(721-723)Gac>Aac	p.D241N	FHL3_uc001ccm.3_Missense_Mutation_p.D133N	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	241	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGTGTCGGTCTTCAAAGGAC	0.607000														28			4		0	0	0.000602214	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433459	4433459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:4433459C>T	uc002mal.3	+	12	2696	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	866	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGCACTCCCATCTCGCT	0.662000								Chromatin Structure						36			10		0	0	0.000978159	0	0
CREG1	8804	broad.mit.edu	37	1	167517280	167517280	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:167517280G>T	uc001gel.3	-	1	511	c.433C>A	c.(433-435)Ccc>Acc	p.P145T		NM_003851	NP_003842	O75629	CREG1_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA.	145					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										ACACAAAGGGGACTTTGTGGA	0.418000														58			8		1.12685e-05	5.83571e-05	0.000274275	1	0
FAN1	22909	broad.mit.edu	37	15	31196991	31196991	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:31196991T>C	uc001zff.3	+	1	416	c.125T>C	c.(124-126)cTt>cCt	p.L42P	FAN1_uc001zfc.3_Missense_Mutation_p.L42P|FAN1_uc010azw.2_Missense_Mutation_p.L42P|FAN1_uc001zfd.3_Missense_Mutation_p.L42P|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	42					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCTGCTAAACTTGCCTGCCCC	0.403000								Direct reversal of damage						58			5		0	0	0.000602214	0	0
LRRC2	79442	broad.mit.edu	37	3	46569019	46569019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:46569019G>A	uc010hji.3	-	6	1219	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	LRRC2_uc003cpu.4_Missense_Mutation_p.P276S	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	276										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATGGAATAGGGAAGGTAGGTC	0.458000														25			6		0	0	8.12818e-05	0	0
CYTIP	9595	broad.mit.edu	37	2	158287384	158287384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:158287384C>T	uc002tzj.1	-	3	442	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	CYTIP_uc010zcl.1_Missense_Mutation_p.G18S	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	124	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCTTGCAGGCCAGCACAGTGA	0.398000														39			4		0	0	0.000602214	0	0
GFRAL	389400	broad.mit.edu	37	6	55216156	55216156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55216156G>A	uc003pcm.1	+	4	562	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	159						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAGCAAATGGAAATCCGTGT	0.453000														43			13		0	0	0.000219431	0	0
CRYBA1	1411	broad.mit.edu	37	17	27581268	27581268	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:27581268G>A	uc002hdw.3	+	5	556	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	183	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGTATATCTTGGAATGTGACC	0.418000														87			18		0	0	0.00074312	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058833	152058833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152058833G>A	uc001ezo.1	-	2	1390	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	442							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGTGTCTCAGAACCTTTTTC	0.453000														116			8		0	0	0.000157383	0	0
TDRD5	163589	broad.mit.edu	37	1	179599956	179599956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:179599956G>A	uc010pnp.2	+	6	1545	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	TDRD5_uc021pfm.1_Missense_Mutation_p.E343K|TDRD5_uc001gnf.2_Missense_Mutation_p.E343K|TDRD5_uc021pfn.1_Missense_Mutation_p.E343K|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	343	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAATGTGACAGAACTTGTTGG	0.373000														66			27		0	0	0.00127121	0	0
DDX3X	1654	broad.mit.edu	37	X	41196686	41196686	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:41196686C>A	uc004dfe.3	+	1	926	c.71C>A	c.(70-72)tCa>tAa	p.S24*	DDX3X_uc004dfd.1_Non-coding_Transcript|DDX3X_uc010nhf.1_Nonsense_Mutation_p.S24*|DDX3X_uc011mks.2_Nonsense_Mutation_p.S24*|DDX3X_uc004dff.3_Nonsense_Mutation_p.S24*|DDX3X_uc011mkq.2_Nonsense_Mutation_p.S24*|DDX3X_uc011mkr.2_Nonsense_Mutation_p.S24*|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	24					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTGAACTCTTCAGATAATCAG	0.408000										HNSCC(61;0.18)				61			30		2.04263e-09	1.06227e-08	0.000814825	1	0
CACNA1E	777	broad.mit.edu	37	1	181764139	181764139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181764139C>T	uc009wxt.3	+	45	6362	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2013F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1994F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2056					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGTTACCACTCCTCCTTGCGG	0.542000														35			6		0	0	0.000157383	0	0
CREBBP	1387	broad.mit.edu	37	16	3828033	3828034	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3828033_3828034CC>TT	uc002cvv.3	-	9	2295_2296	c.2091_2092GG>AA	c.(2089-2094)caggca>caAAca	p.A698T	CREBBP_uc002cvw.3_Missense_Mutation_p.A660T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	698					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGGTTGTGCCTGTGGAATCA	0.495000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							96			18		0	0	6.4e-05	0	0
TFEC	22797	broad.mit.edu	37	7	115596747	115596747	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:115596747T>G	uc003vhj.2	-	3	621	c.368A>C	c.(367-369)aAa>aCa	p.K123T	TFEC_uc003vhm.2_Missense_Mutation_p.K56T|TFEC_uc003vhk.2_Missense_Mutation_p.K94T|TFEC_uc003vhl.4_Missense_Mutation_p.K94T|TFEC_uc011kmw.2_Missense_Mutation_p.K213T	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATTTCTCTTTTCATTGGTAG	0.318000														17			6		0	0	0.00116845	0	0
SVOPL	136306	broad.mit.edu	37	7	138305866	138305866	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138305866C>T	uc011kqh.2	-	12	1278	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	SVOPL_uc003vue.3_Silent_p.T274T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGCGCGCATCGTGGTGGGGT	0.602000														17			5		0	0	0.00116845	0	0
PDGFC	56034	broad.mit.edu	37	4	157771501	157771501	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:157771501C>T	uc003iph.2	-	1	677	c.186G>A	c.(184-186)agG>agA	p.R62R	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	62	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATGAGGAAACCTTGGGCTGT	0.368000														43			6		0	0	8.12818e-05	0	0
SMG7	9887	broad.mit.edu	37	1	183519946	183519946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:183519946C>T	uc001gqg.3	+	19	3294	c.3044C>T	c.(3043-3045)tCt>tTt	p.S1015F	SMG7_uc001gqf.3_Missense_Mutation_p.S1019F|SMG7_uc001gqh.3_Missense_Mutation_p.S969F|SMG7_uc010poc.2_Missense_Mutation_p.S1023F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	1015	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTACCCAGCTCTCCTCCAACA	0.438000														62			14		0	0	0.000566183	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650874	75650874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:75650874C>T	uc004ecm.2	+	0	2829	c.2551C>T	c.(2551-2553)Cat>Tat	p.H851Y		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	851	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TATGGGCAACCATGCCAGGGA	0.493000														11			4		0	0	0.00024832	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35968221C>T	uc003jjv.2	-	2	404	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.E71K|UGT3A1_uc011cor.2_Missense_Mutation_p.E37K|UGT3A1_uc003jjy.2_Missense_Mutation_p.E17K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	71						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299000														56			6		0	0	0.00116845	0	0
FAM83A	84985	broad.mit.edu	37	8	124206335	124206335	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:124206335C>T	uc003ypv.3	+	3	2734	c.720C>T	c.(718-720)atC>atT	p.I240I	FAM83A_uc003ypw.3_Silent_p.I240I|FAM83A_uc003ypx.3_Silent_p.I240I|FAM83A_uc003ypy.3_Silent_p.I184I|FAM83A_uc003ypz.3_Silent_p.I240I	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	240										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGGCCAAATCCGGGAGAAGT	0.488000														52			7		0	0	0.000274275	0	0
ZXDC	79364	broad.mit.edu	37	3	126191014	126191014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:126191014G>A	uc003eiv.3	-	1	1096	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.H348Y	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	348					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I347L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTCCGCAGGTGAATTTTCAGC	0.473000														65			10		0	0	0.000978159	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209215530	209215530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:209215530C>T	uc002vcz.3	+	36	5628	c.5470C>T	c.(5470-5472)Ctc>Ttc	p.L1824F		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1824	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R1823Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTACTGTCGGCTCTACTATGC	0.418000														92			10		0	0	0.00136819	0	0
TRIM45	80263	broad.mit.edu	37	1	117661046	117661046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117661046G>A	uc001egz.2	-	1	1420	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	TRIM45_uc009whe.2_Missense_Mutation_p.R278W	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	278						cytoplasm|nucleus	zinc ion binding	p.R278Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GAGAATGTCCGGACATCAGCT	0.567000														76			8		0	0	0.000442599	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885812	24885812	+	Silent	SNP	C	T	T	rs150242696	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:24885812C>T	uc001wpf.4	+	8	5175	c.4857C>T	c.(4855-4857)atC>atT	p.I1619I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1619	Integrase catalytic.				DNA integration	integral to membrane	DNA binding	p.I1619M(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACCTGCAGATCGAGGTGGTGG	0.582000														28			5		0	0	0.000602214	0	0
INADL	10207	broad.mit.edu	37	1	62293127	62293127	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62293127C>T	uc001dab.3	+	15	1966	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*	INADL_uc009waf.1_Nonsense_Mutation_p.R618*|INADL_uc001daa.2_Nonsense_Mutation_p.R618*|INADL_uc001dad.3_Nonsense_Mutation_p.R315*|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	618	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAATCTCGCCGAGAAGCAGT	0.438000														143			14		0	0	0.00185496	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229629	74229629	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:74229629T>A	uc003phi.3	-	0	1113	c.121A>T	c.(121-123)Aaa>Taa	p.K41*	EEF1A1_uc003phj.3_Nonsense_Mutation_p.K41*|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Nonsense_Mutation_p.K41*|EEF1A1_uc003phm.1_Non-coding_Transcript|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	41						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTCAAATTTTTCAATGGTT	0.413000														112			13		0	0	0.000566183	0	0
PSG8	440533	broad.mit.edu	37	19	43259327	43259327	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43259327C>T	uc002ouo.2	-	3	899	c.801G>A	c.(799-801)gaG>gaA	p.E267E	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.E267E|PSG8_uc010ein.3_Silent_p.E145E|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	267	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGTGTAGTTCTCACTCTTAG	0.483000														123			6		0	0	0.000157383	0	0
AKAP14	158798	broad.mit.edu	37	X	119037177	119037177	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:119037177G>A	uc004ese.3	+	3	129	c.-9_splice	c.e3-1		AKAP14_uc004esd.3_Splice_Site|AKAP14_uc004esf.3_Splice_Site	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.							cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						TTTTCCCCAGGAAAAAGAAAA	0.408000														4			6		0	0	0.00116845	0	0
TRIM36	55521	broad.mit.edu	37	5	114515705	114515705	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:114515705A>T	uc003kqs.3	-	0	539	c.30T>A	c.(28-30)ttT>ttA	p.F10L	TRIM36_uc003kqt.3_5'UTR|TRIM36_uc003kqu.2_Missense_Mutation_p.F10L|TRIM36_uc003kqv.3_Missense_Mutation_p.F10L	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	10						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGATGTAGCCAAATTCACTCA	0.552000														117			10		0	0	0.00136819	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717706	142717706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:142717706G>A	uc022cfm.1	-	0	1219	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	SLITRK4_uc022cfl.1_Missense_Mutation_p.H407Y|SLITRK4_uc004fbx.3_Missense_Mutation_p.H407Y|SLITRK4_uc004fby.3_Missense_Mutation_p.H407Y	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	407						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCTAAATGAAGCAAATCC	0.403000														53			7		0	0	8.12818e-05	0	0
GPR50	9248	broad.mit.edu	37	X	150349595	150349595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:150349595G>A	uc010ntg.2	+	1	1678	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	514	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCATGCTGAGCCCACCAC	0.607000														19			7		0	0	0.000157383	0	0
ZNF143	7702	broad.mit.edu	37	11	9537807	9537807	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:9537807G>A	uc001mhr.3	+	13	1703	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	ZNF143_uc009yfu.3_Silent_p.Q527Q|ZNF143_uc010rby.2_Silent_p.Q497Q	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	528					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TGGTAACGCAGGATGGCACGC	0.498000														37			6		0	0	0.00116845	0	0
COL5A2	1290	broad.mit.edu	37	2	189917648	189917648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:189917648G>A	uc002uqk.3	-	38	2925	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S	COL5A2_uc010frx.3_Missense_Mutation_p.P460S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	884					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGAGGGCCAGGGGATCCTGCT	0.493000														32			7		0	0	8.12818e-05	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045123	102045123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:102045123G>A	uc001tii.3	+	13	1543	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	MYBPC1_uc001tif.2_Missense_Mutation_p.G481D|MYBPC1_uc001tig.3_Missense_Mutation_p.G493D|MYBPC1_uc010svr.2_Missense_Mutation_p.G468D|MYBPC1_uc010svs.2_Missense_Mutation_p.G468D|MYBPC1_uc001tij.3_Missense_Mutation_p.G468D|MYBPC1_uc010svt.2_Missense_Mutation_p.G456D|MYBPC1_uc010svu.2_Missense_Mutation_p.G449D|MYBPC1_uc001tik.3_Missense_Mutation_p.G442D|MYBPC1_uc001tih.3_Missense_Mutation_p.G493D|MYBPC1_uc010svq.2_Missense_Mutation_p.G455D	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	468	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTAAAAATGGCCTACCTGTT	0.443000														121			19		0	0	0.000586117	0	0
BRWD1	54014	broad.mit.edu	37	21	40670378	40670378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:40670378G>A	uc002yxk.2	-	4	624	c.329C>T	c.(328-330)tCt>tTt	p.S110F	BRWD1_uc021wjf.1_Missense_Mutation_p.S110F|BRWD1_uc002yxm.3_Missense_Mutation_p.S110F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACGTAGCAAAGACTGCCTTCC	0.368000														231			17		0	0	0.000958276	0	0
WDR64	128025	broad.mit.edu	37	1	241959637	241959637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:241959637G>A	uc001hzg.2	+	25	3334	c.3127G>A	c.(3127-3129)Gga>Aga	p.G1043R	WDR64_uc021plh.1_Missense_Mutation_p.G670R|WDR64_uc021pli.1_Missense_Mutation_p.G596R	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1043										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGGCATTACAGGAAAGAAGAA	0.388000														41			15		0	0	0.00074312	0	0
PON1	5444	broad.mit.edu	37	7	94931621	94931621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:94931621C>T	uc003uns.3	-	7	902	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PON1_uc011kih.2_Missense_Mutation_p.D269N	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	269					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.V268M(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GATATGTTATCCACGAGGGTA	0.383000														75			6		0	0	8.12818e-05	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212451	50212451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:50212451C>T	uc001zxu.3	-	17	2057	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	ATP8B4_uc010ber.3_Missense_Mutation_p.D512N|ATP8B4_uc010ufd.2_Missense_Mutation_p.D449N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	639					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCATCAAATCTCTTTCAATT	0.383000														107			11		0	0	0.00185496	0	0
CHD3	1107	broad.mit.edu	37	17	7803930	7803930	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7803930C>T	uc002gjd.2	+	17	3038	c.3036C>T	c.(3034-3036)atC>atT	p.I1012I	CHD3_uc002gje.2_Silent_p.I953I|CHD3_uc002gjf.2_Silent_p.I953I	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	953					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGGACCAGATCAAGAAACTGC	0.498000														72			6		0	0	0.000157383	0	0
C6	729	broad.mit.edu	37	5	41149355	41149355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:41149355C>T	uc003jmk.2	-	16	2821	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	C6_uc003jml.1_Missense_Mutation_p.E871K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	871	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E871K(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAACATTTTTCCCAGTCATAG	0.418000														167			31		0	0	0.000491102	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554283	45554283	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:45554283C>T	uc001zva.2	+	3	306	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	81					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAAGAAGATCCTGTTGGGCCT	0.413000														102			7		0	0	0.000157383	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178669	32178669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32178669C>T	uc003obb.3	-	17	2864	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	909	EGF-like 23.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGCCGCTGTCGACACAGAGG	0.592000														156			21		0	0	0.000375601	0	0
OR51M1	390059	broad.mit.edu	37	11	5410856	5410856	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5410856C>T	uc010qzc.2	+	0	250	c.228C>T	c.(226-228)tcC>tcT	p.S76S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	76						integral to membrane	olfactory receptor activity	p.S76S(2)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTACTATCCTTGCTGGCCC	0.468000														69			10		0	0	0.00136819	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213251135	213251135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:213251135C>T	uc010ptr.2	+	2	398	c.239C>T	c.(238-240)cCa>cTa	p.P80L	RPS6KC1_uc001hkd.3_Missense_Mutation_p.P68L|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_Intron|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	80	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTGTTTCCTCCATTTGCTAAA	0.269000														61			14		0	0	0.000422831	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773466	91773466	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:91773466C>T	uc010aty.3	-	17	3265	c.3111G>A	c.(3109-3111)ggG>ggA	p.G1037G		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1037					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGGCCTCCTTCCCCTGGTGAC	0.632000														22			4		0	0	0.00024832	0	0
ABCC9	10060	broad.mit.edu	37	12	22059147	22059147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:22059147C>T	uc001rfh.3	-	9	1551	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	ABCC9_uc001rfi.1_Missense_Mutation_p.E511K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	511	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E511K(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAATGTGTTCCCAGGCATAC	0.333000														41			6		0	0	0.00116845	0	0
LTN1	26046	broad.mit.edu	37	21	30303532	30303532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:30303532G>A	uc002ymr.2	-	28	5334	c.5321C>T	c.(5320-5322)tCc>tTc	p.S1774F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1728							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTGGGAAGGGAATAGTTGAA	0.343000														112			7		0	0	0.000274275	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021226	45021226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:45021226C>T	uc010ejn.1	-	5	1106	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CEACAM20_uc010ejo.1_Missense_Mutation_p.E364K|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	364	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGCTCTGCCTCTATGGTGCTG	0.577000														186			29		0	0	0.000692331	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221688	118221688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:118221688C>T	uc004era.4	-	10	3505	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1169								p.P1168P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGGTCATTTCCTGAACTTTA	0.473000														13			8		0	0	0.000442599	0	0
ZNF317	57693	broad.mit.edu	37	19	9271050	9271050	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9271050C>T	uc002mku.3	+	6	1034	c.729C>T	c.(727-729)atC>atT	p.I243I	ZNF317_uc002mkv.3_Silent_p.I102I|ZNF317_uc002mkw.3_Silent_p.I211I|ZNF317_uc002mkx.3_Silent_p.I158I|ZNF317_uc002mky.3_Silent_p.I126I	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ACAGGAGAATCCACACCGGGG	0.552000														49			7		0	0	0.000274275	0	0
RERG	85004	broad.mit.edu	37	12	15264322	15264322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:15264322C>T	uc001rcs.3	-	2	288	c.148G>A	c.(148-150)Gat>Aat	p.D50N	RERG_uc001rct.3_Missense_Mutation_p.D50N|RERG_uc010shu.2_Missense_Mutation_p.D31N	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	50					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ACTTCATCATCGATGGTTGCT	0.333000														164			23		0	0	0.000720815	0	0
NTRK3	4916	broad.mit.edu	37	15	88476248	88476248	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:88476248G>A	uc002bme.2	-	15	2190	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	NTRK3_uc002bmh.2_Silent_p.F620F|NTRK3_uc002bmf.2_Silent_p.F628F|NTRK3_uc021sua.1_Silent_p.F620F|NTRK3_uc010upl.1_Silent_p.F530F|NTRK3_uc010bnh.1_Silent_p.F620F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	628	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTACCTGAGGAACTTATTCA	0.512000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				26			6		0	0	0.000157383	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174465	72174465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:72174465C>T	uc002fcc.4	-	5	825	c.653G>A	c.(652-654)gGt>gAt	p.G218D	PMFBP1_uc002fcd.3_Missense_Mutation_p.G218D|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G73D	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	218										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGAATGATCACCCTTGTTCTC	0.393000														124			13		0	0	0.000219431	0	0
KIAA0664	23277	broad.mit.edu	37	17	2607754	2607754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:2607754G>A	uc002fuy.1	-	1	177	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	KIAA0664_uc002fux.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	31							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						TCATCTCCCGGGCCGGCCTCG	0.622000														6			3		0	0	6.4e-05	0	0
PIDD	55367	broad.mit.edu	37	11	802336	802336	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:802336G>T	uc001lro.2	-	5	1182	c.1035C>A	c.(1033-1035)ttC>ttA	p.F345L	PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Missense_Mutation_p.F199L|PIDD_uc001lrm.1_Missense_Mutation_p.F32L|PIDD_uc001lrn.2_Missense_Mutation_p.F199L|PIDD_uc001lrk.2_Missense_Mutation_p.F345L|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	345	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CTCCCGCTGGGAACTGCAGGC	0.662000														58			12		4.36969e-10	2.27532e-09	0.00185496	1	0
ZNF334	55713	broad.mit.edu	37	20	45131407	45131407	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:45131407T>G	uc002xsa.3	-	3	1102	c.640A>C	c.(640-642)Aat>Cat	p.N214H	ZNF334_uc002xsb.3_Missense_Mutation_p.N153H|ZNF334_uc002xsd.3_Missense_Mutation_p.N153H|ZNF334_uc002xsc.3_Missense_Mutation_p.N191H|ZNF334_uc010ghl.3_Missense_Mutation_p.N190H			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCGTTTTGATTGCTGGCTTTC	0.358000														104			13		0	0	0.000219431	0	0
RANBP17	64901	broad.mit.edu	37	5	170720920	170720921	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:170720920_170720921GA>AT	uc003mba.3	+	25	3119_3120	c.2977_2978GA>AT	c.(2977-2979)gaa>ATa	p.E993I	RANBP17_uc003mbb.3_Missense_Mutation_p.E318I|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	993					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATTGTCTTTGAAGACTGTCGG	0.495000			T	TRD@	ALL									239			13		0	0	6.4e-05	0	0
MSGN1	343930	broad.mit.edu	37	2	17997928	17997928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:17997928C>T	uc010yjt.2	+	0	143	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	48					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGAGCCTTTCCCCGGCTCCA	0.647000														37			7		0	0	8.12818e-05	0	0
LTF	4057	broad.mit.edu	37	3	46487985	46487985	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:46487985C>T	uc003cpq.3	-	11	1545	c.1304_splice	c.e11-1	p.K435_splice	LTF_uc003fzr.3_Splice_Site_p.K391_splice|LTF_uc010hjh.3_Splice_Site_p.K433_splice|LTF_uc003cpr.3_Splice_Site_p.K422_splice	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	435	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGTTGGGATTCTGAAAGAATA	0.413000														86			7		0	0	0.000274275	0	0
DNAJC13	23317	broad.mit.edu	37	3	132211430	132211430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:132211430C>T	uc003eor.3	+	32	3861	c.3796C>T	c.(3796-3798)Cgg>Tgg	p.R1266W		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1266							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGATACACTCCGGTTTCCAGA	0.363000														101			9		0	0	0.000274275	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841563	130841563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:130841563G>A	uc001uik.3	+	12	1776	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	PIWIL1_uc001uij.2_Missense_Mutation_p.R502Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348000														40			7		0	0	8.12818e-05	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86568126	86568126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:86568126G>A	uc011kha.2	-	6	1183	c.998C>T	c.(997-999)tCa>tTa	p.S333L	KIAA1324L_uc003uie.3_Missense_Mutation_p.S166L|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S219L|KIAA1324L_uc003uif.2_Missense_Mutation_p.S85L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	333						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGTTCTACCTGAAAATTGAGA	0.378000														35			6		0	0	8.12818e-05	0	0
FAM107B	83641	broad.mit.edu	37	10	14816576	14816576	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:14816576G>A	uc001ina.1	-	0	321	c.87C>T	c.(85-87)gcC>gcT	p.A29A	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCCAAAACAGGCGAGCAGAG	0.532000														45			5		0	0	0.000602214	0	0
CASD1	64921	broad.mit.edu	37	7	94178869	94178869	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:94178869C>A	uc003uni.4	+	13	1965	c.1738C>A	c.(1738-1740)Ctt>Att	p.L580I	CASD1_uc003unj.4_Missense_Mutation_p.L580I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	580						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GATCTTTTCTCTTTGGCCATT	0.328000														97			21		2.98393e-07	1.54855e-06	0.000375601	1	0
NSD1	64324	broad.mit.edu	37	5	176638324	176638325	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:176638324_176638325CC>TT	uc003mfr.4	+	4	3062_3063	c.2924_2925CC>TT	c.(2923-2925)tcc>tTT	p.S975F	NSD1_uc003mft.4_Missense_Mutation_p.S706F|NSD1_uc003mfs.1_Missense_Mutation_p.S872F|NSD1_uc011dfx.2_Missense_Mutation_p.S623F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	975					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTCAGAACTCCGCCAATCCTA	0.515000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				37			6		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9062517C>T	uc002mkp.3	-	2	25133	c.24929G>A	c.(24928-24930)aGg>aAg	p.R8310K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8312	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGCCCATCCTGTCTGTGGT	0.478000														45			6		0	0	0.00116845	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800610	70800610	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:70800610C>A	uc003tvy.3	+	1	313	c.313C>A	c.(313-315)Ccg>Acg	p.P105T	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	105						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TACTCTTTCCCCGGCTGAAGA	0.473000														49			5		0.00116845	0.00599602	0.00116845	1	0
abParts	0	broad.mit.edu	37	14	106405783	106405783	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:106405783G>A	uc021ser.1	-	3033		c.50009C>T								Parts of antibodies, mostly variable regions.																		AAGGCCTCTCGATGGGGACTG	0.522000														58			5		0	0	0.00116845	0	0
HTR2A	3356	broad.mit.edu	37	13	47466530	47466530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:47466530G>A	uc010acr.3	-	2	1297	c.608C>T	c.(607-609)tCa>tTa	p.S203L	HTR2A_uc001vbr.3_Missense_Mutation_p.S119L	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	203					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTTACCTACTGATATGGTCCA	0.443000														411			32		0	0	0.000491102	0	0
IL6ST	3572	broad.mit.edu	37	5	55237253	55237253	+	Missense_Mutation	SNP	C	T	T	rs143321948		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:55237253C>T	uc003jqq.3	-	16	2727	c.2414G>A	c.(2413-2415)gGt>gAt	p.G805D	IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Missense_Mutation_p.G124D|IL6ST_uc011cqk.2_Missense_Mutation_p.G516D|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.G744D	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	805					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AATACCATCACCGCCATCTAC	0.448000			O		hepatocellular ca									82			7		0	0	8.12818e-05	0	0
PDE1C	5137	broad.mit.edu	37	7	32209569	32209569	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:32209569C>T	uc003tco.2	-	3	173	c.137_splice	c.e3-1	p.R46_splice		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GACTTAGACCCTGAGGCATGG	0.522000														73			6		0	0	0.000157383	0	0
IGFL3	388555	broad.mit.edu	37	19	46623587	46623587	+	Nonstop_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:46623587T>A	uc002pea.1	-	3	403	c.378A>T	c.(376-378)taA>taT	p.*126Y		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	0						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		cctggggtttttatgggtaca	0.478000														55			6		0	0	0.00116845	0	0
ITGA8	8516	broad.mit.edu	37	10	15590479	15590479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:15590479C>T	uc001ioc.1	-	26	2855	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q	ITGA8_uc010qcb.1_Missense_Mutation_p.R937Q	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	952					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGCCCATAATCGTGACCTGAC	0.478000														51			11		0	0	0.00136819	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183073	167183073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:167183073C>T	uc003fes.1	-	4	888	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	SERPINI2_uc003fer.1_Missense_Mutation_p.E263K|SERPINI2_uc003fet.1_Missense_Mutation_p.E263K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	263					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATTAGTTTTTCCACTTCTTCT	0.348000														136			23		0	0	0.000375601	0	0
KCTD8	386617	broad.mit.edu	37	4	44176879	44176879	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:44176879G>A	uc003gwu.3	-	1	1634	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	450						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGGAATGTGGATTTTTTTAA	0.378000										HNSCC(17;0.042)				91			14		0	0	0.00185496	0	0
PPARG	5468	broad.mit.edu	37	3	12458442	12458442	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:12458442C>T	uc003bwx.3	+	5	1150	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	PPARG_uc003bwr.3_Silent_p.I325I|PPARG_uc003bws.3_Silent_p.I325I|PPARG_uc003bwu.3_Silent_p.I325I|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	353	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.E352K(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TCCACGAGATCATTTACACAA	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							348			39		0	0	0.00170553	0	0
PCLO	27445	broad.mit.edu	37	7	82764399	82764399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82764399G>A	uc003uhx.2	-	2	2756	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R823*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	769	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R823L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGCAGGTCGAGGTATGGCT	0.438000														138			27		0	0	0.00106085	0	0
C14orf101	54916	broad.mit.edu	37	14	57075835	57075836	+	Missense_Mutation	DNP	GG	TT	TT	rs150439233		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:57075835_57075836GG>TT	uc001xcm.3	+	5	770_771	c.648_649GG>TT	c.(646-651)ctgggc>ctTTgc	p.G217C	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.G217C|C14orf101_uc010aot.1_Missense_Mutation_p.G217C|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	217						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AACTCTCCCTGGGCTCTTTGTT	0.455000														306			9		0	0	6.4e-05	0	0
HTR3B	9177	broad.mit.edu	37	11	113802506	113802506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:113802506G>A	uc001pok.3	+	3	423	c.285G>A	c.(283-285)tgG>tgA	p.W95*	HTR3B_uc001pol.3_Nonsense_Mutation_p.W84*	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	95					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTTTATCCTGGAACTCCAGCA	0.413000														67			11		0	0	0.000978159	0	0
MYO10	4651	broad.mit.edu	37	5	16779670	16779670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:16779670G>A	uc003jft.4	-	8	1382	c.914C>T	c.(913-915)tCc>tTc	p.S305F		NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	305	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCCTAAAGGATTCCTGGTC	0.323000														43			5		0	0	0.00116845	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367362	234367362	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:234367362G>A	uc001hvy.1	+	2	628	c.483G>A	c.(481-483)agG>agA	p.R161R	SLC35F3_uc001hwa.1_Silent_p.R92R	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	92					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGACCTTCAGGAAGTTCGACG	0.602000														89			26		0	0	0.000409698	0	0
CLDN17	26285	broad.mit.edu	37	21	31538598	31538598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:31538598C>T	uc011acv.2	-	0	374	c.338G>A	c.(337-339)aGg>aAg	p.R113K		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	113					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R113M(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGCTTTGGCCCTCTCGTTAGA	0.542000														51			9		0	0	0.000442599	0	0
DCP2	167227	broad.mit.edu	37	5	112327832	112327832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:112327832C>T	uc003kqh.3	+	2	444	c.220C>T	c.(220-222)Ccg>Tcg	p.P74S	DCP2_uc010jcc.3_Missense_Mutation_p.P74S|DCP2_uc011cwa.2_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	74					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGTCATTGTCCGTTTTTGCT	0.338000														185			9		0	0	0.000978159	0	0
PQLC2	54896	broad.mit.edu	37	1	19652757	19652757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:19652757C>T	uc001bby.3	+	5	753	c.401C>T	c.(400-402)tCc>tTc	p.S134F	PQLC2_uc001bca.3_Missense_Mutation_p.S134F|PQLC2_uc001bbz.3_Missense_Mutation_p.S69F|PQLC2_uc001bcb.3_Missense_Mutation_p.S23F|PQLC2_uc021ohq.1_Non-coding_Transcript	NM_017765	NP_001035215	Q6ZP29	PQLC2_HUMAN	Homo sapiens PQ loop repeat containing 2 (PQLC2), transcript variant 2, mRNA.	134						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCAACTCCGTGCTGTTG	0.662000														24			7		0	0	0.000673444	0	0
RSPO4	343637	broad.mit.edu	37	20	944609	944609	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:944609C>T	uc002wej.3	-	3	664	c.564G>A	c.(562-564)agG>agA	p.R188R	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	188	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TGGGACATTTCCTTGACTCAG	0.667000														64			7		0	0	8.12818e-05	0	0
CNR1	1268	broad.mit.edu	37	6	88853780	88853780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:88853780C>T	uc010kbz.3	-	1	1344	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CNR1_uc011dzr.2_Missense_Mutation_p.R405Q|CNR1_uc011dzs.2_Missense_Mutation_p.R405Q|CNR1_uc003pmq.4_Missense_Mutation_p.R405Q|CNR1_uc011dzt.2_Missense_Mutation_p.R405Q|CNR1_uc010kca.3_Missense_Mutation_p.R372Q|CNR1_uc021zco.1_Missense_Mutation_p.R405Q	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	405					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAAGCGTGTCGCAGGTCCTT	0.527000														47			6		0	0	0.00116845	0	0
CD163	9332	broad.mit.edu	37	12	7639347	7639347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7639347G>A	uc001qsz.3	-	9	2334	c.2206C>T	c.(2206-2208)Cat>Tat	p.H736Y	CD163_uc001qta.3_Missense_Mutation_p.H736Y|CD163_uc009zfw.2_Missense_Mutation_p.H769Y	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	736	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAGCCCTCATGATAGATCTCT	0.517000														54			10		0	0	0.00185496	0	0
MYT1L	23040	broad.mit.edu	37	2	1926227	1926227	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1926227G>A	uc002qxe.3	-	9	2141	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	MYT1L_uc002qxd.3_Silent_p.I438I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	438					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCCAAAGCGATGGCTTTCT	0.547000														89			20		0	0	0.000295444	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951205	62951205	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:62951205C>T	uc001nwr.1	-	4	915	c.915G>A	c.(913-915)agG>agA	p.R305R	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.R305R	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	305					transmembrane transport	integral to membrane		p.R305K(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCATTCCATTCCTGTGTGCAG	0.463000														73			16		0	0	0.00074312	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417662	150417662	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150417662C>T	uc003whq.3	+	2	710	c.570C>T	c.(568-570)aaC>aaT	p.N190N	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CCTTTGATAACCGGGCCACCG	0.677000														36			6		0	0	8.12818e-05	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:133790076G>A	uc001qgx.4	-	17	3775	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1182	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716000														52			13		0	0	0.00185496	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:29628251A>G	uc010ztl.1	+	2	195	c.163A>G	c.(163-165)Aat>Gat	p.N55D	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000														68			5		0	0	0.000442599	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645572	7645572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:7645572G>A	uc002cys.2	+	7	1478	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	RBFOX1_uc010buf.1_Missense_Mutation_p.E164K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E163K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E164K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E207K|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.E164K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E164K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E184K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E184K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E184K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E184K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	164	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTAACTTTCGAAAATAGTGC	0.453000														87			18		0	0	0.000958276	0	0
STYK1	55359	broad.mit.edu	37	12	10777294	10777294	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:10777294G>A	uc001qys.2	-	7	1403	c.882C>T	c.(880-882)gcC>gcT	p.A294A		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	294	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCCGTTCTGGGGCAAGCCACT	0.502000										HNSCC(73;0.22)				121			12		0	0	0.000422831	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958002	128958002	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:128958002C>T	uc003kvb.1	+	9	1713	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	571	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q570Q(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATGCCAGATCCTTTTTGGGC	0.448000														31			5		0	0	0.00116845	0	0
C3orf58	205428	broad.mit.edu	37	3	143704449	143704449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:143704449C>T	uc003evo.3	+	1	1257	c.722C>T	c.(721-723)gCt>gTt	p.A241V	C3orf58_uc011bnl.2_Missense_Mutation_p.A32V	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	241						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAATGGTGGCTGTAAATTAT	0.388000														172			12		0	0	0.000422831	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278905	36278905	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36278905C>T	uc002obs.2	+	20	3099	c.2955C>T	c.(2953-2955)ccC>ccT	p.P985P	ARHGAP33_uc002obt.2_Silent_p.P982P|ARHGAP33_uc002obv.1_Silent_p.P734P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1146					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCTTTCCCCCTGACCACC	0.662000														22			5		0	0	0.00116845	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696822	108696822	+	Silent	SNP	G	A	A	rs55975687	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:108696822G>A	uc022cch.1	-	2	1384	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.F433F	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	433					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGTCCCTCCGAAACGTAGCA	0.488000														13			8		0	0	0.000442599	0	0
NR2F1	7025	broad.mit.edu	37	5	92929486	92929486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:92929486C>T	uc003kkj.3	+	2	2897	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR2F1_uc021ybj.1_Missense_Mutation_p.R353C|NR2F1_uc021ybk.1_Missense_Mutation_p.R379C	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	404					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.R404R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AACTCTCATCCGCGATATGTT	0.587000														77			16		0	0	0.00074312	0	0
SLC22A16	85413	broad.mit.edu	37	6	110757127	110757127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:110757127C>T	uc003puf.3	-	5	1416	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SLC22A16_uc003pue.3_Missense_Mutation_p.G431E	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	450					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGCAAATTTTCCAACCATAGC	0.348000														82			6		0	0	8.12818e-05	0	0
LILRA5	353514	broad.mit.edu	37	19	54818742	54818742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54818742C>T	uc002qfe.3	-	6	976	c.856G>A	c.(856-858)Gat>Aat	p.D286N	LILRA5_uc002qff.3_Missense_Mutation_p.D274N	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	286					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGCCAATCCTGAAATATC	0.527000														74			11		0	0	0.00136819	0	0
SBF1	6305	broad.mit.edu	37	22	50899591	50899591	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:50899591G>A	uc003blh.3	-	22	3159	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	SBF1_uc011arx.2_Silent_p.F652F|SBF1_uc003bli.2_Silent_p.F989F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	988					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCCACCTGGAATGTGCAGG	0.637000														12			5		0	0	0.000602214	0	0
GRIK1	2897	broad.mit.edu	37	21	30949498	30949498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:30949498G>A	uc002yno.1	-	13	2380	c.1916C>T	c.(1915-1917)tCa>tTa	p.S639L	GRIK1_uc002ynn.3_Missense_Mutation_p.S624L|GRIK1_uc011acs.2_Missense_Mutation_p.S639L|GRIK1_uc011act.2_Missense_Mutation_p.S500L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	639					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCAGCTCTGATCCTGTGAT	0.443000														56			6		0	0	0.000157383	0	0
OR56A3	390083	broad.mit.edu	37	11	5969256	5969256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5969256G>A	uc010qzt.2	+	0	680	c.680G>A	c.(679-681)cGa>cAa	p.R227Q		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATTCTGCGAGCTGTGCTG	0.517000														125			17		0	0	0.00152264	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140186884	140186884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140186884G>A	uc003lhi.2	+	0	213	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E38K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E38K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	51					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTCCGAGGAGGCCAAACA	0.682000														83			11		0	0	0.00136819	0	0
CLGN	1047	broad.mit.edu	37	4	141323145	141323145	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:141323145C>T	uc011chi.2	-	6	713	c.495G>A	c.(493-495)ttG>ttA	p.L165L	CLGN_uc003iii.3_Silent_p.L165L	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	165					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ATACCAGAATCAAATCATCAG	0.274000														109			26		0	0	0.00178596	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001793	18001793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:18001793G>A	uc002nhr.4	+	13	2097	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	584					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCCATCCTGGATGACAACTT	0.597000														63			6		0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9060263	9060263	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9060263C>T	uc002mkp.3	-	2	27387	c.27183G>A	c.(27181-27183)gtG>gtA	p.V9061V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9063	Ser-rich.|Thr-rich.			S -> T (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCACTTCAGTGG	0.498000														29			7		0	0	8.12818e-05	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686725	53686726	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:53686725_53686726CC>AA	uc002ehp.3	-	14	1937_1938	c.1873_1874GG>TT	c.(1873-1875)gga>TTa	p.G625L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.G625L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.G625L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.G625L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G625L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	625	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTCTTTATCTCCAGATGCCTGT	0.386000														499			13		0	0	6.4e-05	0	0
MPDZ	8777	broad.mit.edu	37	9	13119539	13119539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:13119539G>A	uc010mia.1	-	37	5398	c.5341C>T	c.(5341-5343)Cgt>Tgt	p.R1781C	MPDZ_uc003zkx.4_Missense_Mutation_p.R46C|MPDZ_uc003zky.4_Missense_Mutation_p.R315C|MPDZ_uc010mib.3_Missense_Mutation_p.R486C|MPDZ_uc010mhx.3_Missense_Mutation_p.R603C|MPDZ_uc011lmm.2_Missense_Mutation_p.R640C|MPDZ_uc003zkz.4_Missense_Mutation_p.R474C|MPDZ_uc010mhz.3_Missense_Mutation_p.R1748C|MPDZ_uc011lmn.2_Missense_Mutation_p.R1748C|MPDZ_uc010mhy.3_Missense_Mutation_p.R1781C|MPDZ_uc003zlb.4_Missense_Mutation_p.R1781C	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1781	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTGGCATTACGAACGTCTTCC	0.393000														84			18		0	0	0.000958276	0	0
HGD	3081	broad.mit.edu	37	3	120352175	120352175	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:120352175C>T	uc003edw.3	-	13	1467	c.1007_splice	c.e13-1	p.R336_splice	HGD_uc003edv.3_Splice_Site_p.R195_splice	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	336					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CATGCAGTTCCCTGGGAAGGT	0.468000														100			22		0	0	0.00047179	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739157	15739157	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15739157G>A	uc002nbi.3	+	10	1222	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	CYP4F8_uc010xoj.2_Silent_p.E199E	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	387					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTGAAGGAGAGCCTGCGGT	0.617000														75			5		0	0	8.12818e-05	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475394	140475394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140475394G>A	uc003lil.3	+	0	1158	c.1020G>A	c.(1018-1020)atG>atA	p.M340I	PCDHB2_uc003lim.1_Missense_Mutation_p.M1I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	340	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAAGTGATGGATTTGAATG	0.438000														59			6		0	0	0.00116845	0	0
PTCH2	8643	broad.mit.edu	37	1	45292283	45292283	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:45292283G>A	uc010olf.2	-	17	2865	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	PTCH2_uc021omv.1_Silent_p.F951F|PTCH2_uc010olg.2_Silent_p.F649F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	951					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCAGAAGAGGAAGGGGGAGC	0.657000									Basal Cell Nevus syndrome					24			4		0	0	0.000602214	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604089	111604089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:111604089G>A	uc010hqa.3	+	1	1576	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E416K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E389K|PHLDB2_uc003dye.4_Missense_Mutation_p.E389K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E389K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	389						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGATCTGTGGAATTTGATGA	0.512000														46			15		0	0	0.000219431	0	0
SPEN	23013	broad.mit.edu	37	1	16260429	16260429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16260429C>T	uc001axk.1	+	10	7898	c.7694C>T	c.(7693-7695)gCc>gTc	p.A2565V	SPEN_uc010obp.1_Missense_Mutation_p.A2524V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2565	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCAGTGCTGCCCCTTGCCTA	0.522000														123			38		0	0	0.000953801	0	0
ESM1	11082	broad.mit.edu	37	5	54277897	54277897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:54277897C>T	uc003jpk.3	-	1	448	c.379G>A	c.(379-381)Gga>Aga	p.G127R	ESM1_uc010ivt.3_Intron	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	127					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGGCATTTTCCCGTCCCCCTG	0.493000														58			9		0	0	0.000673444	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490715	48490715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:48490715G>A	uc003gyc.2	+	2	1292	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	358						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAATTCATAGGAAGCATGTAC	0.428000														106			22		0	0	0.00047179	0	0
OR2T34	127068	broad.mit.edu	37	1	248737443	248737443	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248737443G>A	uc001iep.1	-	0	616	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y205F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCAGCACAGGTACGTGAGC	0.527000														88			32		0	0	0.00195071	0	0
CIT	11113	broad.mit.edu	37	12	120221755	120221755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:120221755G>A	uc001txj.2	-	11	1558	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	CIT_uc001txh.2_Missense_Mutation_p.S35F|CIT_uc001txi.2_Missense_Mutation_p.S501F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	501					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGAGGGATCTCTGAGT	0.557000														101			24		0	0	0.000878237	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576468	33576468	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:33576468G>A	uc003jia.1	-	18	3826	c.3663C>T	c.(3661-3663)ctC>ctT	p.L1221L	ADAMTS12_uc010iuq.1_Silent_p.L1136L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1221	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTGGCTGGGGAGCAGTCCTT	0.557000										HNSCC(64;0.19)				82			7		0	0	0.000157383	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890511	23890511	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:23890511G>A	uc001ywj.4	-	0	2483	c.2379C>T	c.(2377-2379)acC>acT	p.T793T		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAAACTGGGAGGTAGCTGGGA	0.582000														82			8		0	0	0.000157383	0	0
PFKL	5211	broad.mit.edu	37	21	45739290	45739290	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:45739290C>T	uc002zek.3	+	13	1661	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	PFKL_uc002zel.3_Silent_p.L373L|PFKL_uc002zem.3_5'UTR|PFKL_uc002zen.3_5'UTR			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	373					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CCACCCAGCTCCGTGGTGGGT	0.592000														70			5		0	0	0.000602214	0	0
MS4A1	931	broad.mit.edu	37	11	60235852	60235852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:60235852G>A	uc009yna.3	+	6	1132	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	MS4A1_uc009ymz.3_Missense_Mutation_p.E256K|MS4A1_uc010rlc.2_Missense_Mutation_p.E102K|MS4A1_uc001npp.3_Missense_Mutation_p.E269K|MS4A1_uc001npq.3_Missense_Mutation_p.E269K	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	269					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCAATCCAAGAAGAGGAAGA	0.378000														29			7		0	0	0.000157383	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442097	145442097	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145442097C>T	uc003lnt.3	+	9	2261	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	SH3RF2_uc011dbl.1_Nonsense_Mutation_p.Q675*|SH3RF2_uc003lnu.3_Nonsense_Mutation_p.Q166*|SH3RF2_uc011dbn.1_Nonsense_Mutation_p.Q166*|SH3RF2_uc011dbo.2_Nonsense_Mutation_p.Q132*	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	675							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGCGTCCCAGCCTGAAGC	0.587000														44			7		0	0	0.000157383	0	0
REN	5972	broad.mit.edu	37	1	204125862	204125862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:204125862C>T	uc001haq.2	-	6	805	c.761G>A	c.(760-762)gGg>gAg	p.G254E		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	254					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	p.E253K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGGAAATTCCCTTCGTAATG	0.502000														43			7		0	0	0.000157383	0	0
CLCA4	22802	broad.mit.edu	37	1	87031544	87031544	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:87031544A>G	uc009wcs.3	+	5	839	c.795A>G	c.(793-795)atA>atG	p.I265M	CLCA4_uc009wct.3_Missense_Mutation_p.I28M|CLCA4_uc009wcu.3_Missense_Mutation_p.I85M	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	265						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TACAAAACATAAAGTGCAATT	0.333000														47			6		0	0	0.00116845	0	0
GMIP	51291	broad.mit.edu	37	19	19746342	19746342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:19746342G>A	uc002nnd.3	-	14	1559	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	GMIP_uc010xrb.2_Missense_Mutation_p.P455L|GMIP_uc010xrc.2_Missense_Mutation_p.P452L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	481					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTTCCCGAAGGGGCTGCCCAG	0.677000														26			6		0	0	0.00116845	0	0
OR11G2	390439	broad.mit.edu	37	14	20666238	20666238	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:20666238C>T	uc010tlb.2	+	0	744	c.744C>T	c.(742-744)ctC>ctT	p.L248L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTTTATGCTCTTTCTCTTCA	0.498000														173			18		0	0	0.00152264	0	0
VAV1	7409	broad.mit.edu	37	19	6821681	6821681	+	Silent	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:6821681A>C	uc002mfu.1	+	2	467	c.370A>C	c.(370-372)Agg>Cgg	p.R124R	VAV1_uc010xjh.1_Silent_p.R124R|VAV1_uc010dva.1_Silent_p.R124R|VAV1_uc002mfv.1_Silent_p.R69R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	124					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCAGAACAGGGGGATCAT	0.647000														21			4		0	0	0.00116845	0	0
THSD1	55901	broad.mit.edu	37	13	52952485	52952485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:52952485C>T	uc001vgo.3	-	4	2165	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	THSD1_uc001vgp.3_Missense_Mutation_p.M487I|THSD1_uc010tgz.2_Missense_Mutation_p.M161I	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	540						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTTCTTTTTCATCTCCTTTA	0.532000														136			15		0	0	0.00074312	0	0
TMCO5A	145942	broad.mit.edu	37	15	38228562	38228562	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:38228562T>C	uc001zjw.3	+	1	140	c.38T>C	c.(37-39)aTt>aCt	p.I13T	TMCO5A_uc001zjv.1_Missense_Mutation_p.I13T|TMCO5A_uc010bbc.1_Missense_Mutation_p.I13T	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	13						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AAAAGAAACATTATCAGTTTG	0.388000														51			11		0	0	0.000978159	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015484	129015484	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:129015484T>A	uc003kvb.1	+	16	2516	c.2516T>A	c.(2515-2517)aTt>aAt	p.I839N	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	839	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAACAGTCTATTAATAGTGAC	0.388000														87			25		0	0	0.001512	0	0
USP54	159195	broad.mit.edu	37	10	75276290	75276290	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:75276290C>T	uc001juo.3	-	17	3911	c.3894G>A	c.(3892-3894)gaG>gaA	p.E1298E	USP54_uc010qkk.2_Silent_p.E480E|USP54_uc001juk.3_Silent_p.E386E|USP54_uc001jul.3_Silent_p.E386E|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1298					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TGTGATTTCTCTCTGGATAGG	0.478000														80			8		0	0	0.000442599	0	0
CDH18	1016	broad.mit.edu	37	5	19747139	19747139	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:19747139G>A	uc003jgd.3	-	3	969	c.435C>T	c.(433-435)ttC>ttT	p.F145F	CDH18_uc011cnm.2_Silent_p.F145F|CDH18_uc003jgc.3_Silent_p.F145F|CDH18_uc021xwu.1_Silent_p.F145F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	145	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F145C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTGATGATGAACTCGGATT	0.413000														113			18		0	0	0.000566183	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480965	140480965	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140480965G>A	uc003lio.3	+	0	732	c.732G>A	c.(730-732)caG>caA	p.Q244Q	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTTGCACAGCCGCTCTATG	0.507000														102			23		0	0	0.000586117	0	0
ECE1	1889	broad.mit.edu	37	1	21563260	21563260	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:21563260G>A	uc001bek.2	-	11	1542	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	ECE1_uc001bem.2_Silent_p.T473T|ECE1_uc001bej.2_Silent_p.T477T|ECE1_uc001bei.2_Silent_p.T486T|ECE1_uc010odl.1_Silent_p.T489T|ECE1_uc009vqa.1_Silent_p.T489T	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	489					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTGATTTTCGGGTTTCCTCAT	0.567000														188			15		0	0	0.000566183	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746226	90746226	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:90746226G>A	uc011lti.2	-	3	1755	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	576																	TGGGCTTTCAGGATGTTTTCT	0.517000														74			6		0	0	8.12818e-05	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393427	145393427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145393427G>A	uc003lnt.3	+	4	1100	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	SH3RF2_uc011dbl.1_Missense_Mutation_p.G288S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	288							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTAGGGGCCCAGGGTC	0.557000														59			6		0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768738	140768738	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140768738C>T	uc003lkc.2	+	0	1287	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	433	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D428N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCTCCCCTCTCCTCCA	0.488000														122			23		0	0	0.000586117	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044715	47044715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:47044715C>T	uc003cqp.3	+	34	5815	c.5636C>T	c.(5635-5637)aCc>aTc	p.T1879I	NBEAL2_uc010hjm.2_Missense_Mutation_p.T1256I|NBEAL2_uc010hjn.2_Missense_Mutation_p.T275I	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1879							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGGCAGTGACCAAAGAGGCC	0.652000														19			5		0	0	0.000602214	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107565	55107565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:55107565G>A	uc003dhf.3	+	35	3129	c.3081G>A	c.(3079-3081)atG>atA	p.M1027I	CACNA2D3_uc003dhg.1_Missense_Mutation_p.M933I|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1027						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCATCACCATGGCACCCATTG	0.517000														33			4		0	0	0.000602214	0	0
PDZD2	23037	broad.mit.edu	37	5	32061118	32061118	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:32061118C>T	uc003jhl.3	+	13	2717	c.2329C>T	c.(2329-2331)Caa>Taa	p.Q777*	PDZD2_uc003jhm.3_Nonsense_Mutation_p.Q777*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.Q603*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	777	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.D776V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGCGGGGATCAAATCCTGGA	0.498000														46			5		0	0	0.000157383	0	0
DPPA4	55211	broad.mit.edu	37	3	109049429	109049429	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:109049429C>T	uc003dxq.4	-	4	676	c.621G>A	c.(619-621)gcG>gcA	p.A207A	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Silent_p.A207A	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	207						nucleus	protein binding	p.W206*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTGAAATTCTCGCCCAGGAGG	0.552000														64			9		0	0	0.000442599	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657627	46657627	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46657627C>T	uc003bhh.3	-	0	1593	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	531	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTCAGCTTCCAAAAAATGCC	0.428000														165			29		0	0	0.00127121	0	0
THOC6	79228	broad.mit.edu	37	16	3077243	3077243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3077243C>T	uc002ctb.2	+	10	1068	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R258W|THOC6_uc002cta.2_Missense_Mutation_p.R234W	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	258					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTTCCCCATCCGGGCGCCACA	0.637000														42			6		0	0	0.000157383	0	0
OR10A2	341276	broad.mit.edu	37	11	6891635	6891635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6891635C>T	uc001meu.1	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAGATCCCATCAGCTAAAGGG	0.453000														171			14		0	0	0.00121646	0	0
ALOX15	246	broad.mit.edu	37	17	4540554	4540554	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:4540554C>T	uc002fyh.3	-	7	833	c.808_splice	c.e7-1	p.G270_splice	ALOX15_uc010vsd.2_Splice_Site_p.G231_splice|ALOX15_uc010vse.2_Splice_Site_p.G292_splice	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	270	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTGTGCCTCCCTGGGTGGGGG	0.552000														30			4		0	0	0.00024832	0	0
RNF123	63891	broad.mit.edu	37	3	49736246	49736246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:49736246C>T	uc003cxh.3	+	8	715	c.629C>T	c.(628-630)tCc>tTc	p.S210F	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	210	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding	p.L209V(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCACTCTGTCCTTCTGCCTG	0.627000														22			5		0	0	0.00116845	0	0
FAM47A	158724	broad.mit.edu	37	X	34148155	34148155	+	Silent	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:34148155G>C	uc004ddg.3	-	0	2293	c.2241C>G	c.(2239-2241)ggC>ggG	p.G747G		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	747								p.G747G(2)|p.K746N(1)|p.K746*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCATTTCATAGCCCTTGCTTA	0.413000														67			17		0	0	0.00121646	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715210	77715210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77715210C>T	uc001xtf.2	+	19	2077	c.1865C>T	c.(1864-1866)cCt>cTt	p.P622L	TMEM63C_uc010asq.1_Missense_Mutation_p.P622L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	622						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ATCATTGTGCCTTTTGGTGAG	0.547000														67			8		0	0	0.000442599	0	0
LAMP3	27074	broad.mit.edu	37	3	182872090	182872090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:182872090C>T	uc003flh.4	-	1	363	c.139G>A	c.(139-141)Gac>Aac	p.D47N		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	47					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TTTTTTATGTCCTGTACTGTT	0.428000														114			21		0	0	0.00152264	0	0
SNRK	54861	broad.mit.edu	37	3	43381843	43381843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:43381843C>T	uc003cms.4	+	4	1128	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	SNRK_uc003cmt.4_Missense_Mutation_p.H266Y|SNRK_uc010hik.3_Missense_Mutation_p.H266Y|SNRK_uc011azr.2_Missense_Mutation_p.H60Y	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	266	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GATTGAAAATCATCCTTGGCT	0.438000														125			13		0	0	0.00185496	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409227	56409227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56409227G>A	uc001njb.1	-	0	689	c.689C>T	c.(688-690)gCc>gTc	p.A230V	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A230V(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCAAGACGGCAATGAAGAT	0.448000														117			6		0	0	8.12818e-05	0	0
ADCY10	55811	broad.mit.edu	37	1	167798662	167798662	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:167798662C>T	uc001ger.3	-	26	3892	c.3594_splice	c.e26-1	p.G1198_splice	ADCY10_uc009wvj.3_Splice_Site|ADCY10_uc010plj.2_Splice_Site_p.G1045_splice|ADCY10_uc009wvk.3_Splice_Site_p.G1106_splice	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1198					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTCTTCTTCCTATTGGATAA	0.443000														48			17		0	0	0.00188189	0	0
GOLT1B	51026	broad.mit.edu	37	12	21665283	21665283	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21665283C>T	uc001rez.2	+	3	510	c.351C>T	c.(349-351)tcC>tcT	p.S117S	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Non-coding_Transcript	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	117					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						TCCTTGGATCCCTCCTAAATT	0.343000														208			44		0	0	0.000781405	0	0
MYO1A	4640	broad.mit.edu	37	12	57431350	57431350	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:57431350G>A	uc001smw.4	-	18	2277	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	MYO1A_uc010sqz.2_Silent_p.F517F|MYO1A_uc009zpd.3_Silent_p.F679F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	679	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCTTCTAATGAAGATCTTTG	0.537000														179			37		0	0	0.000680045	0	0
LELP1	149018	broad.mit.edu	37	1	153177245	153177245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:153177245C>T	uc001fbl.3	+	1	172	c.62C>T	c.(61-63)cCc>cTc	p.P21L	LELP1_uc021ozv.1_Missense_Mutation_p.P21L	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	21	Cys/Pro-rich.							p.P21S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGCGATCCCAAGTGTGAA	0.443000														99			8		0	0	0.000673444	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530326	28530326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:28530326G>A	uc002hey.4	-	13	2226	c.1682C>T	c.(1681-1683)cCa>cTa	p.P561L	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	561					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCGTAGTTGTGGCGGGCTCAT	0.363000														108			10		0	0	0.000978159	0	0
CDK18	5129	broad.mit.edu	37	1	205497008	205497008	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:205497008C>T	uc001hcr.3	+	8	1168	c.906C>T	c.(904-906)ctC>ctT	p.L302L	CDK18_uc001hcp.3_Silent_p.L272L|CDK18_uc001hcq.3_Silent_p.L272L|CDK18_uc010prj.2_Silent_p.L183L|CDK18_uc001hcs.3_Silent_p.L183L|CDK18_uc009xbm.1_Silent_p.L197L	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	270	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGAACCTGCTCATCAACGAGA	0.642000														51			7		0	0	8.12818e-05	0	0
NMS	129521	broad.mit.edu	37	2	101098740	101098740	+	Splice_Site	SNP	C	T	T	rs139519598		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:101098740C>T	uc002tan.1	+	9	422	c.415_splice	c.e9-1	p.P139_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	139					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TTTTTTCAGCCCAGGAATGGA	0.423000														55			7		0	0	0.000442599	0	0
ZNF577	84765	broad.mit.edu	37	19	52376117	52376117	+	Missense_Mutation	SNP	G	A	A	rs140596477		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52376117G>A	uc010yde.2	-	6	1517	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.H317Y|ZNF577_uc002pxv.3_Missense_Mutation_p.H369Y|ZNF577_uc002pxw.3_Missense_Mutation_p.H310Y	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCTTATGTGAGTTTTCTCA	0.443000														115			11		0	0	0.000978159	0	0
C9orf131	138724	broad.mit.edu	37	9	35043984	35043984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:35043984G>A	uc003zvw.3	+	1	1387	c.1358G>A	c.(1357-1359)tGg>tAg	p.W453*	C9orf131_uc003zvu.3_Nonsense_Mutation_p.W405*|C9orf131_uc003zvv.3_Nonsense_Mutation_p.W380*|C9orf131_uc003zvx.3_Nonsense_Mutation_p.W418*	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAGACACCATGGAAGGGCATG	0.537000														44			12		0	0	0.00185496	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596417	11596417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:11596417G>A	uc001ash.4	+	20	3991	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1285					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TACGCTGGAGGCCGTGCGGCA	0.682000														21			8		0	0	0.000157383	0	0
ITK	3702	broad.mit.edu	37	5	156649985	156649985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156649985G>A	uc003lwo.1	+	5	690	c.608G>A	c.(607-609)aGt>aAt	p.S203N		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	203	SH3.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D202A(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCTGGACAGTTCTGAGATT	0.493000			T	SYK	peripheral T-cell lymphoma									249			26		0	0	0.000339439	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208316	140208316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140208316G>A	uc003lho.2	+	0	667	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.A214T|PCDHAC2_uc011dab.2_Missense_Mutation_p.A214T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	229	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTGACAGCCACAGATGG	0.443000														46			7		0	0	0.000157383	0	0
OR9A2	135924	broad.mit.edu	37	7	142723341	142723341	+	Silent	SNP	G	A	A	rs79423237		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142723341G>A	uc003wcc.1	-	0	879	c.879C>T	c.(877-879)gtC>gtT	p.V293V		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGGCCTCTTTGACTTTGTCAT	0.438000														102			41		0	0	0.000781405	0	0
GALNT14	79623	broad.mit.edu	37	2	31152266	31152266	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:31152266G>A	uc002rns.3	-	11	1801	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	GALNT14_uc002rnq.3_Silent_p.F362F|GALNT14_uc010ymr.2_Silent_p.F347F|GALNT14_uc002rnr.3_Silent_p.F382F|GALNT14_uc010ezo.2_Silent_p.F349F	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTACTTCCCGAAGGGCCTCT	0.547000														31			6		0	0	8.12818e-05	0	0
EHMT1	79813	broad.mit.edu	37	9	140672440	140672440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140672440C>T	uc011mfc.2	+	12	2162	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	EHMT1_uc004coa.3_Missense_Mutation_p.P709S|EHMT1_uc004cob.1_Missense_Mutation_p.P678S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	709					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGGCCAACTCCCGGCCTTTC	0.612000														54			10		0	0	0.00136819	0	0
PTPRO	5800	broad.mit.edu	37	12	15734691	15734691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:15734691G>A	uc001rcv.2	+	22	3681	c.3211G>A	c.(3211-3213)Gaa>Aaa	p.E1071K	PTPRO_uc001rcw.2_Missense_Mutation_p.E1043K|PTPRO_uc001rcx.2_Missense_Mutation_p.E260K|PTPRO_uc001rcy.2_Missense_Mutation_p.E260K|PTPRO_uc001rcz.2_Missense_Mutation_p.E232K|PTPRO_uc001rda.2_Missense_Mutation_p.E232K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1071	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GATTTCAGAGGAAGAGCAGGA	0.498000														30			17		0	0	0.00074312	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256417	15256417	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:15256417C>T	uc001iob.3	-	7	1177	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	390						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCAGTTCCTTCGTGCCGGGGG	0.617000														42			5		0	0	0.00116845	0	0
abParts	0	broad.mit.edu	37	2	90122045	90122045	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:90122045G>A	uc010yts.2	+	28		c.3185G>A								Parts of antibodies, mostly variable regions.																		AGCGGCAGTGGATCTGGGACA	0.478000														92			13		0	0	0.00074312	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866156	40866156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40866156C>T	uc001zmd.1	+	2	1334	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	RPUSD2_uc021sjh.1_Missense_Mutation_p.P384L	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	445					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCTACGGCCCCCTCCTCAGAG	0.587000														62			9		0	0	0.000978159	0	0
TCL6	27004	broad.mit.edu	37	14	96137710	96137710	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:96137710C>T	uc001yep.1	+	8		c.1752C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ctgtctcattcgcctctggat	0.468000			T	TRA@	T-ALL									21			7		0	0	0.000442599	0	0
ZNF471	57573	broad.mit.edu	37	19	57037166	57037166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:57037166G>A	uc002qnh.3	+	4	1863	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACTGAATGTGGAAAGGCTTTT	0.433000														47			10		0	0	0.000442599	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642844	127642844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:127642844C>T	uc010hsr.3	+	0	943	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.P314S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	314										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CATCTCATCTCCCAAGTACGG	0.418000														58			6		0	0	0.00116845	0	0
AXL	558	broad.mit.edu	37	19	41727060	41727060	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:41727060C>T	uc010ehj.3	+	2	508	c.318C>T	c.(316-318)tcC>tcT	p.S106S	AXL_uc010ehi.1_Silent_p.S106S|AXL_uc010ehk.3_Silent_p.S106S	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	106	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GAATCACCTCCCTGCAGCTTT	0.572000														34			6		0	0	8.12818e-05	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325208	150325208	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150325208G>A	uc022apv.1	-	2	1168	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	GIMAP6_uc003whn.3_Silent_p.L160L|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	160							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAACACCAGGATGGTGTGA	0.617000														68			14		0	0	0.000422831	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341681	157341681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:157341681C>T	uc003wno.3	-	21	3056	c.2935G>A	c.(2935-2937)Gag>Aag	p.E979K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E962K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E950K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E941K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E1002K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	979	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E979K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCAAGTGCTCCAGGGTCGCT	0.547000														87			10		0	0	0.00136819	0	0
TRHR	7201	broad.mit.edu	37	8	110131356	110131356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:110131356C>T	uc003ymz.4	+	1	958	c.869C>T	c.(868-870)tCa>tTa	p.S290L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	290						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTTGTCAACTCATTTCTCTCC	0.418000														50			7		0	0	0.000157383	0	0
PTPRD	5789	broad.mit.edu	37	9	8521505	8521505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:8521505G>A	uc003zkk.3	-	19	1476	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	PTPRD_uc003zkp.3_Missense_Mutation_p.H245Y|PTPRD_uc003zkq.3_Missense_Mutation_p.H245Y|PTPRD_uc003zkr.3_Missense_Mutation_p.H239Y|PTPRD_uc003zks.3_Missense_Mutation_p.H235Y|PTPRD_uc022bdj.1_Missense_Mutation_p.H242Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	245	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGATTTCATGATTAGTGGGT	0.458000										TSP Lung(15;0.13)				15			7		0	0	0.000157383	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725328	68725328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:68725328C>T	uc003hdq.3	-	1	142	c.77G>A	c.(76-78)gGg>gAg	p.G26E	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Intron	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	26					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATCACTACCCCTGCGACGAC	0.383000														27			5		0	0	0.000602214	0	0
FN1	2335	broad.mit.edu	37	2	216251560	216251560	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:216251560G>A	uc002vfa.3	-	27	4730	c.4464C>T	c.(4462-4464)ttC>ttT	p.F1488F	FN1_uc002vfc.3_Silent_p.F1397F|FN1_uc002vfe.3_Silent_p.F1397F|FN1_uc002vff.3_Silent_p.F1397F|FN1_uc002vfg.3_Silent_p.F1397F|FN1_uc002vfh.3_Silent_p.F1397F|FN1_uc002vfi.3_Silent_p.F1488F|FN1_uc002vfj.3_Silent_p.F1488F|FN1_uc002vfb.3_Silent_p.F1397F|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Silent_p.F115F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1487	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCCCACTGAAGTGCTCGG	0.532000														36			6		0	0	8.12818e-05	0	0
FCGBP	8857	broad.mit.edu	37	19	40424197	40424198	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40424197_40424198TC>GT	uc002omp.4	-	3	2013_2014	c.2005_2006GA>AC	c.(2005-2007)gag>ACg	p.E669T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	669	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGGTCGCCCTCATAGTGTTGG	0.604000														147			17		0	0	6.4e-05	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040636	147040636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:147040636C>T	uc010jgo.1	-	1	650	c.502G>A	c.(502-504)Gag>Aag	p.E168K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E168K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E126K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E168K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	168						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGAGCCTCGTCCACCTGC	0.532000														170			13		0	0	0.000308642	0	0
EPS8L1	54869	broad.mit.edu	37	19	55589472	55589472	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55589472A>C	uc002qis.4	+	2	138	c.34A>C	c.(34-36)Aag>Cag	p.K12Q	EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Missense_Mutation_p.K12Q|EPS8L1_uc010yfr.2_Intron|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	12						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCTGCCCCAAAGCCAAGCGC	0.577000														39			5		0	0	0.000157383	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5632314	5632314	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5632314G>A	uc001mbd.3	+	7	1556	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.V377V|TRIM6-TRIM34_uc010qzj.2_Silent_p.V228V|TRIM6-TRIM34_uc001mbc.2_Silent_p.V403V|TRIM6-TRIM34_uc001mbe.3_Silent_p.V228V|TRIM6-TRIM34_uc010qzk.2_Silent_p.V228V|TRIM6-TRIM34_uc010qzl.2_Silent_p.V228V|TRIM6-TRIM34_uc009yep.1_3'UTR	NM_001003818	NP_001185574	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 6 (TRIM6), transcript variant 1, mRNA.	753						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GATACTGGGTGATTGGGTTAC	0.488000														61			7		0	0	0.000157383	0	0
ATP13A2	23400	broad.mit.edu	37	1	17316661	17316661	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:17316661G>A	uc001baa.2	-	20	2563	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	ATP13A2_uc001bac.2_Silent_p.F786F|ATP13A2_uc001bab.2_Silent_p.F786F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	791					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCATCGGCAGGAACTCGAGAG	0.642000														35			6		0	0	8.12818e-05	0	0
GINS4	84296	broad.mit.edu	37	8	41397251	41397251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:41397251G>A	uc003xnx.3	+	4	562	c.352G>A	c.(352-354)Gag>Aag	p.E118K	GINS4_uc022aug.1_Intron	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	118					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TCCTGAGGGGGAGCCTTCCAG	0.517000														60			6		0	0	8.12818e-05	0	0
LAMB4	22798	broad.mit.edu	37	7	107706844	107706844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107706844C>T	uc010ljo.1	-	19	2732	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	LAMB4_uc003vey.2_Missense_Mutation_p.G883E|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	883	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTAAAGCCTCCACAATTGAA	0.428000														51			9		0	0	0.000978159	0	0
FAM154B	283726	broad.mit.edu	37	15	82574637	82574637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:82574637C>T	uc002bgv.3	+	2	500	c.431C>T	c.(430-432)cCt>cTt	p.P144L	FAM154B_uc010unr.2_Missense_Mutation_p.P129L|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	144										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTACAGCCCCTTTTAATGGT	0.398000														149			19		0	0	0.000375601	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892332	130892332	+	Missense_Mutation	SNP	C	T	T	rs147944919		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:130892332C>T	uc001uil.2	-	15	3080	c.2864G>A	c.(2863-2865)cGg>cAg	p.R955Q		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	955	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CACCATTCTCCGCGTCGATAC	0.517000														71			15		0	0	0.000308642	0	0
PPAP2C	8612	broad.mit.edu	37	19	288022	288022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:288022G>A	uc002loh.3	-	1	368	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	PPAP2C_uc002loi.3_Missense_Mutation_p.L68F|PPAP2C_uc002loj.3_Missense_Mutation_p.L12F	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	68					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTTACAAGGATGACGGTG	0.647000														44			7		0	0	0.000274275	0	0
PCLO	27445	broad.mit.edu	37	7	82785102	82785102	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82785102C>T	uc003uhx.2	-	1	1144	c.855G>A	c.(853-855)caG>caA	p.Q285Q	PCLO_uc003uhv.2_Silent_p.Q285Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	285	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			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTATGTCTGCCTGTTTAGTCT	0.507000														38			12		0	0	0.00136819	0	0
LUM	4060	broad.mit.edu	37	12	91502140	91502140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:91502140G>A	uc001tbm.3	-	1	1006	c.617C>T	c.(616-618)tCt>tTt	p.S206F		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	206					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGTTAGAAGAGAGACAGGGAG	0.413000														64			9		0	0	0.000673444	0	0
PAIP1	10605	broad.mit.edu	37	5	43533872	43533872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:43533872G>A	uc003job.3	-	8	1467	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	PAIP1_uc003joa.3_Missense_Mutation_p.S328F|PAIP1_uc003joc.3_Missense_Mutation_p.S295F	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	407					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AACACCATCAGATGTATAAAA	0.353000														121			19		0	0	0.00152264	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307795	46307795	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:46307795C>T	uc002pdm.3	-	2	1539	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	RSPH6A_uc002pdl.3_Silent_p.K192K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	456						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGAAGAACTTCTTGATCTTTC	0.617000														59			9		0	0	0.000673444	0	0
SPTA1	6708	broad.mit.edu	37	1	158639326	158639326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158639326C>T	uc001fst.1	-	13	1904	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	569					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGCCTTTTCACGTAGGGCA	0.468000														78			8		0	0	0.000274275	0	0
RYR2	6262	broad.mit.edu	37	1	237801733	237801734	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:237801733_237801734GG>AA	uc001hyl.1	+	44	6989_6990	c.6869_6870GG>AA	c.(6868-6870)tgg>tAA	p.W2290*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2290	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATTGGGTGGAACCCAGTTG	0.406000														176			10		0	0	6.4e-05	0	0
AOAH	313	broad.mit.edu	37	7	36570077	36570077	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:36570077C>G	uc022abu.1	-	18	1870	c.1469G>C	c.(1468-1470)aGt>aCt	p.S490T	AOAH_uc003tfh.4_Missense_Mutation_p.S490T|AOAH_uc011kba.2_Missense_Mutation_p.S458T	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	490					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAATTTCTCACTGGCTGCAAT	0.388000														54			5		0	0	8.12818e-05	0	0
APOB	338	broad.mit.edu	37	2	21234637	21234637	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21234637C>T	uc002red.3	-	25	5231	c.5103G>A	c.(5101-5103)ggG>ggA	p.G1701G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1701					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)	GGGCGGCTTTCCCATCCAGAC	0.468000														319			34		0	0	0.00111076	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49341375	49341375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:49341375G>A	uc002pkx.3	-	18	2527	c.1976C>T	c.(1975-1977)aCc>aTc	p.T659I	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc010eml.3_Silent_p.H560H	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	659						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTAAGGGGTGGTGTTCCTTGG	0.527000														39			9		0	0	0.000442599	0	0
EP300	2033	broad.mit.edu	37	22	41527608	41527608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:41527608C>T	uc003azl.4	+	5	1894	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	500					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGCAGTCTCCCCAAGGCATG	0.473000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					66			12		0	0	0.00136819	0	0
CNGA3	1261	broad.mit.edu	37	2	99012835	99012835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:99012835C>T	uc010fij.3	+	7	1355	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	CNGA3_uc002syt.3_Missense_Mutation_p.S401F|CNGA3_uc002syu.3_Missense_Mutation_p.S383F			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	401					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AATGTGGGCTCCATGATCTCG	0.512000														52			5		0	0	0.00116845	0	0
CRYBB3	1417	broad.mit.edu	37	22	25597420	25597420	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25597420C>T	uc003abo.1	+	1	129	c.57C>T	c.(55-57)gaC>gaT	p.D19D		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	19	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GCCATGGAGACCTTGGGGGCA	0.607000														62			9		0	0	0.000673444	0	0
COL28A1	340267	broad.mit.edu	37	7	7491972	7491972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:7491972C>T	uc003src.1	-	17	1604	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	COL28A1_uc011jxe.1_Missense_Mutation_p.G179E|COL28A1_uc003srd.3_Missense_Mutation_p.G51E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	496					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACTCCAATTCCCACTGGTCC	0.398000														73			9		0	0	0.00185496	0	0
TUBAL3	79861	broad.mit.edu	37	10	5443047	5443047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:5443047C>T	uc001ihy.3	-	1	45	c.7G>A	c.(7-9)Gag>Aag	p.E3K	TUBAL3_uc001ihz.3_Intron	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	3					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GAAAGGCACTCCCTCTAAAAT	0.483000														59			9		0	0	0.000978159	0	0
LOC440563	440563	broad.mit.edu	37	1	13183322	13183322	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:13183322T>G	uc010obg.2	-	1	794	c.551A>C	c.(550-552)aAg>aCg	p.K184T		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	184						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CAACTCCTGCTTAATGGCCTG	0.438000														517			40		0	0	0.000781405	0	0
LIMK2	3985	broad.mit.edu	37	22	31669481	31669481	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:31669481C>T	uc003akh.3	+	13	1747	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	LIMK2_uc003aki.3_Silent_p.I288I|LIMK2_uc003akj.3_Silent_p.I513I|LIMK2_uc003akk.3_Silent_p.I513I|LIMK2_uc011aln.2_Silent_p.I451I	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	534	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTTTGGGATCGTTCTCTGTG	0.552000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			6		0	0	0.000157383	0	0
TAF1A	9015	broad.mit.edu	37	1	222753173	222753174	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:222753173_222753174GG>TT	uc009xdz.2	-	3	541_542	c.332_333CC>AA	c.(331-333)ccc>cAA	p.P111Q	TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.P111Q|TAF1A_uc010pur.2_Missense_Mutation_p.P111Q	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	111					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TGTTGCTTTTGGGATGATAAAA	0.327000														445			17		0	0	6.4e-05	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453518	143453518	+	Missense_Mutation	SNP	C	T	T	rs17855659		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143453518C>T	uc003wdk.4	-	0	1326	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	412				E -> G (in Ref. 2; BC043153).		integral to membrane											TTCTCTTCTTCCTCTATTCGG	0.373000														172			26		0	0	0.000720815	0	0
TMEM173	340061	broad.mit.edu	37	5	138858010	138858010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:138858010G>A	uc003lep.3	-	5	906	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	202					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCAATGGGAGGAGAATATAC	0.562000														98			10		0	0	0.000978159	0	0
TDRD7	23424	broad.mit.edu	37	9	100193324	100193324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:100193324G>A	uc004axj.3	+	2	542	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDRD7_uc011lux.2_Missense_Mutation_p.R32K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	106					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGTCAGATGAGAGTGAAGAAA	0.403000														66			6		0	0	0.000157383	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833032	34833032	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:34833032C>T	uc002nvd.4	+	9	3052	c.2193C>T	c.(2191-2193)gtC>gtT	p.V731V		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	731								p.Q730E(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AACCTCAAGTCCAATACTACC	0.642000														89			20		0	0	0.000586117	0	0
FAT2	2196	broad.mit.edu	37	5	150923884	150923884	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:150923884G>A	uc003lue.4	-	8	6817	c.6804C>T	c.(6802-6804)aaC>aaT	p.N2268N		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2268	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGGGAGGGTTATCATTGA	0.502000														47			10		0	0	0.000673444	0	0
PCCA	5095	broad.mit.edu	37	13	100953816	100953816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:100953816C>T	uc001voo.3	+	12	1274	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	PCCA_uc010aga.3_Missense_Mutation_p.R364C|PCCA_uc010tiz.2_Missense_Mutation_p.R390C	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	390	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGCTGATATTCGCATCAACGG	0.498000														104			11		0	0	0.000978159	0	0
BLM	641	broad.mit.edu	37	15	91303999	91304000	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:91303999_91304000GG>TT	uc002bpr.3	+	6	1493_1494	c.1396_1397GG>TT	c.(1396-1398)ggg>TTg	p.G466L	BLM_uc010uqh.2_Missense_Mutation_p.G466L|BLM_uc010uqi.2_Missense_Mutation_p.G91L|BLM_uc010bnx.3_Missense_Mutation_p.G466L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	466					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGACTGTTTA	0.436000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					307			8		0	0	6.4e-05	0	0
EMID1	129080	broad.mit.edu	37	22	29628258	29628258	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:29628258C>T	uc003aem.3	+	7	765	c.690C>T	c.(688-690)ccC>ccT	p.P230P	EMID1_uc003aen.3_Silent_p.P228P|EMID1_uc021wnr.1_5'Flank	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	228	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CACAGGGCCCCCCAGGGAGCC	0.697000														54			12		0	0	0.000566183	0	0
DNAH5	1767	broad.mit.edu	37	5	13900441	13900441	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13900441G>A	uc003jfd.2	-	14	2175	c.2133C>T	c.(2131-2133)gaC>gaT	p.D711D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	711	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATATCTGAGGGTCAAAGTTTA	0.433000									Kartagener syndrome					67			10		0	0	0.000978159	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629908	64629908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:64629908C>T	uc003jtp.3	-	7	1892	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	360	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGCAGATATCATATCTATGG	0.279000														63			6		0	0	8.12818e-05	0	0
KCNK1	3775	broad.mit.edu	37	1	233802606	233802606	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:233802606G>A	uc010pxo.1	+	1	789	c.621G>A	c.(619-621)gaG>gaA	p.E207E		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	207						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CAGTCCTGGAGGATGACTGGA	0.507000														82			8		0	0	0.000673444	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563942	140563942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140563942C>T	uc003liv.3	+	0	2963	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	603	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.721000														54			10		0	0	0.00185496	0	0
FOLH1	2346	broad.mit.edu	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:49175930G>A	uc001ngy.3	-	15	1999	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	580	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCCCTCCTCGAACCTGGGCC	0.413000														23			6		0	0	0.000442599	0	0
C18orf26	284254	broad.mit.edu	37	18	52265098	52265098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:52265098C>T	uc002lfq.1	+	2	401	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	119						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CCTGGCTTGTCTCTTAGCCTG	0.373000														56			7		0	0	0.000442599	0	0
ZNF677	342926	broad.mit.edu	37	19	53741153	53741153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53741153G>A	uc002qbg.1	-	4	978	c.827C>T	c.(826-828)tCg>tTg	p.S276L	ZNF677_uc002qbf.1_Missense_Mutation_p.S276L	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S276S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGTGAGGTTCGAACTTTTGCT	0.383000														78			16		0	0	0.000308642	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775191	100775191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100775191G>A	uc003uxt.3	+	3	689	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SERPINE1_uc011kkj.2_Missense_Mutation_p.D166N|SERPINE1_uc003uxu.2_Missense_Mutation_p.D12N	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	181					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGAGCCGTGGACCAGCTGAC	0.517000														137			10		0	0	0.000673444	0	0
OR2A5	393046	broad.mit.edu	37	7	143748373	143748373	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143748373G>A	uc011ktw.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATAGCCTGAGGAACGCAGAGG	0.527000														70			7		0	0	0.000442599	0	0
MCM7	4176	broad.mit.edu	37	7	99693651	99693651	+	Silent	SNP	G	A	A	rs150968866		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:99693651G>A	uc003usw.1	-	10	1851	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	MCM7_uc003usv.1_Silent_p.F271F|MCM7_uc003usx.1_Silent_p.F271F|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	447	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCATCTTGTCGAACTCATCAA	0.592000														35			7		0	0	0.000442599	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130791572	130791572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:130791572G>A	uc003kvn.2	-	19	3204	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.L1050F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.L1005F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.L1000F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.L1000F|RAPGEF6_uc003kvq.3_Missense_Mutation_p.L717F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.L1000F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1000	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGACTACTAAGAATATTTCTA	0.333000														103			20		0	0	0.000586117	0	0
CHRND	1144	broad.mit.edu	37	2	233393644	233393644	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:233393644C>T	uc002vsw.3	+	5	586	c.582C>T	c.(580-582)ccC>ccT	p.P194P	CHRND_uc021vyi.1_Intron|CHRND_uc010zmg.2_Silent_p.P179P|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	194					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCACCTACCCCGTGGAGTGGA	0.582000														34			10		0	0	0.000978159	0	0
SCG2	7857	broad.mit.edu	37	2	224463503	224463503	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:224463503G>A	uc021vxk.1	-	0	498	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SCG2_uc002vnm.3_Silent_p.F166F	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	166					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACATAGGAGGGAATTGCATGT	0.408000														93			23		0	0	0.000375601	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084964	32084964	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:32084964C>T	uc009vtx.2	+	2	556	c.171C>T	c.(169-171)ttC>ttT	p.F57F	HCRTR1_uc001btc.4_Missense_Mutation_p.S31L|HCRTR1_uc001btd.2_Silent_p.F57F|HCRTR1_uc010ogl.2_Silent_p.F57F	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	57					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGCTGTGTTCGTCGTGGCCC	0.587000														68			8		0	0	0.000157383	0	0
MYH7	4625	broad.mit.edu	37	14	23897715	23897715	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:23897715G>A	uc001wjx.3	-	14	1678	c.1572C>T	c.(1570-1572)atC>atT	p.I524I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	524	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCACCTTCTCGATGAGGTCAA	0.512000														43			10		0	0	0.000442599	0	0
VIP	7432	broad.mit.edu	37	6	153073396	153073396	+	Silent	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:153073396T>G	uc003qpe.3	+	1	256	c.84T>G	c.(82-84)ctT>ctG	p.L28L	VIP_uc003qpf.3_Silent_p.L28L|VIP_uc010kjd.3_Silent_p.L28L	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	28					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CATGGCCTCTTTACAGGGCAC	0.453000														22			4		0	0	0.00024832	0	0
BUD13	84811	broad.mit.edu	37	11	116628504	116628504	+	Silent	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:116628504G>T	uc001ppn.3	-	7	1696	c.1662C>A	c.(1660-1662)gcC>gcA	p.A554A	BUD13_uc001ppo.3_Silent_p.A420A	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	554										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TGTTCTCCTTGGCCTTATTCT	0.448000														495			14		0.000422831	0.00218428	0.000422831	1	0
ANO2	57101	broad.mit.edu	37	12	5939613	5939613	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:5939613G>A	uc001qnm.2	-	5	888	c.816C>T	c.(814-816)acC>acT	p.T272T	ANO2_uc021qtt.1_Silent_p.T276T	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	277						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGGCTGCGGGTGGCATTAT	0.493000														14			5		0	0	8.12818e-05	0	0
GON4L	54856	broad.mit.edu	37	1	155640148	155640148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:155640148G>A	uc010pgi.2	-	6	1297	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	GON4L_uc021paz.1_Missense_Mutation_p.P231S|GON4L_uc010pgg.2_Missense_Mutation_p.P136S|GON4L_uc010pgh.2_Missense_Mutation_p.P220S|GON4L_uc009wqt.3_Missense_Mutation_p.P220S|GON4L_uc001flh.3_Missense_Mutation_p.P369S|GON4L_uc001fll.3_Missense_Mutation_p.P231S|GON4L_uc001flk.3_Missense_Mutation_p.P220S|GON4L_uc001flm.3_Missense_Mutation_p.P220S|GON4L_uc009wqu.3_Missense_Mutation_p.P64S|GON4L_uc009wqv.3_Intron|GON4L_uc009wqw.3_Missense_Mutation_p.P220S|GON4L_uc001flj.3_Missense_Mutation_p.P231S|GON4L_uc001fli.3_Missense_Mutation_p.P231S|GON4L_uc001flo.3_Missense_Mutation_p.P165S|GON4L_uc001fln.3_Missense_Mutation_p.P297S|GON4L_uc010pgj.2_Missense_Mutation_p.P297S|GON4L_uc001flp.3_Missense_Mutation_p.P231S|GON4L_uc009wqx.3_Missense_Mutation_p.P369S|GON4L_uc010pgk.2_Intron	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	820					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTATCCTGGGGATTCTTTGCC	0.458000														68			27		0	0	0.00178596	0	0
SERPING1	710	broad.mit.edu	37	11	57367465	57367465	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57367465C>T	uc001nkp.1	+	2	356	c.165C>T	c.(163-165)ttC>ttT	p.F55F	SERPING1_uc010rju.1_Silent_p.F3F|SERPING1_uc010rjv.1_Silent_p.F60F|SERPING1_uc001nkr.1_Silent_p.F55F|SERPING1_uc001nks.1_Intron	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	55					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGATGCTATTCGTTGAACCCA	0.488000														58			7		0	0	0.000157383	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679563	53679563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:53679563G>A	uc002ehp.3	-	16	2721	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.S886L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.S886L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	886					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGTGCCAACGAAATCAGAGG	0.328000														261			17		0	0	0.000375601	0	0
PLIN4	729359	broad.mit.edu	37	19	4511880	4511880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:4511880C>T	uc002mar.1	-	2	2050	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	684	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGACTGTGTCCTTGGTGCCG	0.582000														159			12		0	0	0.000422831	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277506	105277506	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:105277506G>A	uc010npd.3	-	3	1468	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	SERPINA7_uc004eme.2_Silent_p.N411N	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	411					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTTCCGTTGGGTTCACAACTT	0.388000														60			11		0	0	0.000219431	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660969	95660969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:95660969G>A	uc001kjg.2	+	2	881	c.820G>A	c.(820-822)Gga>Aga	p.G274R	SLC35G1_uc001kji.3_Intron|SLC35G1_uc001kjf.2_Missense_Mutation_p.G273R|SLC35G1_uc010qnw.2_Missense_Mutation_p.G257R|SLC35G1_uc001kjj.3_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	Homo sapiens solute carrier family 35, member G1 (SLC35G1), transcript variant 1, mRNA.	274	DUF6 2.					integral to membrane											CTCTGTATTAGGAGAGTGGAG	0.413000														37			4		0	0	0.00024832	0	0
FOXP1	27086	broad.mit.edu	37	3	71161711	71161711	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:71161711C>T	uc003dol.3	-	2	581	c.258G>A	c.(256-258)agG>agA	p.R86R	FOXP1_uc003dom.3_Silent_p.R86R|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.R86R|FOXP1_uc003doo.3_Silent_p.R86R|FOXP1_uc003dop.3_Silent_p.R86R|FOXP1_uc021xao.1_Silent_p.R86R|FOXP1_uc003doq.1_Silent_p.R86R|FOXP1_uc003dok.3_Silent_p.R88R|FOXP1_uc003doj.3_Silent_p.R88R	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	86	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTTGTCATTCCTCTTGGGAG	0.413000			T	PAX5	ALL									134			9		0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179592939	179592939	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179592939G>A	uc021vsy.1	-	63	16105	c.15880C>T	c.(15880-15882)Ctg>Ttg	p.L5294L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1955L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6221	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACTTCCAGAGACACAGAT	0.393000														33			4		0	0	0.00116845	0	0
SOX3	6658	broad.mit.edu	37	X	139586740	139586740	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:139586740G>A	uc004fbd.1	-	0	486	c.486C>T	c.(484-486)ccC>ccT	p.P162P		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	162					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.N161K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TGTGCATCTTGGGGTTCTCCA	0.612000														25			5		0	0	0.00116845	0	0
CMYA5	202333	broad.mit.edu	37	5	79027333	79027333	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79027333G>A	uc003kgc.3	+	1	2817	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	915						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGCACAGGAGGAAGAAATTG	0.423000														43			8		0	0	0.000157383	0	0
ANO2	57101	broad.mit.edu	37	12	5841763	5841763	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:5841763G>A	uc001qnm.2	-	14	1540	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	495						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATTTTCTCTCGAACTTTGGTT	0.453000														52			16		0	0	0.00074312	0	0
FRRS1	391059	broad.mit.edu	37	1	100203756	100203756	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:100203756C>A	uc001dsh.1	-	6	1247	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	215					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGGAAGCCTCCTTCTCTGGGT	0.428000														69			11		7.03913e-09	3.65917e-08	0.00136819	1	0
SYNE1	23345	broad.mit.edu	37	6	152457867	152457867	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:152457867C>T	uc021zhb.1	-	138	25768	c.25545G>A	c.(25543-25545)aaG>aaA	p.K8515K	SYNE1_uc003qos.4_Silent_p.K3039K|SYNE1_uc003qot.4_Silent_p.K8467K|SYNE1_uc003qou.4_Silent_p.K8515K|SYNE1_uc011eez.2_Silent_p.K717K|SYNE1_uc003qoq.4_Silent_p.K717K|SYNE1_uc003qor.4_Silent_p.K1438K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8515					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGGCTCTCCTTGCTGTCAG	0.597000										HNSCC(10;0.0054)				55			9		0	0	0.000442599	0	0
MYOCD	93649	broad.mit.edu	37	17	12656124	12656124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:12656124C>T	uc002gno.2	+	9	1818	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	MYOCD_uc002gnn.2_Missense_Mutation_p.P507S|MYOCD_uc002gnp.1_Missense_Mutation_p.P411S|MYOCD_uc002gnq.2_Missense_Mutation_p.P226S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	507	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGCTCTGTTCCTTCTGAGCT	0.572000														15			5		0	0	0.000602214	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205542	149205542	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:149205542G>A	uc003exd.2	+	3	698	c.401_splice	c.e3+1	p.G134_splice		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	134						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCCACGACGGGTAAGGCCAC	0.517000														40			8		0	0	0.000274275	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27835763	27835764	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:27835763_27835764GG>TT	uc003szl.3	+	11	1745_1746	c.1563_1564GG>TT	c.(1561-1566)aagggg>aaTTgg	p.521_522KG>NW	TAX1BP1_uc011jzo.2_Missense_Mutation_p.521_522KG>NW|TAX1BP1_uc003szk.3_Missense_Mutation_p.521_522KG>NW|TAX1BP1_uc011jzp.2_Missense_Mutation_p.364_365KG>NW	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	521					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TAGTAACAAAGGGGCAAGTCTG	0.337000														412			12		0	0	6.4e-05	0	0
NRP2	8828	broad.mit.edu	37	2	206659665	206659665	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:206659665C>T	uc002vaw.3	+	16	3470	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S	NRP2_uc002vax.3_Silent_p.S888S|NRP2_uc002vay.3_Silent_p.S871S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	893					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCACCTGTTCCTACTCGGGCC	0.572000														43			6		0	0	0.00116845	0	0
XRN1	54464	broad.mit.edu	37	3	142122526	142122526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142122526G>A	uc003eus.3	-	17	2160	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	XRN1_uc010huu.3_Missense_Mutation_p.S164L|XRN1_uc003eut.3_Missense_Mutation_p.S698L|XRN1_uc003euu.3_Missense_Mutation_p.S698L|XRN1_uc003euv.1_Missense_Mutation_p.S559L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	698					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAGTTCATCTGATTCTGCATC	0.323000														176			16		0	0	0.00074312	0	0
LRIT2	340745	broad.mit.edu	37	10	85984762	85984762	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:85984762C>T	uc010qmc.2	-	1	227	c.219G>A	c.(217-219)ggG>ggA	p.G73G	LRIT2_uc001kcy.3_Silent_p.G73G	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	73						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGATGAAAGACCCTTGGGGCA	0.463000														73			12		0	0	0.00136819	0	0
SCN11A	11280	broad.mit.edu	37	3	38968369	38968369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38968369C>T	uc021wvy.1	-	3	741	c.542G>A	c.(541-543)aGa>aAa	p.R181K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	181					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATGAAACCTCTTGCCAATAT	0.338000														107			17		0	0	0.000566183	0	0
MGLL	11343	broad.mit.edu	37	3	127411111	127411111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:127411111G>A	uc003ejx.3	-	7	987	c.842C>T	c.(841-843)tCc>tTc	p.S281F	MGLL_uc003ejw.3_Missense_Mutation_p.S291F|MGLL_uc011bko.2_Missense_Mutation_p.S261F|MGLL_uc003ejv.3_Missense_Mutation_p.S255F	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	281					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						ATGGAAGACGGAGTTGGTGAC	0.537000														72			14		0	0	0.000308642	0	0
FER1L6	654463	broad.mit.edu	37	8	125094666	125094666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:125094666G>A	uc003yqw.3	+	32	4564	c.4358G>A	c.(4357-4359)cGa>cAa	p.R1453Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1453						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCAAACACCGAGCCATCTGT	0.498000														66			31		0	0	0.000409698	0	0
CHIT1	1118	broad.mit.edu	37	1	203186021	203186021	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:203186021T>C	uc001gzn.2	-	10	1493	c.1397A>G	c.(1396-1398)aAt>aGt	p.N466S	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.N228S|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.N457S	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	466	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCGACTCAATTCCAGGTGCA	0.612000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			7		0	0	0.000157383	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284794	55284794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55284794G>A	uc010erz.1	+	2	118	c.80G>A	c.(79-81)aGa>aAa	p.R27K	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.R27K	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	27					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGAGTCCACAGAAAACCTTCC	0.507000														124			22		0	0	0.000720815	0	0
ITGA11	22801	broad.mit.edu	37	15	68643055	68643055	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:68643055G>A	uc010bib.3	-	8	1047	c.960C>T	c.(958-960)atC>atT	p.I320I	ITGA11_uc002ari.3_Silent_p.I320I	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	320	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGTCACTGGCGATGTATTTGA	0.507000														41			13		0	0	0.00185496	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966268	88966268	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:88966268C>T	uc011khi.2	+	3	4510	c.3972C>T	c.(3970-3972)tgC>tgT	p.C1324C		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1324						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGATTTTTGCCATCATTCTT	0.398000										HNSCC(36;0.09)				47			11		0	0	0.000978159	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291491	141291491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:141291491G>A	uc022cfj.1	-	0	283	c.283C>T	c.(283-285)Cct>Tct	p.P95S	MAGEC2_uc004fbu.2_Missense_Mutation_p.P95S	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	95	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ctctgggaaggaccctgtgga	0.557000										HNSCC(46;0.14)				13			9		0	0	0.000274275	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957191	102957191	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:102957191G>A	uc002tbu.1	+	4	784	c.513G>A	c.(511-513)gtG>gtA	p.V171V	IL1RL1_uc010ywa.2_Silent_p.V54V|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.V171V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGATAATGTGATGACTGAGG	0.413000														80			9		0	0	0.000978159	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956034	18956034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18956034G>A	uc001mpg.3	-	0	516	c.298C>T	c.(298-300)Cct>Tct	p.P100S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	100					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCATCACAGGATAGAGGATT	0.537000														233			7		0	0	0.000442599	0	0
UGGT2	55757	broad.mit.edu	37	13	96506627	96506627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:96506627G>A	uc001vmt.3	-	34	4281	c.4111C>T	c.(4111-4113)Cgt>Tgt	p.R1371C	UGGT2_uc001vms.3_Missense_Mutation_p.R91C	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1371	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCCAGAAACGATATCCATCC	0.393000														80			7		0	0	0.000157383	0	0
AK310441	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	T	T	rs4950650		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:148889678C>T	uc009wkv.1	+	6		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000														69			5		0	0	0.000157383	0	0
OTX2	5015	broad.mit.edu	37	14	57269073	57269073	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:57269073C>T	uc001xcq.3	-	5	548	c.274_splice	c.e5-1	p.V92_splice	OTX2_uc001xcp.3_Splice_Site_p.V84_splice|OTX2_uc021rtm.1_Splice_Site|OTX2_uc010aou.3_Splice_Site_p.V84_splice	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	84					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418000														146			15		0	0	0.000958276	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249076	140249076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140249076C>T	uc003lia.2	+	0	1246	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.P130S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	145	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGACAACCCGCCGGTGTT	0.552000														115			27		0	0	0.000878237	0	0
BCAN	63827	broad.mit.edu	37	1	156621399	156621399	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156621399C>T	uc001fpp.3	+	6	1551	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	BCAN_uc001fpo.3_Silent_p.I405I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	405	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGGGCCATCTACTCCATCC	0.582000														40			19		0	0	0.000375601	0	0
DNER	92737	broad.mit.edu	37	2	230231825	230231825	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:230231825C>T	uc002vpv.3	-	11	2013	c.1866G>A	c.(1864-1866)tgG>tgA	p.W622*		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	622					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCCGGACTTCCATTGGAGGT	0.483000														28			6		0	0	0.000157383	0	0
TCP11	6954	broad.mit.edu	37	6	35088743	35088743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:35088743C>T	uc003okd.2	-	5	878	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	TCP11_uc003ojz.1_Missense_Mutation_p.E158K|TCP11_uc003oka.2_Missense_Mutation_p.E158K|TCP11_uc003okb.2_Missense_Mutation_p.E157K|TCP11_uc011dsu.1_Missense_Mutation_p.E215K|TCP11_uc003okc.2_Missense_Mutation_p.E157K|TCP11_uc011dsv.1_Missense_Mutation_p.E182K|TCP11_uc011dsw.1_Missense_Mutation_p.E187K	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	220					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATGGAATGTTCCTGCAGGTGG	0.478000														162			37		0	0	0.00128727	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242252	87242252	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:87242252C>T	uc003ydq.1	-	0	353	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SLC7A13_uc003ydr.1_Silent_p.K85K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	85						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAAAGTATCTCTTGAGAAAAT	0.478000														26			5		0	0	0.00116845	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997079	82997079	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82997079G>A	uc003uhy.2	-	16	2772	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	SEMA3E_uc022agy.1_Silent_p.I657I	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	717					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCTATAACCGATCAGCTGCA	0.473000														70			19		0	0	0.00188189	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726259	168726259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:168726259C>T	uc021vsc.1	+	0	710	c.710C>T	c.(709-711)tCg>tTg	p.S237L	B3GALT1_uc002udz.1_Missense_Mutation_p.S237L	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	237					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.S237L(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTTCTGTTCGGGGACTGGC	0.488000														50			15		0	0	0.000422831	0	0
APOL5	80831	broad.mit.edu	37	22	36116687	36116687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:36116687C>T	uc003aof.3	+	1	128	c.128C>T	c.(127-129)cCa>cTa	p.P43L		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	43					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGAAGTCCccagaacctgag	0.512000														19			11		0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179586652	179586652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179586652C>T	uc021vsy.1	-	74	19231	c.19006G>A	c.(19006-19008)Gga>Aga	p.G6336R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2997R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7263	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAGTCTCCTTTGCCTACT	0.418000														158			10		0	0	0.000442599	0	0
FAM135A	57579	broad.mit.edu	37	6	71243496	71243496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:71243496C>T	uc003pfj.3	+	15	4037	c.3904C>T	c.(3904-3906)Cgt>Tgt	p.R1302C	FAM135A_uc003pfi.3_Missense_Mutation_p.R1106C|FAM135A_uc003pfh.3_Missense_Mutation_p.R1089C|FAM135A_uc003pfl.3_Missense_Mutation_p.R969C|FAM135A_uc003pfn.3_Missense_Mutation_p.R508C|FAM135A_uc003pfo.1_Missense_Mutation_p.R673C|FAM135A_uc010kan.2_Missense_Mutation_p.R81C	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1302										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CATGACTGATCGTCTTTTGGA	0.259000														114			7		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179440025	179440025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179440025C>T	uc021vsy.1	-	274	63355	c.63130G>A	c.(63130-63132)Ggg>Agg	p.G21044R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14739R|TTN_uc021vta.1_Missense_Mutation_p.G14672R|TTN_uc021vtb.1_Missense_Mutation_p.G14547R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21971	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTCTCCCCGCGCTGTTC	0.502000														10			5		0	0	8.12818e-05	0	0
SCN11A	11280	broad.mit.edu	37	3	38936173	38936173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38936173C>T	uc021wvy.1	-	14	2885	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	SCN11A_uc010hhn.1_Missense_Mutation_p.E12K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	896					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATACCAAGCTCCTCCTGGGTC	0.517000														53			5		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179569676	179569676	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179569676C>T	uc021vsy.1	-	100	26115	c.25890G>A	c.(25888-25890)gaG>gaA	p.E8630E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E5291E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9557	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTGACCTCTCTATTTCCT	0.338000														152			12		0	0	0.000422831	0	0
CBS	875	broad.mit.edu	37	21	44492176	44492176	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:44492176C>T	uc002zcu.2	-	2	373	c.128G>A	c.(127-129)tGg>tAg	p.W43*	CBS_uc002zct.2_Nonsense_Mutation_p.W43*|CBS_uc002zcw.3_Nonsense_Mutation_p.W43*|CBS_uc002zcv.2_Nonsense_Mutation_p.W43*	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	43					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	p.W43*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GGGCCGGATCCACAGGGGCTC	0.677000														187			11		0	0	0.00136819	0	0
C2orf71	388939	broad.mit.edu	37	2	29294236	29294236	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29294236G>A	uc002rmt.2	-	0	2892	c.2892C>T	c.(2890-2892)ggC>ggT	p.G964G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	964					response to stimulus|visual perception	photoreceptor outer segment		p.S963F(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGATGGAGGGCCGGAGTGGT	0.647000														31			6		0	0	0.000274275	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250851	142250852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142250851_142250852GG>AA	uc011ksf.2	-	1	210_211	c.195_196CC>TT	c.(193-198)atccat>atTTat	p.H66Y	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TTTGAATAATGGATGAGCCTTA	0.485000														42			7		0	0	6.4e-05	0	0
WFS1	7466	broad.mit.edu	37	4	6304104	6304104	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:6304104T>G	uc003giy.3	+	7	2748	c.2582T>G	c.(2581-2583)gTg>gGg	p.V861G	WFS1_uc003gix.3_Missense_Mutation_p.V861G|WFS1_uc003giz.3_Missense_Mutation_p.V679G	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	861					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCGGCACGTGAAGATCGAG	0.627000														163			18		0	0	0.00121646	0	0
DNAH8	1769	broad.mit.edu	37	6	38783319	38783319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:38783319G>A	uc021yzh.1	+	25	3518	c.3409G>A	c.(3409-3411)Gga>Aga	p.G1137R	DNAH8_uc003ooe.2_Missense_Mutation_p.G920R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTCAGCAGAGGAGTGGCTCA	0.483000														26			5		0	0	0.000602214	0	0
WNK4	65266	broad.mit.edu	37	17	40933268	40933268	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:40933268C>T	uc002ibj.3	+	0	620	c.552C>T	c.(550-552)tcC>tcT	p.S184S	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	184	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GACGTGGCTCCTTCAAGACGG	0.622000														51			14		0	0	0.00185496	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834439	125834439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:125834439C>T	uc001uhe.1	+	1	502	c.494C>T	c.(493-495)cCt>cTt	p.P165L	TMEM132B_uc021rgl.1_Missense_Mutation_p.P55L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	165						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGCTTTCCCTGAGGCCAGG	0.582000														71			6		0	0	8.12818e-05	0	0
USP26	83844	broad.mit.edu	37	X	132159790	132159790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:132159790C>T	uc011mvf.2	-	0	2511	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	USP26_uc010nrm.1_Missense_Mutation_p.G820E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	820					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGTATGATCTCCCTTATCATC	0.383000														42			5		0	0	0.00116845	0	0
PSG8	440533	broad.mit.edu	37	19	43262261	43262261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43262261G>A	uc002ouo.2	-	2	700	c.602C>T	c.(601-603)aCc>aTc	p.T201I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.T201I|PSG8_uc010ein.3_Missense_Mutation_p.T79I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	201	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TAGAAAGAGGGTCCTGTTGGT	0.517000														202			17		0	0	0.000566183	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430974	37430974	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:37430974C>T	uc021ppc.1	+	6	1080	c.981C>T	c.(979-981)atC>atT	p.I327I	ANKRD30A_uc001iza.1_Silent_p.I327I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	383						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I327I(2)|p.I327N(1)|p.K326N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.433000														75			12		0	0	0.00185496	0	0
BCAS1	8537	broad.mit.edu	37	20	52583487	52583487	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:52583487T>A	uc002xws.2	-	8	1646	c.1308A>T	c.(1306-1308)gaA>gaT	p.E436D	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.E384D|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.E422D|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	436						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGGTTTGCTTTCTTCTCTTT	0.453000														166			13		0	0	0.000422831	0	0
PRSS57	400668	broad.mit.edu	37	19	694959	694959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:694959C>T	uc002lpl.1	-	1	122	c.91G>A	c.(91-93)Ggg>Agg	p.G31R	PRSS57_uc010xfs.1_Missense_Mutation_p.G30R	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	Homo sapiens protease, serine, 57 (PRSS57), mRNA.	31					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						ATCTGGGCCCCCCAGGAGCCT	0.687000														4			3		0	0	0.00024832	0	0
CDCP2	200008	broad.mit.edu	37	1	54605385	54605385	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:54605385C>T	uc001cwv.1	-	3	2006	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	386						extracellular region		p.E385K(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCAAAGCCTCCCCTTCGCCCT	0.612000														27			5		0	0	8.12818e-05	0	0
SAMD9	54809	broad.mit.edu	37	7	92734352	92734352	+	Silent	SNP	C	T	T	rs145911444	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92734352C>T	uc003umf.3	-	2	1329	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	SAMD9_uc003umg.3_Silent_p.T353T|SAMD9_uc022ahg.1_Silent_p.T353T	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	353						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTATTTTTCGTAATGTCCT	0.318000														92			33		0	0	0.000409698	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523475	42523475	+	Missense_Mutation	SNP	C	T	T	rs75386357	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:42523475C>T	uc003bce.3	-	6	1237	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.E77K|CYP2D6_uc003bcf.3_Missense_Mutation_p.E332K	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	383							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCTGTACTTCGATGTCACGG	0.617000														19			5		0	0	8.12818e-05	0	0
SYT4	6860	broad.mit.edu	37	18	40851750	40851750	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:40851750G>A	uc002law.3	-	2	1266	c.897C>T	c.(895-897)tcC>tcT	p.S299S	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Silent_p.S281S	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	299	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTTGTGGTGGACTGATAGC	0.393000														45			7		0	0	0.000157383	0	0
BIRC8	112401	broad.mit.edu	37	19	53793465	53793465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53793465G>A	uc002qbk.3	-	0	1411	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	55					apoptosis		zinc ion binding	p.P55T(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGTTCCCAAGGATCTTCCTTG	0.433000														55			9		0	0	0.000442599	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258246	45258246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:45258246C>T	uc003bfd.3	+	16	1980	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.S480F|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.S411F|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.S389F|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.S358F|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CAGGGGGTCTCCTCCCTGAGT	0.557000														51			7		0	0	0.000157383	0	0
ABCA13	154664	broad.mit.edu	37	7	48411920	48411920	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:48411920T>A	uc003toq.2	+	32	10983	c.10959T>A	c.(10957-10959)ttT>ttA	p.F3653L	ABCA13_uc010kys.1_Missense_Mutation_p.F727L|ABCA13_uc003tos.1_Missense_Mutation_p.F479L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3653					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTCCTCTTTCTCTTGGATT	0.458000														157			11		0	0	0.00185496	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761588	13761588	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13761588G>A	uc001rbt.2	-	8	2138	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	653					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTGGATCATGAAGGCAGCTA	0.498000														25			5		0	0	0.000602214	0	0
ASMTL	8623	broad.mit.edu	37	X	1531636	1531636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:1531636C>T	uc004cpx.2	-	11	1771	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	CRLF2_uc022brt.1_Intron|ASMTL-AS1_uc004cpv.3_Splice_Site|ASMTL-AS1_uc004cpw.3_Splice_Site|ASMTL_uc004cpy.2_Missense_Mutation_p.S529N|ASMTL_uc011mhe.2_Missense_Mutation_p.S469N|ASMTL_uc011mhf.2_Missense_Mutation_p.S487N	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	545	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCTTGCAGCTCTCGGCGAC	0.572000														194			46		0	0	0.000781405	0	0
CRX	1406	broad.mit.edu	37	19	48342764	48342765	+	Missense_Mutation	DNP	CC	TT	TT	rs147422878		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48342764_48342765CC>TT	uc002phq.4	+	3	644_645	c.440_441CC>TT	c.(439-441)ccc>cTT	p.P147L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	147			Missing (in LCA7).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L146L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCCCTCTGCCCGGCCCCTCAG	0.673000														45			8		0	0	6.4e-05	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379265	23379265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:23379265C>T	uc002dln.3	+	4	1041	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	289					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCGGCCAACCCTGGAACTGA	0.493000														90			7		0	0	0.000274275	0	0
ABCB5	340273	broad.mit.edu	37	7	20725388	20725388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:20725388C>T	uc010kuh.3	+	15	2176	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S	ABCB5_uc003suw.4_Missense_Mutation_p.P202S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	202	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.Q647K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAACTCACTTCCTCTGCACTC	0.388000														42			10		0	0	0.000673444	0	0
PCLO	27445	broad.mit.edu	37	7	82785521	82785521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82785521C>T	uc003uhx.2	-	1	725	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	PCLO_uc003uhv.2_Missense_Mutation_p.E146K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	146					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGCTCTTCCTTTAAATCA	0.403000														96			6		0	0	0.00116845	0	0
OR4K14	122740	broad.mit.edu	37	14	20482453	20482453	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:20482453C>T	uc010tky.2	-	0	900	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGCAGTTTCTTCATAGCTG	0.373000														164			17		0	0	0.00152264	0	0
LILRP2	79166	broad.mit.edu	37	19	55222142	55222142	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55222142C>T	uc002qgs.1	+	0		c.2542C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCAGATTCTTCCCCTACCTGC	0.617000														41			8		0	0	0.000442599	0	0
ZNF234	10780	broad.mit.edu	37	19	44661953	44661953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44661953C>T	uc002oym.3	+	5	2091	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L	ZNF234_uc002oyl.4_Missense_Mutation_p.P595L	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAGAAAAACCCTATACATGT	0.483000														64			6		0	0	0.00116845	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414278	61414278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:61414278C>T	uc010qig.1	-	4	955	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	169					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCAAGCATCCATCCAGTCC	0.438000														106			8		0	0	0.00136819	0	0
NRXN1	9378	broad.mit.edu	37	2	50280421	50280421	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:50280421T>G	uc021vhh.1	-	18	4947	c.4026A>C	c.(4024-4026)gaA>gaC	p.E1342D	NRXN1_uc010fbp.3_Missense_Mutation_p.E307D|NRXN1_uc002rxb.4_Missense_Mutation_p.E1044D|NRXN1_uc021vhg.1_Missense_Mutation_p.E1412D|NRXN1_uc021vhi.1_Missense_Mutation_p.E1408D|NRXN1_uc021vhj.1_Missense_Mutation_p.E1338D	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1342					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTAATGGGTTCTTTTGTCG	0.443000														52			8		0	0	0.000673444	0	0
MYO15A	51168	broad.mit.edu	37	17	18030452	18030452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:18030452G>A	uc021trm.1	+	5	4224	c.4005G>A	c.(4003-4005)atG>atA	p.M1335I	MYO15A_uc021trl.1_Missense_Mutation_p.M1335I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1335	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCCGCCATGAACCAGAAAC	0.567000														26			5		0	0	0.00116845	0	0
NLRP5	126206	broad.mit.edu	37	19	56545069	56545069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56545069C>T	uc002qmj.3	+	8	2609	c.2609C>T	c.(2608-2610)tCt>tTt	p.S870F	NLRP5_uc002qmi.3_Missense_Mutation_p.S851F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	870						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGTTGGAGTCTTTGAGGTAC	0.413000														270			17		0	0	0.00152264	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27175149	27175149	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:27175149C>T	uc001bnb.3	+	2	642	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	BC016143_uc021ojq.1_Intron|ZDHHC18_uc010ofh.1_Silent_p.L48L	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	183						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCGGGAGGTGCTGATCAACGG	0.597000														54			6		0	0	0.000274275	0	0
BHMT2	23743	broad.mit.edu	37	5	78373364	78373364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:78373364C>T	uc003kft.3	+	1	154	c.95C>T	c.(94-96)aCt>aTt	p.T32I	BHMT2_uc011cth.2_Missense_Mutation_p.T32I	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	32	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TTTCTCATTACTCTGGAGAAG	0.522000														124			15		0	0	0.000308642	0	0
NFXL1	152518	broad.mit.edu	37	4	47912954	47912954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:47912954C>T	uc010igh.3	-	2	470	c.293G>A	c.(292-294)aGa>aAa	p.R98K	NFXL1_uc003gxp.3_Missense_Mutation_p.R98K|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.R98K	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	98						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AACAAGTTTTCTGGCTGCAGC	0.328000														59			12		0	0	0.00185496	0	0
CNTN6	27255	broad.mit.edu	37	3	1262427	1262427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:1262427C>T	uc003boz.3	+	2	379	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CNTN6_uc010hbo.2_Missense_Mutation_p.P33S|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Missense_Mutation_p.P38S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	38	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTCATTTTTCCTTTGGATTT	0.398000														87			10		0	0	0.000978159	0	0
FAM181A	90050	broad.mit.edu	37	14	94394706	94394706	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94394706G>A	uc001ybz.2	+	2	586	c.261G>A	c.(259-261)ctG>ctA	p.L87L	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.L25L|FAM181A_uc021saz.1_Silent_p.L25L|FAM181A_uc010aus.2_Silent_p.L25L|FAM181A_uc001yca.2_Silent_p.L25L	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	87										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGGCAGCCCTGGATAAGTCCG	0.622000														24			5		0	0	0.00116845	0	0
PRAM1	84106	broad.mit.edu	37	19	8562714	8562714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8562714C>T	uc002mkd.3	-	3	1573	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	552	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGTAGATCTCATCTGGGACC	0.507000														58			7		0	0	0.000274275	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887678	30887678	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30887678C>T	uc003aid.2	-	10	1063	c.963G>A	c.(961-963)aaG>aaA	p.K321K	SEC14L4_uc011akz.1_Silent_p.K321K|SEC14L4_uc003aie.2_Silent_p.K306K|SEC14L4_uc003aif.2_Silent_p.K267K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	321	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCATCTTGGTCTTCAGGAAAA	0.617000														48			12		0	0	0.000219431	0	0
PSG3	5671	broad.mit.edu	37	19	43372344	43372344	+	Silent	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43372344A>T	uc002ovd.1	-	4	1290	c.1152T>A	c.(1150-1152)atT>atA	p.I384I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.I291I|PSG3_uc002ova.2_Silent_p.I291I|PSG3_uc002ouz.2_Silent_p.I384I|PSG3_uc002ovb.3_Silent_p.I384I	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	384	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTTTGTAGTAATATGGCGGA	0.458000														135			36		0	0	0.00128727	0	0
OR2F1	26211	broad.mit.edu	37	7	143657992	143657992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143657992G>A	uc003wds.1	+	0	973	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAATTCTCTGGGTTAACATCA	0.428000														33			5		0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3248289C>T	uc004crg.4	-	3	636	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	160						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGAGATTTCCTTCCAAATG	0.468000														14			8		0	0	0.000442599	0	0
TANC1	85461	broad.mit.edu	37	2	160035431	160035431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:160035431C>T	uc002uag.3	+	13	2541	c.2267C>T	c.(2266-2268)cCg>cTg	p.P756L	TANC1_uc010fol.1_Missense_Mutation_p.P650L|TANC1_uc010zcm.2_Missense_Mutation_p.P748L|TANC1_uc010fom.1_Missense_Mutation_p.P562L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	756						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGGCACTTCCGATTCTCAAC	0.552000														144			14		0	0	0.000958276	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761868	130761868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:130761868G>A	uc003qcb.3	+	1	2679	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TMEM200A_uc003qca.3_Missense_Mutation_p.E101K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E101K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E101K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E101K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	101						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCAACAAATGAAACTCAGGT	0.433000														87			21		0	0	0.000375601	0	0
XIST	7503	broad.mit.edu	37	X	73064279	73064279	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:73064279G>A	uc004ebm.1	-	0		c.8310C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGCCTCAGTGATCAGCACCC	0.438000														12			8		0	0	0.000274275	0	0
MAMDC2	256691	broad.mit.edu	37	9	72659125	72659125	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:72659125G>A	uc004ahm.2	+	0	629	c.12G>A	c.(10-12)agG>agA	p.R4R	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	4						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGCTGTTAAGGGGCGTCCTCC	0.677000														12			5		0	0	8.12818e-05	0	0
LIMCH1	22998	broad.mit.edu	37	4	41496583	41496583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:41496583G>A	uc003gvu.4	+	1	181	c.127G>A	c.(127-129)Gat>Aat	p.D43N	LIMCH1_uc003gvt.1_Intron|LIMCH1_uc003gwe.4_Missense_Mutation_p.D43N|LIMCH1_uc003gvv.4_Missense_Mutation_p.D43N|LIMCH1_uc003gvw.4_Missense_Mutation_p.D43N|LIMCH1_uc003gvx.4_Missense_Mutation_p.D43N|LIMCH1_uc003gvy.4_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	43	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGGTGATAAAGATTTTCGGAC	0.308000														159			11		0	0	0.00185496	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882851	228882851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228882851C>T	uc002vpq.2	-	6	2766	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D907N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D907N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	907						cytoplasm	protein binding	p.D906N(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCAGCAGGTCATCCCCTAAC	0.488000														126			36		0	0	0.000953801	0	0
PANK4	55229	broad.mit.edu	37	1	2452230	2452230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:2452230G>A	uc001ajm.1	-	3	547	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	PANK4_uc010nza.1_Nonsense_Mutation_p.Q141*	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	180					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGGTTGGTCTGGAACCGGAAC	0.522000														75			11		0	0	0.000673444	0	0
FAM5B	57795	broad.mit.edu	37	1	177249609	177249609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:177249609C>T	uc001glf.3	+	7	1609	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	FAM5B_uc001glg.3_Missense_Mutation_p.P328S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	433						extracellular region		p.P433S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAGCACCTTTCCTGGCACTTT	0.562000														33			5		0	0	0.000602214	0	0
CD163	9332	broad.mit.edu	37	12	7647788	7647788	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7647788G>A	uc001qsz.3	-	5	1437	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	CD163_uc001qta.3_Silent_p.L437L|CD163_uc009zfw.2_Silent_p.L437L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	437	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTTAGAAACAGCCATGTGTTT	0.438000														71			12		0	0	0.00136819	0	0
MMEL1	79258	broad.mit.edu	37	1	2537693	2537693	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:2537693G>A	uc001ajy.2	-	7	958	c.744C>T	c.(742-744)atC>atT	p.I248I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	248					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTACGTAGATGATGTGCCGGC	0.642000														57			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9088834	9088834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9088834G>A	uc002mkp.3	-	0	3185	c.2981C>T	c.(2980-2982)gCt>gTt	p.A994V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	994	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTACAGTAGCAGAGAGAGA	0.478000														158			34		0	0	0.000953801	0	0
TSFM	10102	broad.mit.edu	37	12	58180876	58180876	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:58180876C>T	uc001sqi.3	+	3	471	c.414C>T	c.(412-414)gtC>gtT	p.V138V	TSFM_uc021qzq.1_Silent_p.V138V|TSFM_uc001sqh.3_Silent_p.V138V|TSFM_uc010ssf.2_Silent_p.V138V|TSFM_uc010sse.2_Silent_p.V98V	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	138					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AACTGTTGGTCCAGCAAGTAG	0.378000														22			4		0	0	0.000602214	0	0
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:137814593G>A	uc002tva.1	+	1	650	c.650G>A	c.(649-651)tGg>tAg	p.W217*	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Nonsense_Mutation_p.W107*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413000														126			10		0	0	0.000978159	0	0
SCN11A	11280	broad.mit.edu	37	3	38961476	38961476	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38961476C>T	uc021wvy.1	-	6	1108	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	303					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATTTTCTTTCTTTTCAAAGC	0.338000														74			5		0	0	0.000602214	0	0
DLG5	9231	broad.mit.edu	37	10	79566529	79566529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79566529G>A	uc001jzk.3	-	25	5024	c.4954C>T	c.(4954-4956)Ccc>Tcc	p.P1652S	DLG5_uc001jzi.3_Missense_Mutation_p.P407S|DLG5_uc001jzj.3_Missense_Mutation_p.P1067S|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1652	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.P1652L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TATTTGCTGGGAATCTGCCCG	0.642000														54			7		0	0	0.000442599	0	0
EPHA4	2043	broad.mit.edu	37	2	222347190	222347190	+	Silent	SNP	G	A	A	rs55713430		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:222347190G>A	uc002vmq.3	-	4	1242	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	EPHA4_uc002vmr.2_Silent_p.I400I|EPHA4_uc010zlm.1_Silent_p.I341I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	400	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S399F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGAGGTCAGTGATGGAGACTT	0.502000														231			21		0	0	0.000375601	0	0
TNIP2	79155	broad.mit.edu	37	4	2746545	2746545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:2746545G>A	uc003gfg.2	-	3	872	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TNIP2_uc003gff.2_Missense_Mutation_p.S155F	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	262						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTTGAGCCGGGAGATCTCCTT	0.622000														67			7		0	0	0.000274275	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436411	5436411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:5436411C>T	uc001ihy.3	-	3	448	c.410G>A	c.(409-411)gGt>gAt	p.G137D	TUBAL3_uc001ihz.3_Missense_Mutation_p.G97D	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	137					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTGAAGTCCACCACACTGTTC	0.443000														49			9		0	0	0.000673444	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974861	32974861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32974861G>A	uc003ocr.3	-	3	821	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	249					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTGCACCTGGGGACACTGGAC	0.617000														72			6		0	0	8.12818e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54305180	54305180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54305180G>A	uc021smr.1	+	0	80	c.80G>A	c.(79-81)gGa>gAa	p.G27E	UNC13C_uc021sms.1_Missense_Mutation_p.G27E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	27					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAAATTGGGAAATACAAAC	0.368000														48			10		0	0	0.000673444	0	0
PLOD1	5351	broad.mit.edu	37	1	12030738	12030738	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12030738C>T	uc010obb.2	+	17	2021	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	PLOD1_uc001atm.3_Silent_p.I589I	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	589	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACAACCGCATCCAGGGTGGCT	0.557000														37			5		0	0	0.00116845	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453552	143453552	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143453552C>T	uc003wdk.4	-	0	1292	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	400						integral to membrane											CTGTTAATTTCCTATAGAGTT	0.348000														145			7		0	0	8.12818e-05	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894207	63894207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:63894207G>A	uc003jtj.3	+	4	627	c.627G>A	c.(625-627)atG>atA	p.M209I	RGS7BP_uc011cqu.2_Missense_Mutation_p.M76I	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	209					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGAGAGAAATGAAAAACCTTT	0.323000														166			10		0	0	0.000673444	0	0
DNAH7	56171	broad.mit.edu	37	2	196799407	196799407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196799407G>A	uc002utj.4	-	20	3480	c.3379C>T	c.(3379-3381)Ctc>Ttc	p.L1127F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1127	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCTATGAGTTCTACAACC	0.403000														117			15		0	0	0.000422831	0	0
CNGA4	1262	broad.mit.edu	37	11	6260704	6260704	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6260704C>T	uc001mco.3	+	1	268	c.153C>T	c.(151-153)atC>atT	p.I51I	CNGA4_uc010raa.2_Silent_p.I11I|CNGA4_uc001mcn.3_Silent_p.I11I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	51					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCATCATCCTCGTGTGCA	0.532000														113			19		0	0	0.000958276	0	0
AHCTF1	25909	broad.mit.edu	37	1	247081627	247081627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:247081627G>A	uc001ibv.2	-	1	170	c.73C>T	c.(73-75)Cca>Tca	p.P25S		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	16	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTCACTTCTGGAAATGGCAGG	0.373000														64			8		0	0	0.000442599	0	0
CECR2	27443	broad.mit.edu	37	22	18016881	18016881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:18016881C>T	uc010gqw.1	+	8	1126	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	CECR2_uc010gqv.1_Missense_Mutation_p.P237S|CECR2_uc002zml.2_Missense_Mutation_p.P237S|CECR2_uc002zmn.3_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	420					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCATCTGGACCCCAATTCCCC	0.463000														77			5		0	0	0.000602214	0	0
HFE	3077	broad.mit.edu	37	6	26093145	26093145	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:26093145G>A	uc003nfx.1	+	3	1009	c.849G>A	c.(847-849)caG>caA	p.Q283Q	HFE_uc003nfy.1_Silent_p.Q260Q|HFE_uc010jqe.1_Silent_p.Q280Q|HFE_uc003nfz.1_Silent_p.Q195Q|HFE_uc003ngd.1_Silent_p.Q181Q|HFE_uc003nga.1_Silent_p.Q269Q|HFE_uc003ngb.1_Silent_p.Q177Q|HFE_uc003ngc.1_Silent_p.Q191Q|HFE_uc003nge.1_Silent_p.Q103Q|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	283	Alpha-3.|Ig-like C1-type.		Q -> P (in HFE; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake).		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACGTGCCAGGTGGAGCACC	0.547000									Hemochromatosis					39			4		0	0	0.00024832	0	0
ZNF677	342926	broad.mit.edu	37	19	53741052	53741052	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53741052G>A	uc002qbg.1	-	4	1079	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	ZNF677_uc002qbf.1_Nonsense_Mutation_p.Q310*	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGGACTCTCTGATGCCTAGTG	0.418000														110			10		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221176	140221176	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140221176C>T	uc003lhs.2	+	0	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I90I	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I90I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.612000														136			25		0	0	0.000409698	0	0
MS4A3	932	broad.mit.edu	37	11	59831769	59831769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59831769G>A	uc001nom.3	+	3	457	c.329G>A	c.(328-330)gGg>gAg	p.G110E	MS4A3_uc001non.3_Missense_Mutation_p.G64E|MS4A3_uc001noo.3_5'UTR	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	110						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GTTGTAGCAGGGATAAAACCC	0.368000														64			13		0	0	0.000958276	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118537	118537	+	RNA	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrGL000205.1:118537T>C	uc002kgk.4	+	0		c.1915T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAAAAATAGATAATCTAAGAG	0.408000														57			6		0	0	0.00116845	0	0
DOCK2	1794	broad.mit.edu	37	5	169494644	169494644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:169494644G>A	uc003maf.3	+	44	4678	c.4598G>A	c.(4597-4599)gGg>gAg	p.G1533E	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.G1025E|DOCK2_uc003mah.3_Missense_Mutation_p.G89E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1533	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTGAACGGGATTGTGGAC	0.532000														59			13		0	0	0.000219431	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353946	77353946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77353946C>T	uc002ffc.4	-	15	2751	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E366K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E474K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	778	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCTGGATTTCGATGCTTCGG	0.522000														64			17		0	0	0.00188189	0	0
CNTN6	27255	broad.mit.edu	37	3	1262377	1262377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:1262377G>A	uc003boz.3	+	2	329	c.62G>A	c.(61-63)gGt>gAt	p.G21D	CNTN6_uc010hbo.2_Missense_Mutation_p.G16D|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Missense_Mutation_p.G21D	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	21					Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCAGGTGATGGTCTTTTAAGC	0.328000														87			8		0	0	0.000274275	0	0
CASR	846	broad.mit.edu	37	3	121980902	121980902	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121980902G>A	uc003eew.4	+	3	1458	c.1020G>A	c.(1018-1020)agG>agA	p.R340R	CASR_uc003eev.4_Silent_p.R340R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	340					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCATCCCAGGAAGTCTGTCC	0.517000														44			6		0	0	8.12818e-05	0	0
CDK19	23097	broad.mit.edu	37	6	110959894	110959894	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:110959894G>A	uc003puh.1	-	4	545	c.472C>T	c.(472-474)Cta>Tta	p.L158L	CDK19_uc003pui.1_Silent_p.L98L|CDK19_uc011eax.1_Silent_p.L34L	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	158	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCCATTACTAGGATATTTGCT	0.303000														231			22		0	0	0.000586117	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486511	133486512	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:133486511_133486512GG>TT	uc002ttp.3	-	17	5831_5832	c.5457_5458CC>AA	c.(5455-5460)tcccaa>tcAAaa	p.Q1820K	NCKAP5_uc002ttq.3_Missense_Mutation_p.Q501K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1820							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTGCTTTTGGGAACTGACTT	0.475000														279			10		0	0	6.4e-05	0	0
GABRA2	2555	broad.mit.edu	37	4	46305601	46305601	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:46305601G>A	uc011bzc.1	-	6	979	c.567C>T	c.(565-567)ttC>ttT	p.F189F	GABRA2_uc003gxc.3_Silent_p.F244F|GABRA2_uc010igc.2_Silent_p.F244F|GABRA2_uc003gxe.3_Silent_p.F244F			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	244					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTCAGGTGGAAATGAGCTG	0.353000														71			17		0	0	0.000566183	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914887	54914887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:54914887G>A	uc003dhf.3	+	20	1957	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E543K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E371K|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	637						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AACCATCGAAGAAGGTAAGAT	0.478000														160			23		0	0	0.00106085	0	0
MUSK	4593	broad.mit.edu	37	9	113530113	113530113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:113530113G>A	uc022blv.1	+	8	1068	c.934G>A	c.(934-936)Gat>Aat	p.D312N	MUSK_uc022blt.1_Silent_p.K309K|MUSK_uc004bez.2_Intron|MUSK_uc022blu.1_Intron	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	312	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCACAGAAAGATAACAAAGG	0.403000														56			17		0	0	0.00188189	0	0
JAG1	182	broad.mit.edu	37	20	10625538	10625538	+	Missense_Mutation	SNP	C	T	T	rs6032913		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:10625538C>T	uc002wnw.2	-	17	2833	c.2317G>A	c.(2317-2319)Ggc>Agc	p.G773S	JAG1_uc010gcd.1_Missense_Mutation_p.G331S	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	773	EGF-like 14.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity	p.E772V(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCTCCCAGCCTTCCTTGCAG	0.582000									Alagille Syndrome					95			25		0	0	0.00106085	0	0
MGEA5	10724	broad.mit.edu	37	10	103557835	103557835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:103557835G>A	uc001ktv.2	-	9	2329	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Missense_Mutation_p.S576F|MGEA5_uc009xws.2_Missense_Mutation_p.S576F|MGEA5_uc001ktw.2_Missense_Mutation_p.S629F	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	629	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGCACAATTGGAGAGCCGAGT	0.403000														67			5		0	0	0.00116845	0	0
ROR2	4920	broad.mit.edu	37	9	94486555	94486555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:94486555C>T	uc004arj.2	-	8	2420	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	ROR2_uc004ari.1_Missense_Mutation_p.D601N	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	741	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGGATGTCCTTGAAGCGG	0.662000														47			11		0	0	0.000978159	0	0
TRIM42	287015	broad.mit.edu	37	3	140409883	140409883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:140409883C>T	uc003eto.2	+	3	2140	c.1934C>T	c.(1933-1935)cCt>cTt	p.P645L		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	645	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACTTCTCCTCCTAACAACGTA	0.428000														72			10		0	0	0.00185496	0	0
KCND3	3752	broad.mit.edu	37	1	112319760	112319760	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:112319760T>C	uc001ebu.1	-	6	2134	c.1654A>G	c.(1654-1656)Aag>Gag	p.K552E	KCND3_uc001ebv.1_Missense_Mutation_p.K533E	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	552						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTGGTCTTCTTACTACGACGG	0.572000														47			7		0	0	0.000274275	0	0
TAS2R50	259296	broad.mit.edu	37	12	11138916	11138916	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11138916G>A	uc001qzl.2	-	0	596	c.544C>T	c.(544-546)Cta>Tta	p.L182L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	Homo sapiens taste receptor, type 2, member 50 (TAS2R50), mRNA.	182					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAGCTCCATAGGGTAGTTACA	0.403000														71			7		0	0	8.12818e-05	0	0
ITIH1	3697	broad.mit.edu	37	3	52816987	52816987	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:52816987C>T	uc003dfs.3	+	8	975	c.945C>T	c.(943-945)ctC>ctT	p.L315L	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.L173L|ITIH1_uc021wzg.1_Silent_p.L27L|ITIH1_uc021wzh.1_Silent_p.L27L|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	315	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGGAGGCACTCCTTAAAATTC	0.542000														66			7		0	0	0.000274275	0	0
TRPC7	57113	broad.mit.edu	37	5	135587384	135587384	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:135587384G>C	uc003lbn.2	-	5	1754	c.1532C>G	c.(1531-1533)aCg>aGg	p.T511R	TRPC7_uc010jef.2_Missense_Mutation_p.T447R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.T62R|TRPC7_uc010jeh.2_Missense_Mutation_p.T450R|TRPC7_uc010jei.2_Missense_Mutation_p.T395R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	511					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGTGCAGCGTGTCGTCCTG	0.602000														26			4		0	0	0.000602214	0	0
C10orf28	27291	broad.mit.edu	37	10	99968076	99968076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:99968076C>T	uc001kox.4	+	4	555	c.205C>T	c.(205-207)Cga>Tga	p.R69*	C10orf28_uc001kow.4_Nonsense_Mutation_p.R69*|C10orf28_uc001koy.4_Nonsense_Mutation_p.R69*|C10orf28_uc009xvx.3_Nonsense_Mutation_p.R69*|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	69							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		ACCGGAGGCTCGAAGACTAAA	0.353000														106			12		0	0	0.000219431	0	0
DNAH7	56171	broad.mit.edu	37	2	196720694	196720695	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196720694_196720695GG>TT	uc002utj.4	-	44	8536_8537	c.8435_8436CC>AA	c.(8434-8436)ccc>cAA	p.P2812Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2812	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATCTTTTTGGGAGCTACTAT	0.361000														128			7		0	0	6.4e-05	0	0
C14orf102	55051	broad.mit.edu	37	14	90769098	90769098	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:90769098G>A	uc001xyi.2	-	5	1610	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.2_Silent_p.H228H	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	459							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GCAACGCAGGGTGAGATAAGA	0.433000														52			5		0	0	0.000602214	0	0
IGSF10	285313	broad.mit.edu	37	3	151154752	151154752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151154752G>A	uc011bod.2	-	5	7597	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	IGSF10_uc011bob.2_Missense_Mutation_p.R560C|IGSF10_uc011boc.2_Missense_Mutation_p.R512C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2533	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGTGGACGATTTGTAATT	0.483000														56			7		0	0	0.000274275	0	0
OR51A7	119687	broad.mit.edu	37	11	4929499	4929499	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4929499G>A	uc010qyq.2	+	0	900	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATCTGGGAGAAGATCTTGG	0.398000														52			12		0	0	0.00185496	0	0
DNAH7	56171	broad.mit.edu	37	2	196774764	196774764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196774764C>T	uc002utj.4	-	24	4192	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1364	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G1364G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAATTTTCCCAAAGCCAA	0.358000														36			4		0	0	0.000602214	0	0
PTPN22	26191	broad.mit.edu	37	1	114394720	114394720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:114394720G>A	uc001eds.3	-	9	887	c.757C>T	c.(757-759)Cct>Tct	p.P253S	PTPN22_uc021orx.1_Missense_Mutation_p.P253S|PTPN22_uc009wgq.3_Intron|PTPN22_uc021ory.1_Missense_Mutation_p.P229S|PTPN22_uc010owo.2_Missense_Mutation_p.P9S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P253S|PTPN22_uc009wgs.2_Missense_Mutation_p.P126S|PTPN22_uc001edu.2_Missense_Mutation_p.P253S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	253	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTTCTCAGGAATTATCTAT	0.353000														45			7		0	0	8.12818e-05	0	0
LIG3	3980	broad.mit.edu	37	17	33325259	33325259	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:33325259A>T	uc002hik.2	+	12	2062	c.1933A>T	c.(1933-1935)Atg>Ttg	p.M645L	LIG3_uc002hij.3_Missense_Mutation_p.M645L	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	645					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.G644E(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTTGGCTGACATGATAACCCG	0.542000								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			11		0	0	0.000308642	0	0
YTHDC1	91746	broad.mit.edu	37	4	69184272	69184272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69184272G>A	uc003hdx.3	-	14	2142	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	YTHDC1_uc003hdy.3_Missense_Mutation_p.H579Y	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	597										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCCATGTTATGAAATTCCCTC	0.303000														65			9		0	0	0.000673444	0	0
CNN1	1264	broad.mit.edu	37	19	11657667	11657667	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:11657667C>T	uc002msc.1	+	3	437	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CNN1_uc010xmb.1_Silent_p.F41F|CNN1_uc010xmc.1_Silent_p.F41F	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	91	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TCGGCAACTTCATCAAGGCCA	0.572000														32			10		0	0	0.000673444	0	0
GPR98	84059	broad.mit.edu	37	5	90012354	90012354	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:90012354C>T	uc003kju.3	+	42	9351	c.9255C>T	c.(9253-9255)ttC>ttT	p.F3085F	GPR98_uc003kjt.3_Silent_p.F791F|GPR98_uc003kjv.3_Silent_p.F685F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3085					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCACTTTTTCCTAAGAGAGC	0.408000														48			5		0	0	0.000602214	0	0
CTNND1	1500	broad.mit.edu	37	11	57577669	57577669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57577669G>A	uc001nmc.4	+	15	3095	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	CTNND1_uc001nlf.2_Missense_Mutation_p.E842K|CTNND1_uc021qjk.1_Missense_Mutation_p.E836K|CTNND1_uc001nlh.1_Missense_Mutation_p.E842K|CTNND1_uc001nlj.4_Missense_Mutation_p.E782K|CTNND1_uc001nlq.4_Missense_Mutation_p.E741K|CTNND1_uc001nlr.4_Missense_Mutation_p.E782K|CTNND1_uc001nln.4_Missense_Mutation_p.E836K|CTNND1_uc001nli.4_Missense_Mutation_p.E836K|CTNND1_uc001nlo.4_Missense_Mutation_p.E735K|CTNND1_uc001nlp.4_Missense_Mutation_p.E782K|CTNND1_uc001nlu.4_Missense_Mutation_p.E735K|CTNND1_uc001nlt.4_Missense_Mutation_p.E735K|CTNND1_uc001nlv.4_Missense_Mutation_p.E735K|CTNND1_uc001nls.4_Missense_Mutation_p.E735K|CTNND1_uc001nlw.4_Missense_Mutation_p.E735K|CTNND1_uc001nmf.4_Missense_Mutation_p.E842K|CTNND1_uc001nlx.4_Missense_Mutation_p.E519K|CTNND1_uc001nlz.4_Missense_Mutation_p.E519K|CTNND1_uc009ymn.3_Missense_Mutation_p.E513K|CTNND1_uc001nly.4_Missense_Mutation_p.E513K|CTNND1_uc001nmb.4_Missense_Mutation_p.E513K|CTNND1_uc001nma.4_Missense_Mutation_p.E513K|CTNND1_uc001nmd.4_Missense_Mutation_p.E788K|CTNND1_uc001nlk.4_Missense_Mutation_p.E788K|CTNND1_uc001nme.4_Missense_Mutation_p.E836K|CTNND1_uc001nll.4_Missense_Mutation_p.E782K|CTNND1_uc001nlm.4_Missense_Mutation_p.E836K|CTNND1_uc001nmi.4_Missense_Mutation_p.E741K|CTNND1_uc001nmg.4_Missense_Mutation_p.E782K|CTNND1_uc001nmh.4_Missense_Mutation_p.E836K	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	842					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACTGGAAAAAGAAGGATGGAA	0.403000														52			7		0	0	0.000274275	0	0
KALRN	8997	broad.mit.edu	37	3	123987691	123987691	+	Silent	SNP	C	T	T	rs140029739	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123987691C>T	uc003ehg.3	+	4	679	c.552C>T	c.(550-552)atC>atT	p.I184I	KALRN_uc010hrv.1_Silent_p.I184I|KALRN_uc003ehf.1_Silent_p.I184I|KALRN_uc011bjy.1_Silent_p.I184I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	184					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAGTGGATCGAACTGCGGC	0.607000														29			8		0	0	0.000157383	0	0
XRCC4	7518	broad.mit.edu	37	5	82400780	82400780	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:82400780C>T	uc003kib.3	+	1	170	c.42C>T	c.(40-42)ccC>ccT	p.P14P	XRCC4_uc003kia.1_Silent_p.P14P|XRCC4_uc003kic.3_Silent_p.P14P|XRCC4_uc003kid.3_Silent_p.P14P|XRCC4_uc003kie.3_Silent_p.P14P	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	14					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTCTGAACCCAGTATAACTC	0.343000								Non-homologous end-joining						59			11		0	0	0.000978159	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208206	104208206	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:104208206G>A	uc001yof.1	-	10	2026	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Silent_p.S448S	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	581	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAGGTACATGGAGTATATGG	0.498000														78			10		0	0	0.00136819	0	0
VWA5A	4013	broad.mit.edu	37	11	124016019	124016019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124016019G>A	uc001pzu.3	+	17	2439	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	VWA5A_uc001pzt.3_Missense_Mutation_p.E744K	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	744										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTTGAAGTGTGAATGGGAGCT	0.582000														72			9		0	0	0.000274275	0	0
MGAM	8972	broad.mit.edu	37	7	141797419	141797419	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141797419C>T	uc003vwy.3	+	42	5085	c.5031C>T	c.(5029-5031)ttC>ttT	p.F1677F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1677	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCATATTTCCCTAGAGCCC	0.393000														48			12		0	0	0.000219431	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758033	15758033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15758033G>A	uc010xok.2	+	4	474	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	CYP4F3_uc010xol.2_Missense_Mutation_p.E142K|CYP4F3_uc002nbj.3_Missense_Mutation_p.E142K|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.E142K|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	142					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGTGCTGGTGAAAAGTGGAG	0.577000														43			11		0	0	0.000978159	0	0
OTOA	146183	broad.mit.edu	37	16	21747658	21747658	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:21747658T>G	uc002djh.3	+	20	2379	c.2378T>G	c.(2377-2379)tTt>tGt	p.F793C	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.F714C|OTOA_uc002dji.3_Missense_Mutation_p.F469C|OTOA_uc010vbk.2_Missense_Mutation_p.F441C	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	807					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGGCTGTCTTTCAGTCTGTT	0.468000														92			10		0	0	0.000978159	0	0
CACNA1E	777	broad.mit.edu	37	1	181686297	181686297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181686297G>A	uc009wxt.3	+	10	1579	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CACNA1E_uc001gow.3_Missense_Mutation_p.E462K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E462K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	462					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCACAAGGAAAGGCTTCT	0.512000														75			13		0	0	0.00185496	0	0
GPR35	2859	broad.mit.edu	37	2	241570128	241570128	+	Silent	SNP	G	A	A	rs147827675		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:241570128G>A	uc010fzi.2	+	5	1724	c.852G>A	c.(850-852)acG>acA	p.T284T	GPR35_uc010fzh.2_Silent_p.T284T|GPR35_uc021vze.1_Silent_p.T253T|GPR35_uc002vzs.2_Silent_p.T253T	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	253						integral to plasma membrane	G-protein coupled receptor activity	p.T253T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCCTGGAGACGATCCGTCGCG	0.627000														49			8		0	0	0.000274275	0	0
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62293185G>A	uc001dab.3	+	15	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_uc009waf.1_Missense_Mutation_p.R637Q|INADL_uc001daa.2_Missense_Mutation_p.R637Q|INADL_uc001dad.3_Missense_Mutation_p.R334Q|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443000														147			10		0	0	0.000673444	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168344	19168344	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:19168344G>A	uc001bba.1	-	4	1471	c.1470C>T	c.(1468-1470)atC>atT	p.I490I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	490					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGACATAGGGATCTGGAGGG	0.592000														63			10		0	0	0.00185496	0	0
DICER1	23405	broad.mit.edu	37	14	95593075	95593075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:95593075G>A	uc001ydw.2	-	7	957	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	DICER1_uc021sbc.1_Nonsense_Mutation_p.Q249*|DICER1_uc001ydv.2_Nonsense_Mutation_p.Q239*|DICER1_uc001ydx.2_Nonsense_Mutation_p.Q249*	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	249					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.S248C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCACATGGCTGAGAAGTATAC	0.323000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					153			20		0	0	0.000375601	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395665	31395665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31395665C>T	uc002wyc.3	+	22	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_uc002wyd.3_Nonsense_Mutation_p.R820*|DNMT3B_uc002wye.3_Nonsense_Mutation_p.R757*|DNMT3B_uc010ztz.2_Nonsense_Mutation_p.R715*|DNMT3B_uc010zua.2_Nonsense_Mutation_p.R681*|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Nonsense_Mutation_p.R832*|DNMT3B_uc002wyg.3_Nonsense_Mutation_p.R476*|DNMT3B_uc010geg.3_Missense_Mutation_p.P99L|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602000														71			16		0	0	0.000958276	0	0
MYH8	4626	broad.mit.edu	37	17	10309672	10309672	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10309672G>A	uc002gmm.2	-	19	2309	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	738	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTGTCAATGAACTGTCCCT	0.338000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					43			10		0	0	0.000673444	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754684	93754684	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:93754684G>A	uc001pep.2	+	0	307	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	50	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTATTACTGGGAAAAGTTTCA	0.453000														108			12		0	0	0.000308642	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605190	142605190	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:142605190C>T	uc004fbw.3	-	0	118	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	10										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCTTCTCCCCATTGGTGC	0.448000														67			9		0	0	0.000442599	0	0
CASS4	57091	broad.mit.edu	37	20	55012399	55012399	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:55012399G>A	uc002xxp.2	+	2	441	c.216G>A	c.(214-216)acG>acA	p.T72T	CASS4_uc002xxq.4_Silent_p.T72T|CASS4_uc010zze.1_Silent_p.T72T|CASS4_uc002xxr.2_Silent_p.T72T|CASS4_uc010gio.2_Silent_p.T72T	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAATCCTCACGGAGGTCGCTG	0.627000														21			9		0	0	0.000442599	0	0
TEX13A	56157	broad.mit.edu	37	X	104464406	104464406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:104464406C>T	uc004ema.3	-	2	584	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.G158R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	158						intracellular	zinc ion binding	p.A157fs*19(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTGGCCACCCTGCCCCCTGC	0.652000														20			4		0	0	0.00024832	0	0
MYH4	4622	broad.mit.edu	37	17	10355449	10355449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10355449C>T	uc002gmn.3	-	26	3658	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1183					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGACTCTTCCAGGTCCCTG	0.582000														48			13		0	0	0.000308642	0	0
INADL	10207	broad.mit.edu	37	1	62393404	62393404	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62393404G>C	uc001dab.3	+	26	3687	c.3573G>C	c.(3571-3573)agG>agC	p.R1191S	INADL_uc009waf.1_Missense_Mutation_p.R1191S|INADL_uc001daa.2_Missense_Mutation_p.R1191S|INADL_uc001dad.3_Missense_Mutation_p.R888S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1191					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCTTCAGAGGCAAGGAACTG	0.393000														54			9		0	0	0.000274275	0	0
TCP11L2	255394	broad.mit.edu	37	12	106717399	106717399	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:106717399C>T	uc001tln.3	+	5	921	c.747C>T	c.(745-747)ttC>ttT	p.F249F	TCP11L2_uc001tll.3_Silent_p.F249F|TCP11L2_uc001tlm.3_Silent_p.F249F	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	249										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GAACCAAGTTCCAGGAAATTT	0.328000														162			38		0	0	0.000781405	0	0
TLR2	7097	broad.mit.edu	37	4	154626229	154626229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:154626229C>T	uc003inq.3	+	2	2389	c.2170C>T	c.(2170-2172)Ctt>Ttt	p.L724F	TLR2_uc003inr.3_Missense_Mutation_p.L724F|TLR2_uc003ins.3_Missense_Mutation_p.L724F|TLR2_uc021xtl.1_Missense_Mutation_p.L724F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	724	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCATTTCCGTCTTTTTGATGA	0.433000														112			15		0	0	0.000308642	0	0
RELN	5649	broad.mit.edu	37	7	103159895	103159895	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:103159895G>A	uc022ajr.1	-	48	7897	c.7737C>T	c.(7735-7737)ttC>ttT	p.F2579F	RELN_uc022ajq.1_Silent_p.F2579F|RELN_uc010liz.3_Silent_p.F2579F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2579					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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCCATACATGAAGTAAAATT	0.378000														50			11		0	0	0.00136819	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011867	46011867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:46011867C>T	uc002zfm.3	-	0	520	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	167	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GAGGAAATCCCAGAGCAGACA	0.632000														125			8		0	0	0.000673444	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413513	121413514	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121413513_121413514GG>TT	uc010hrc.3	-	12	5982_5983	c.5856_5857CC>AA	c.(5854-5859)gcccaa>gcAAaa	p.Q1953K	GOLGB1_uc003eei.4_Missense_Mutation_p.Q1948K|GOLGB1_uc003eej.4_Missense_Mutation_p.Q1914K|GOLGB1_uc021xcy.1_Missense_Mutation_p.Q1873K|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q1834K|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q1912K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1948					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q1948K(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTTTATTTGGGCATCTGTAA	0.356000														157			8		0	0	6.4e-05	0	0
APOBR	55911	broad.mit.edu	37	16	28507536	28507536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:28507536G>A	uc002dqb.2	+	1	1207	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	383	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GACAGAATATGGAGCAGTCCC	0.607000														34			6		0	0	0.00116845	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533856	156533856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156533856G>A	uc003lwk.2	-	1	430	c.176C>T	c.(175-177)cCt>cTt	p.P59L	HAVCR2_uc003lwl.3_Missense_Mutation_p.P59L	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	59	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAACACAGGACAGGCTCC	0.547000														314			59		0	0	0.000781405	0	0
LOC649330	649330	broad.mit.edu	37	1	12907563	12907563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12907563C>T	uc010obf.2	-	1	806	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	LOC649330_uc009vno.2_Missense_Mutation_p.V194M	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	194							nucleic acid binding|nucleotide binding										AGAGAATCCACTTTCTGTTTT	0.433000														169			19		0	0	0.000295444	0	0
PROKR2	128674	broad.mit.edu	37	20	5283145	5283145	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:5283145G>A	uc010zqw.2	-	1	704	c.696C>T	c.(694-696)ttC>ttT	p.F232F	PROKR2_uc010zqx.2_Silent_p.F232F|PROKR2_uc010zqy.2_Silent_p.F232F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	232						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.E231D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGGGCCCACGAACTCGACAC	0.557000										HNSCC(71;0.22)				60			10		0	0	0.000978159	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124167	103124167	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:103124167T>C	uc001phn.1	+	66	10361	c.10217T>C	c.(10216-10218)tTa>tCa	p.L3406S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.L3399S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3399	AAA 5 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAGTGGATTACGAGGGCAG	0.363000														85			20		0	0	0.00047179	0	0
CYLC2	1539	broad.mit.edu	37	9	105767538	105767538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:105767538G>A	uc004bbs.2	+	4	695	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	209	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.G208D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCTGAAGGTGAAAAAGGAGG	0.353000														37			7		0	0	0.000157383	0	0
RNF207	388591	broad.mit.edu	37	1	6273140	6273140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:6273140C>T	uc001amg.3	+	15	1723	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	RNF207_uc010nzp.1_Non-coding_Transcript	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	517						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTCCATGACCTTCTCCAGCT	0.562000														72			14		0	0	0.000566183	0	0
DISP1	84976	broad.mit.edu	37	1	223176933	223176934	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:223176933_223176934GG>TT	uc001hnu.2	+	9	2520_2521	c.2194_2195GG>TT	c.(2194-2196)ggg>TTg	p.G732L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	732					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTGTAGGTGGGGCCTACATT	0.426000														504			16		0	0	6.4e-05	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113653314	113653315	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113653314_113653315GG>TT	uc003eaq.4	+	12	1464_1465	c.1388_1389GG>TT	c.(1387-1389)tgg>tTT	p.W463F	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.W296F|GRAMD1C_uc003eas.3_Missense_Mutation_p.W258F|GRAMD1C_uc003eat.3_Missense_Mutation_p.W122F	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	463						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAACAGCCATGGGGCCTTGTCA	0.297000														377			13		0	0	6.4e-05	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963932	88963932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:88963932G>A	uc011khi.2	+	3	2174	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	546						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCGGATTGGGAAAAATTCCA	0.348000										HNSCC(36;0.09)				29			4		0	0	0.000602214	0	0
RALBP1	10928	broad.mit.edu	37	18	9522282	9522282	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:9522282G>A	uc002kob.3	+	3	1051	c.828G>A	c.(826-828)gaG>gaA	p.E276E	RALBP1_uc002koc.3_Silent_p.E276E	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	276	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						ACCTTCCAGAGAATTTGCTTA	0.468000														57			13		0	0	0.00185496	0	0
FNDC1	84624	broad.mit.edu	37	6	159687229	159687229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:159687229C>T	uc010kjv.3	+	20	5598	c.5398C>T	c.(5398-5400)Ctt>Ttt	p.L1800F		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1800						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAGTTGTTCTTTGTAATTC	0.443000														109			11		0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13753442	13753442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13753442C>T	uc003jfd.2	-	62	10814	c.10772G>A	c.(10771-10773)gGa>gAa	p.G3591E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3591	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3591E(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAATAATTCCATTTTGAAT	0.393000									Kartagener syndrome					79			11		0	0	0.000673444	0	0
FAM26F	441168	broad.mit.edu	37	6	116784674	116784675	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:116784674_116784675CC>TT	uc003pwv.3	+	2	849_850	c.754_755CC>TT	c.(754-756)cca>TTa	p.P252L		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	252						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ATATAACACTCCAAGCATGAAA	0.391000														131			28		0	0	6.4e-05	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206574	70206574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:70206574G>A	uc001svp.3	+	8	1642	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	RAB3IP_uc001svm.3_Missense_Mutation_p.G383S|RAB3IP_uc001svn.3_Intron|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Intron|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Missense_Mutation_p.G177S	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	399					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTCTCACTGGCCAGAGTAA	0.348000														37			8		0	0	0.000442599	0	0
ADAM30	11085	broad.mit.edu	37	1	120438653	120438653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:120438653G>A	uc001eij.3	-	0	495	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	103					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATGTAAGGATGATCCTCCAGC	0.517000														314			64		0	0	0.000781405	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774450	101774450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:101774450G>A	uc003knn.3	-	6	1319	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.P383S|SLCO6A1_uc003knq.3_Missense_Mutation_p.P321S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	383						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATGAGCACTGGATTCTTCATC	0.274000														89			20		0	0	0.00152264	0	0
SMEK1	55671	broad.mit.edu	37	14	91927811	91927811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:91927811G>A	uc001xzn.3	-	13	3127	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S	SMEK1_uc001xzm.3_Missense_Mutation_p.P756S|SMEK1_uc001xzo.3_Missense_Mutation_p.P756S|SMEK1_uc010atz.3_Missense_Mutation_p.P530S	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	769						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGTGATCCCGGAGAACCAGGC	0.502000														94			17		0	0	0.00074312	0	0
IGSF1	3547	broad.mit.edu	37	X	130410050	130410050	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:130410050G>A	uc004ewe.4	-	14	3079	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	IGSF1_uc004ewd.3_Silent_p.F927F|IGSF1_uc022cdv.1_Silent_p.F918F|IGSF1_uc004ewf.2_Silent_p.F907F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	927	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTGGAGAAGGAAGTCAGCTG	0.522000														20			11		0	0	0.000219431	0	0
AK302514	0	broad.mit.edu	37	6	66013303	66013303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:66013303C>T	uc011dxv.2	+	1	1580	c.889C>T	c.(889-891)Cct>Tct	p.P297S	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		TGACAGTGATCCTCCATTAAA	0.473000														45			7		0	0	0.000442599	0	0
C16orf71	146562	broad.mit.edu	37	16	4790638	4790638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:4790638G>A	uc002cxn.3	+	3	1223	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	254										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCTCCGGAGGGACCACCAGTG	0.647000														38			6		0	0	0.000157383	0	0
L1CAM	3897	broad.mit.edu	37	X	153130813	153130813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:153130813G>A	uc004fjb.3	-	19	2798	c.2690C>T	c.(2689-2691)gCc>gTc	p.A897V	L1CAM_uc004fjc.3_Missense_Mutation_p.A897V|L1CAM_uc010nuo.3_Missense_Mutation_p.A892V	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	897	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.A897A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTTAAAGGCCTGCACCTC	0.632000														23			9		0	0	0.000274275	0	0
HNF4G	3174	broad.mit.edu	37	8	76459898	76459898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:76459898G>A	uc003yaq.3	+	3	493	c.223G>A	c.(223-225)Gcg>Acg	p.A75T	HNF4G_uc003yap.1_Missense_Mutation_p.A75T|HNF4G_uc003yar.3_Missense_Mutation_p.A112T	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	75					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGTTTTAGAGCGGGAATGAA	0.294000														117			23		0	0	0.000295444	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049378	23049378	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:23049378C>T	uc003xda.3	-	9	1342	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	412	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCCATTTCATCAGCATTGCAT	0.537000														96			11		0	0	0.000422831	0	0
SP140	11262	broad.mit.edu	37	2	231159024	231159024	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231159024G>A	uc002vql.3	+	20	2122	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.R555R|SP140_uc002vqm.3_Silent_p.R609R|SP140_uc010fxl.3_Silent_p.R642R	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	669					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACGTTACAGGAAAAAAAAGG	0.373000														40			6		0	0	8.12818e-05	0	0
OR5K1	26339	broad.mit.edu	37	3	98189104	98189104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:98189104G>A	uc003dsm.3	+	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCAAAATGAAATCCAAAG	0.348000														34			5		0	0	0.000602214	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530011	5530011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5530011C>T	uc021qcw.1	-	0	778	c.778G>A	c.(778-780)Gat>Aat	p.D260N	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.D260N	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	260								p.D260Y(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCATAATATCTGTGTACATA	0.527000														83			17		0	0	0.000566183	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174900	140174900	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140174900C>T	uc003lhd.2	+	0	457	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.F117F|PCDHAC2_uc011czy.2_Silent_p.F117F	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	132	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGAAG	0.532000														154			16		0	0	0.000566183	0	0
INCENP	3619	broad.mit.edu	37	11	61914343	61914343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61914343C>T	uc001nsw.1	+	14	2375	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	INCENP_uc009ynw.1_Missense_Mutation_p.R729W|INCENP_uc001nsx.1_Missense_Mutation_p.R721W	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	725					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						gcaggagcgtcggcgggagca	0.721000														10			4		0	0	0.000602214	0	0
FBXL21	26223	broad.mit.edu	37	5	135276722	135276722	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:135276722C>T	uc021ydv.1	+	7		c.1149C>T			FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACAGGAATTCTTTGTGTAGC	0.328000														158			20		0	0	0.00047179	0	0
PHACTR1	221692	broad.mit.edu	37	6	12749886	12749886	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:12749886G>A	uc003nah.2	+	3	487	c.114G>A	c.(112-114)gcG>gcA	p.A38A	PHACTR1_uc011dir.2_Silent_p.A38A|PHACTR1_uc010jpc.3_Silent_p.A38A|PHACTR1_uc003nag.2_Silent_p.A38A|PHACTR1_uc003nai.3_Silent_p.A38A	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	38						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCGCCGGGCGACCCTGCTCC	0.677000														100			8		0	0	0.000157383	0	0
LPIN2	9663	broad.mit.edu	37	18	2925283	2925283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:2925283G>A	uc002klo.3	-	13	2116	c.1877C>T	c.(1876-1878)cCc>cTc	p.P626L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	626					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GTGGCTCAGGGGCTCTGTGGG	0.542000														66			6		0	0	8.12818e-05	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919456	142919456	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142919456C>T	uc011ksx.2	+	0	285	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	95					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CAGTGTATATCCTCTTCAAAG	0.398000														111			8		0	0	0.000442599	0	0
GPR32	2854	broad.mit.edu	37	19	51274922	51274922	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51274922G>A	uc010ycf.2	+	0	1065	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	355						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACGCCCCCCGGGAATGATGGA	0.527000														65			6		0	0	8.12818e-05	0	0
RIMBP2	23504	broad.mit.edu	37	12	130941052	130941052	+	Missense_Mutation	SNP	G	A	A	rs147862372		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:130941052G>A	uc001uil.2	-	3	512	c.296C>T	c.(295-297)tCc>tTc	p.S99F	RIMBP2_uc001uim.3_Missense_Mutation_p.S7F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	99						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTGCCGAGGGAGGTGGCTAG	0.632000														33			5		0	0	0.000157383	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857878	9857878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:9857878C>T	uc010uym.2	-	13	3833	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1175K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E1018K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1175K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1175					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1175K(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCCCCTCTTCATTATGCAAG	0.557000														127			23		0	0	0.000586117	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162116	142162116	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142162116C>G	uc011krx.2	-	1	174	c.159G>C	c.(157-159)tgG>tgC	p.W53C	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.W53C					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		CTTGTCGATACCAGTACATGT	0.478000														89			17		0	0	0.00121646	0	0
PHF2	5253	broad.mit.edu	37	9	96428031	96428031	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:96428031G>A	uc004aub.3	+	14	2148	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	PHF2_uc011lug.1_Silent_p.E550E|PHF2_uc004auc.3_Silent_p.E86E	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	667					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ACTTCAAGGAGGACAAGCCCA	0.587000														52			17		0	0	0.000566183	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378675	31378675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31378675C>T	uc003tch.3	-	1	561	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	NEUROD6_uc022abi.1_Missense_Mutation_p.E70K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	70					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E70*(2)|p.D69V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AACCCAttttcatcttcctct	0.483000														93			17		0	0	0.000566183	0	0
TEKT5	146279	broad.mit.edu	37	16	10788230	10788230	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:10788230C>T	uc002czz.1	-	0	573	c.501G>A	c.(499-501)caG>caA	p.Q167Q		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	167					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCTCCAAGTTCTGGTTCTCAG	0.607000														172			16		0	0	0.000308642	0	0
FREM2	341640	broad.mit.edu	37	13	39358792	39358792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:39358792G>A	uc001uwv.3	+	5	6175	c.5866G>A	c.(5866-5868)Gaa>Aaa	p.E1956K	FREM2_uc001uww.3_Missense_Mutation_p.E42K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1956	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACAAAGATGAACGGGAGAA	0.488000														44			9		0	0	0.000673444	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872148	51872148	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:51872148C>T	uc002xwo.3	+	1	3038	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	TSHZ2_uc021wex.1_Silent_p.S714S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	717					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTCACCTTCCTGCTCCAGCC	0.577000														50			5		0	0	8.12818e-05	0	0
MKRN1	23608	broad.mit.edu	37	7	140156574	140156574	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:140156574G>A	uc003vvt.2	-	4	1089	c.864C>T	c.(862-864)gtC>gtT	p.V288V	MKRN1_uc003vvs.2_Silent_p.V224V|MKRN1_uc011krd.1_Silent_p.V22V|MKRN1_uc003vvv.4_Silent_p.V288V|MKRN1_uc003vvu.4_Silent_p.V224V	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	288							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTTCTCATAGACCACCTCCA	0.552000														44			6		0	0	8.12818e-05	0	0
OR52N2	390077	broad.mit.edu	37	11	5841866	5841866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5841866G>A	uc010qzp.2	+	0	301	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCCTGCCTGGCCCAGATGTT	0.517000														68			8		0	0	0.000442599	0	0
ADD2	119	broad.mit.edu	37	2	70918027	70918027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:70918027G>A	uc021vjc.1	-	7	1005	c.740C>T	c.(739-741)tCc>tTc	p.S247F	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.S247F|ADD2_uc002sgz.3_Missense_Mutation_p.S247F|ADD2_uc010fdt.2_Missense_Mutation_p.S247F|ADD2_uc002shc.2_Missense_Mutation_p.S247F|ADD2_uc010fdu.2_Missense_Mutation_p.S263F	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	247					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGCATTGTGGGAGACAGGCAG	0.577000														33			6		0	0	0.000157383	0	0
OLFM3	118427	broad.mit.edu	37	1	102302440	102302440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:102302440C>T	uc001duf.2	-	1	342	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	OLFM3_uc001dug.2_Missense_Mutation_p.E71K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	91						extracellular region		p.D90Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTACCTTTTCCAGTAGTTGG	0.448000														101			12		0	0	0.000219431	0	0
RORB	6096	broad.mit.edu	37	9	77300489	77300489	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:77300489A>C	uc004aji.3	+	9	1417	c.1368A>C	c.(1366-1368)ttA>ttC	p.L456F	RORB_uc004ajh.3_Missense_Mutation_p.L445F	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	456	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCCTCCGTTATACAAGGAGC	0.453000														84			6		0	0	0.00116845	0	0
POTEF	728378	broad.mit.edu	37	2	130877804	130877804	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:130877804C>T	uc010fmh.2	-	2	685	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	95						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCATCTTGTTCCTGAGTGTCT	0.612000														128			10		0	0	0.000219431	0	0
CADPS	8618	broad.mit.edu	37	3	62464030	62464030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:62464030G>A	uc003dll.2	-	22	3595	c.3235C>T	c.(3235-3237)Cgg>Tgg	p.R1079W	CADPS_uc003dlj.1_Missense_Mutation_p.R29W|CADPS_uc003dlk.1_Missense_Mutation_p.R527W|CADPS_uc003dlm.2_Missense_Mutation_p.R1040W|CADPS_uc003dln.2_Missense_Mutation_p.R1000W|CADPS_uc021wzv.1_Missense_Mutation_p.R1070W	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1079	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAGGTCCCGAATGAAGGTC	0.468000														46			9		0	0	0.000442599	0	0
SLC22A11	55867	broad.mit.edu	37	11	64336179	64336179	+	Silent	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64336179A>C	uc001oai.3	+	7	1685	c.1311A>C	c.(1309-1311)ggA>ggC	p.G437G	SLC22A11_uc009ypq.3_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	437					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGTGCTGGGAAAGGGATGTT	0.582000														85			13		0	0	0.000308642	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329570	64329570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64329570G>A	uc001oai.3	+	2	966	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	SLC22A11_uc001oah.1_Missense_Mutation_p.R163Q|SLC22A11_uc009ypq.3_Missense_Mutation_p.G198S|SLC22A11_uc001oak.1_Missense_Mutation_p.G27S	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	198					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CATCTACTGCGGCCTGCGGTT	0.637000											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		39			10		0	0	0.000978159	0	0
KRT39	390792	broad.mit.edu	37	17	39115106	39115106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:39115106G>A	uc002hvo.1	-	6	1259	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	KRT39_uc010wfm.1_Missense_Mutation_p.P141L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	408	Tail.					intermediate filament	structural molecule activity	p.R407C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGGGTAACAGGGACGCCTAAG	0.478000														99			11		0	0	0.000219431	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549503	27549503	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:27549503G>A	uc002dov.2	-	2	646	c.606C>T	c.(604-606)ttC>ttT	p.F202F	GTF3C1_uc002dou.3_Silent_p.F202F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	202						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACTTACTTGAAAGCAGTGG	0.552000														53			16		0	0	0.000958276	0	0
TRIO	7204	broad.mit.edu	37	5	14387673	14387673	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:14387673C>T	uc003jff.3	+	21	3703	c.3697C>T	c.(3697-3699)Ctg>Ttg	p.L1233L	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.L1184L|TRIO_uc003jfh.1_Silent_p.L882L	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1233					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGATTTCTCTCTGCGGATGGA	0.433000														122			10		0	0	0.00185496	0	0
SAMD15	161394	broad.mit.edu	37	14	77845346	77845346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77845346G>A	uc001xtq.1	+	0	1585	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.E529K	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	529										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAAGATGACGAAACCCAGCC	0.443000														50			9		0	0	0.000442599	0	0
COL1A1	1277	broad.mit.edu	37	17	48266785	48266785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:48266785G>A	uc002iqm.3	-	38	2908	c.2782C>T	c.(2782-2784)Cct>Tct	p.P928S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	928	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCAGGGCCAGGGGGACCAGGG	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							43			4		0	0	0.000602214	0	0
CDKAL1	54901	broad.mit.edu	37	6	21198298	21198298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:21198298C>T	uc003ndd.2	+	13	1513	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	CDKAL1_uc003nde.2_Missense_Mutation_p.S358F|CDKAL1_uc021ymk.1_Missense_Mutation_p.S449F|CDKAL1_uc003ndf.2_Intron	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	449	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCTTTTGATTCCAAGTTTTAT	0.378000														517			33		0	0	0.00111076	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201568	140201568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140201568C>T	uc003lhl.2	+	0	208	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R70C|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R70C	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	84	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q49fs*50(1)|p.R70R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAAGGGCCGCGGGGACCT	0.637000														98			23		0	0	0.00047179	0	0
AMFR	267	broad.mit.edu	37	16	56401394	56401394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:56401394G>A	uc002eiy.3	-	11	1766	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	AMFR_uc002eix.3_Missense_Mutation_p.P155S	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	521					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCACTGCTTGGCCTTTCCACA	0.498000														218			44		0	0	0.000781405	0	0
CES1	1066	broad.mit.edu	37	16	55860125	55860125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:55860125C>T	uc002eim.3	-	2	448	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CES1_uc002eil.3_Missense_Mutation_p.E115K|CES1_uc002ein.3_Missense_Mutation_p.E114K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	114					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.E115Q(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGACAGTCTTCAGAAAGCTTG	0.507000														141			23		0	0	0.000295444	0	0
ITPA	3704	broad.mit.edu	37	20	3193981	3193981	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:3193981G>A	uc002wid.3	+	2	283	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ITPA_uc002wie.3_Silent_p.G30G|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	47					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGTACCAGGGGGAGCCGGATG	0.488000														52			9		0	0	0.000673444	0	0
WIBG	84305	broad.mit.edu	37	12	56297254	56297254	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:56297254G>A	uc001sif.1	-	1	200	c.48C>T	c.(46-48)atC>atT	p.I16I	WIBG_uc001sie.1_Silent_p.I15I	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA.	16	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	RNA binding|protein binding|ribosome binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGTTGACGCGATATACTTGC	0.428000														63			14		0	0	0.000422831	0	0
C4orf37	285555	broad.mit.edu	37	4	98902319	98902319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:98902319C>T	uc003htt.2	-	5	853	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	255								p.E255K(2)		cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CCTGGCATTTCCTCTGTCCTG	0.368000														142			12		0	0	0.000308642	0	0
EPHB2	2048	broad.mit.edu	37	1	23111036	23111036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:23111036C>T	uc009vqj.1	+	2	423	c.278C>T	c.(277-279)tCg>tTg	p.S93L	EPHB2_uc001bge.3_Missense_Mutation_p.S93L|EPHB2_uc001bgf.3_Missense_Mutation_p.S93L|EPHB2_uc010odu.2_Missense_Mutation_p.S93L	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	93					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATGAAGTTTTCGGTGCGTGAC	0.572000														21			6		0	0	8.12818e-05	0	0
ATP12A	479	broad.mit.edu	37	13	25264590	25264590	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25264590C>T	uc010aaa.3	+	5	994	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	ATP12A_uc001upp.3_Silent_p.L221L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	221					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATCAGGGTGCTGTCTTCTCA	0.567000														32			11		0	0	0.00136819	0	0
DPY19L4	286148	broad.mit.edu	37	8	95782759	95782759	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:95782759C>A	uc003ygx.2	+	12	1538	c.1414C>A	c.(1414-1416)Cac>Aac	p.H472N		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	472						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCATGTAATTCACACTATTTT	0.348000														445			10		0.000442599	0.00228164	0.000442599	1	0
PRDM9	56979	broad.mit.edu	37	5	23526672	23526672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:23526672G>A	uc003jgo.3	+	10	1657	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	492					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R492K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGGAAAAAGAATAATGGAA	0.448000										HNSCC(3;0.000094)				30			5		0	0	0.000602214	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:45262407C>T	uc003jok.3	-	7	2314	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000														37			7		0	0	0.000157383	0	0
NLRP10	338322	broad.mit.edu	37	11	7984790	7984790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7984790C>T	uc001mfv.1	-	0	270	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	85	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCACAAGTTCCAACAGGTTC	0.537000														53			12		0	0	0.00185496	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:28543161C>T	uc003nlo.3	-	2	1939	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000														35			11		0	0	0.00136819	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951447	30951447	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30951447G>A	uc003aig.1	-	3	905	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GAL3ST1_uc003aih.1_Silent_p.F255F|GAL3ST1_uc003aii.1_Silent_p.F255F|GAL3ST1_uc010gvz.1_Silent_p.F255F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	255					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.F255F(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCGACTCGTCGAAGTACTCTT	0.647000														82			20		0	0	0.00047179	0	0
MORC1	27136	broad.mit.edu	37	3	108723961	108723961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108723961G>A	uc003dxl.3	-	18	2056	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	MORC1_uc011bhn.2_Missense_Mutation_p.P636S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	657					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAGCTACTGGAATTCTCTGC	0.343000														73			10		0	0	0.000673444	0	0
NDST3	9348	broad.mit.edu	37	4	118976014	118976014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:118976014G>A	uc003ibx.3	+	1	1352	c.949G>A	c.(949-951)Gag>Aag	p.E317K	NDST3_uc011cgf.1_Missense_Mutation_p.E317K|NDST3_uc003ibw.3_Missense_Mutation_p.E317K	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	317	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTGGGAAAAGAGGGAACAAG	0.398000														28			5		0	0	0.000602214	0	0
DPEP3	64180	broad.mit.edu	37	16	68010128	68010128	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:68010128G>A	uc002evc.4	-	8	1267	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	DPEP3_uc010cex.3_Silent_p.F390F	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	366					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCCCCTGAGGGAACCTGTGTG	0.602000														27			6		0	0	0.00116845	0	0
SMARCC1	6599	broad.mit.edu	37	3	47755909	47755909	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:47755909C>T	uc003crq.2	-	7	906	c.788G>A	c.(787-789)tGg>tAg	p.W263*	SMARCC1_uc011bbd.1_Nonsense_Mutation_p.W154*	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	263					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATTTACCTTCCATGGTTTTTC	0.343000														156			15		0	0	0.000422831	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558105	4558105	+	Missense_Mutation	SNP	C	T	T	rs148915946		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:4558105C>T	uc010dud.2	-	2	440	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SEMA6B_uc010xih.1_Missense_Mutation_p.E60K	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	60	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCACCTTCTGCGGGGGTC	0.632000														17			4		0	0	0.00116845	0	0
MUC6	4588	broad.mit.edu	37	11	1017526	1017526	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:1017526G>C	uc001lsw.2	-	30	5326	c.5275C>G	c.(5275-5277)Cct>Gct	p.P1759A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1759	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGACTTCAGGATGGTGTGTG	0.562000														526			8		0	0	0.000442599	0	0
MYO18B	84700	broad.mit.edu	37	22	26298654	26298654	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26298654A>C	uc003abz.1	+	29	5148	c.4898A>C	c.(4897-4899)gAg>gCg	p.E1633A	MYO18B_uc003aca.1_Missense_Mutation_p.E1514A|MYO18B_uc010guy.1_Missense_Mutation_p.E1515A|MYO18B_uc010guz.1_Missense_Mutation_p.E1513A|MYO18B_uc011aka.1_Missense_Mutation_p.E787A|MYO18B_uc011akb.1_Missense_Mutation_p.E1146A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1633	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGACCCAGGAGAACACCAGT	0.572000														14			3		0	0	6.4e-05	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350155	134350155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:134350155G>A	uc003qem.1	-	1	979	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	270						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCTTTTGAACGAAACAGATCC	0.388000														75			7		0	0	8.12818e-05	0	0
DOCK10	55619	broad.mit.edu	37	2	225729299	225729299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:225729299G>A	uc010fwz.1	-	12	1812	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	DOCK10_uc002vob.2_Missense_Mutation_p.P519S|DOCK10_uc002vod.1_Missense_Mutation_p.P525S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	525							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTAATATAAGGTTCGGCACCA	0.368000														32			7		0	0	8.12818e-05	0	0
CCND2	894	broad.mit.edu	37	12	4385251	4385251	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:4385251G>A	uc001qmo.3	+	1	581	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	92	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CTGGGGTCCCGACTCCGAAGT	0.552000			T	IGL@	"""NHL,CLL"""									62			17		0	0	0.00121646	0	0
RBPJ	3516	broad.mit.edu	37	4	26417244	26417244	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:26417244G>A	uc003grx.2	+	4	578	c.342G>A	c.(340-342)caG>caA	p.Q114Q	RBPJ_uc003gry.2_Silent_p.Q99Q|RBPJ_uc003grz.2_Silent_p.Q114Q|RBPJ_uc011bxt.2_Silent_p.Q114Q|RBPJ_uc003gsa.2_Silent_p.Q100Q|RBPJ_uc003gsb.2_Silent_p.Q101Q	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	114					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAATGCAGCAGCTAAACTTGG	0.398000														174			14		0	0	0.000566183	0	0
ASXL3	80816	broad.mit.edu	37	18	31325280	31325280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:31325280G>A	uc010dmg.1	+	11	5523	c.5468G>A	c.(5467-5469)cGa>cAa	p.R1823Q	ASXL3_uc002kxq.2_Missense_Mutation_p.R1530Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R1823Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGAGAAAGCGAGAAAACCAC	0.478000														122			13		0	0	0.000566183	0	0
GDF3	9573	broad.mit.edu	37	12	7843273	7843273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7843273G>A	uc001qte.3	-	1	332	c.296C>T	c.(295-297)tCc>tTc	p.S99F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	99					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.I98M(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAAGCTTGGGAAATTTTCTT	0.433000														83			16		0	0	0.000422831	0	0
GPR111	222611	broad.mit.edu	37	6	47647972	47647972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:47647972G>A	uc010jzj.1	+	4	638	c.637G>A	c.(637-639)Gta>Ata	p.V213I	GPR111_uc003oyy.3_Missense_Mutation_p.V145I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	213					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K212*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAACATTGCCGTAATTGTGCA	0.423000														68			6		0	0	0.000157383	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002486	41002486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:41002486G>A	uc003opi.3	-	1	427	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	UNC5CL_uc010jxe.1_Missense_Mutation_p.H110Y	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	110	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGCCGCGGTGATCCACCTCT	0.567000														62			10		0	0	0.000978159	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565153	58565153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58565153C>T	uc002qrc.1	+	5	1208	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P321P(2)|p.P321Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGGCCCTTTCCGTGCCCCGA	0.627000														27			5		0	0	0.000602214	0	0
BAG6	7917	broad.mit.edu	37	6	31611951	31611951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31611951G>A	uc003nvg.4	-	11	1800	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	BAG6_uc003nvf.4_Missense_Mutation_p.P490S|BAG6_uc003nvi.4_Missense_Mutation_p.P490S|BAG6_uc003nvh.4_Missense_Mutation_p.P490S|BAG6_uc011dnw.2_Missense_Mutation_p.P490S|BAG6_uc011dnx.2_Missense_Mutation_p.P490S	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	496	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGAGCTGTTGGGAAGCCTGGC	0.662000														146			11		0	0	0.00185496	0	0
PSG5	5673	broad.mit.edu	37	19	43680251	43680251	+	Silent	SNP	C	T	T	rs138774767		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43680251C>T	uc002ovu.3	-	2	611	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.E160E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160E(2)|p.E160K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CATCCTTATTCTCCCTGGGTT	0.488000														167			38		0	0	0.000509022	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033868	21033868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21033868G>A	uc010sil.2	+	9	1476	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B3_uc001rek.3_Missense_Mutation_p.E471K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E471K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	471	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTCAGTGGGAACCAGTCTG	0.368000														89			17		0	0	0.00121646	0	0
FCAR	2204	broad.mit.edu	37	19	55396927	55396927	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55396927G>A	uc002qhr.1	+	2	548	c.351G>A	c.(349-351)ctG>ctA	p.L117L	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.L117L|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L90L|FCAR_uc010esi.1_Silent_p.L90L|FCAR_uc002qhu.1_Silent_p.L117L|FCAR_uc002qhv.1_Silent_p.L117L|FCAR_uc002qhw.1_Silent_p.L105L|FCAR_uc002qhx.1_Silent_p.L105L|FCAR_uc002qhy.1_Silent_p.L105L|FCAR_uc002qhz.1_Silent_p.L105L|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	117					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCTGGAGCTGGTAGTGACAG	0.433000														39			5		0	0	0.000602214	0	0
LY96	23643	broad.mit.edu	37	8	74917080	74917080	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:74917080G>A	uc003yad.3	+	1	276	c.162G>A	c.(160-162)ttG>ttA	p.L54L	LY96_uc022awb.1_Intron	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	54					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GTATAGAATTGAAAAGATCCA	0.269000														140			33		0	0	0.00128727	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88888352	88888353	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:88888352_88888353GG>TT	uc002stc.4	-	6	1534_1535	c.1232_1233CC>AA	c.(1231-1233)ccc>cAA	p.P411Q		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	411					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCAAAGCCTTGGGACTTGAAGG	0.356000														520			18		0	0	6.4e-05	0	0
FLT3	2322	broad.mit.edu	37	13	28601286	28601286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:28601286C>T	uc001urw.3	-	16	2228	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E716K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	716	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAAATCTCTGTCCAAGTC	0.358000			"""Mis, O"""		"""AML, ALL"""									126			6		0	0	0.00116845	0	0
BCL11A	53335	broad.mit.edu	37	2	60688222	60688222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:60688222G>A	uc002sae.1	-	3	2053	c.1825C>T	c.(1825-1827)Ccg>Tcg	p.P609S	BCL11A_uc002sab.3_Missense_Mutation_p.P609S|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.P278S|BCL11A_uc010ypj.2_Missense_Mutation_p.P575S|BCL11A_uc002sad.1_Missense_Mutation_p.P457S|BCL11A_uc002saf.1_Missense_Mutation_p.P575S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	609					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GACTCGCCCGGGGAGCAGCCG	0.667000			T	IGH@	B-CLL									88			9		0	0	0.000442599	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:124359953C>T	uc001uft.4	+	45	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000														40			5		0	0	0.000602214	0	0
CSMD3	114788	broad.mit.edu	37	8	113662516	113662516	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:113662516C>A	uc003ynu.3	-	18	3226	c.3067G>T	c.(3067-3069)Ggt>Tgt	p.G1023C	CSMD3_uc003yns.3_Missense_Mutation_p.G295C|CSMD3_uc003ynt.3_Missense_Mutation_p.G983C|CSMD3_uc011lhx.2_Missense_Mutation_p.G919C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1023	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCATGACCATAGCGACGG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				111			6		5.18039e-06	2.68505e-05	0.000157383	1	0
COL2A1	1280	broad.mit.edu	37	12	48372487	48372487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:48372487C>T	uc001rqu.3	-	41	2969	c.2788G>A	c.(2788-2790)Ggt>Agt	p.G930S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G861S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	930	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTCGAGCACCTTTGGGACCA	0.632000														37			7		0	0	0.000157383	0	0
COL4A4	1286	broad.mit.edu	37	2	227924939	227924939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:227924939G>A	uc021vxr.1	-	25	2178	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	COL4A4_uc021vxs.1_Missense_Mutation_p.P693S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	693	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCACCTTGGGGACCTGGAAAT	0.443000														100			8		0	0	0.000157383	0	0
NOS1	4842	broad.mit.edu	37	12	117768363	117768363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:117768363G>A	uc001twn.2	-	1	1223	c.512C>T	c.(511-513)tCa>tTa	p.S171L	NOS1_uc001twm.2_Missense_Mutation_p.S171L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	171	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGGGGAGTGAGCCAGCCTC	0.667000														38			8		0	0	0.000274275	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530036	80530036	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:80530036C>T	uc021vjt.1	-	0	909	c.909G>A	c.(907-909)tgG>tgA	p.W303*	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Nonsense_Mutation_p.W303*	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	303						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.W303C(3)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCAGGGACTTCCAAGAGTTGA	0.627000										HNSCC(69;0.2)				27			4		0	0	0.00024832	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540419	6540419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:6540419C>T	uc001iji.1	-	3	664	c.580G>A	c.(580-582)Gag>Aag	p.E194K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E161K|PRKCQ_uc009xim.2_Missense_Mutation_p.E161K|PRKCQ_uc009xin.2_Missense_Mutation_p.E125K|PRKCQ_uc010qax.2_Missense_Mutation_p.E36K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	161					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCAGTGAACTCGTGGCACTTG	0.522000														66			8		0	0	0.000442599	0	0
FAT3	120114	broad.mit.edu	37	11	92087581	92087581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92087581G>A	uc001pdj.4	+	0	2320	c.2303G>A	c.(2302-2304)gGa>gAa	p.G768E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	768	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATCAGATGGAAATACGGAT	0.408000										TCGA Ovarian(4;0.039)				266			26		0	0	0.00106085	0	0
FRMD7	90167	broad.mit.edu	37	X	131212601	131212601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:131212601G>A	uc004ewn.3	-	11	1622	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	FRMD7_uc022cdy.1_Missense_Mutation_p.P362S|FRMD7_uc011muy.2_Missense_Mutation_p.P467S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	482					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTACAAGGAATATAGGGC	0.478000														44			16		0	0	0.000308642	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815429	106815429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:106815429G>A	uc003ymd.3	+	7	3142	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G771E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1040					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R1039R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAAATCGAGGAATGGTAATA	0.473000														24			4		0	0	0.000602214	0	0
PRKAA2	5563	broad.mit.edu	37	1	57158174	57158174	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57158174C>T	uc001cyk.4	+	4	546	c.475_splice	c.e4+1	p.G159_splice		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	159	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TAGCCGATTTCGGTATGTAAC	0.413000														81			7		0	0	0.000274275	0	0
CCDC73	493860	broad.mit.edu	37	11	32632752	32632752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:32632752G>A	uc001mtv.3	-	16	3000	c.2956C>T	c.(2956-2958)Ccc>Tcc	p.P986S		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	986										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTCCCTTGGGATCTGGATGG	0.383000														95			25		0	0	0.000375601	0	0
CTNND1	1500	broad.mit.edu	37	11	57569650	57569650	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57569650C>A	uc001nmc.4	+	6	1973	c.1402C>A	c.(1402-1404)Ctt>Att	p.L468I	CTNND1_uc001nlf.2_Missense_Mutation_p.L468I|CTNND1_uc021qjk.1_Missense_Mutation_p.L468I|CTNND1_uc001nlh.1_Missense_Mutation_p.L468I|CTNND1_uc001nlj.4_Missense_Mutation_p.L414I|CTNND1_uc001nlq.4_Missense_Mutation_p.L367I|CTNND1_uc001nlr.4_Missense_Mutation_p.L414I|CTNND1_uc001nln.4_Missense_Mutation_p.L468I|CTNND1_uc001nli.4_Missense_Mutation_p.L468I|CTNND1_uc001nlo.4_Missense_Mutation_p.L367I|CTNND1_uc001nlp.4_Missense_Mutation_p.L414I|CTNND1_uc001nlu.4_Missense_Mutation_p.L367I|CTNND1_uc001nlt.4_Missense_Mutation_p.L367I|CTNND1_uc001nlv.4_Missense_Mutation_p.L367I|CTNND1_uc001nls.4_Missense_Mutation_p.L367I|CTNND1_uc001nlw.4_Missense_Mutation_p.L367I|CTNND1_uc001nmf.4_Missense_Mutation_p.L468I|CTNND1_uc001nlx.4_Missense_Mutation_p.L145I|CTNND1_uc001nlz.4_Missense_Mutation_p.L145I|CTNND1_uc009ymn.3_Missense_Mutation_p.L145I|CTNND1_uc001nly.4_Missense_Mutation_p.L145I|CTNND1_uc001nmb.4_Missense_Mutation_p.L145I|CTNND1_uc001nma.4_Missense_Mutation_p.L145I|CTNND1_uc001nmd.4_Missense_Mutation_p.L414I|CTNND1_uc001nlk.4_Missense_Mutation_p.L414I|CTNND1_uc001nme.4_Missense_Mutation_p.L468I|CTNND1_uc001nll.4_Missense_Mutation_p.L414I|CTNND1_uc001nlm.4_Missense_Mutation_p.L468I|CTNND1_uc001nmi.4_Missense_Mutation_p.L367I|CTNND1_uc001nmg.4_Missense_Mutation_p.L414I|CTNND1_uc001nmh.4_Missense_Mutation_p.L468I	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	468					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGATATGGACCTTACTGAAGT	0.433000														236			52		4.17463e-26	2.17833e-25	0.000781405	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140256735	140256735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140256735G>A	uc003lic.2	+	0	1805	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.D560N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	574	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCGCC	0.701000														122			10		0	0	0.000978159	0	0
NCOA2	10499	broad.mit.edu	37	8	71068906	71068906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:71068906G>A	uc003xyn.1	-	10	1856	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	565					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATTAACTGGGGAGTTTTGCAA	0.507000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									52			14		0	0	0.000308642	0	0
CMYA5	202333	broad.mit.edu	37	5	79032011	79032011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79032011G>A	uc003kgc.3	+	1	7495	c.7423G>A	c.(7423-7425)Gaa>Aaa	p.E2475K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2475						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGTGCTGGCAGAAAAACAAAA	0.378000														47			7		0	0	8.12818e-05	0	0
CTNND1	1500	broad.mit.edu	37	11	57576844	57576845	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57576844_57576845AC>TT	uc001nmc.4	+	14	2912_2913	c.2341_2342AC>TT	c.(2341-2343)act>TTt	p.T781F	CTNND1_uc001nlf.2_Missense_Mutation_p.T781F|CTNND1_uc021qjk.1_Missense_Mutation_p.T775F|CTNND1_uc001nlh.1_Missense_Mutation_p.T781F|CTNND1_uc001nlj.4_Missense_Mutation_p.T721F|CTNND1_uc001nlq.4_Missense_Mutation_p.T680F|CTNND1_uc001nlr.4_Missense_Mutation_p.T721F|CTNND1_uc001nln.4_Missense_Mutation_p.T775F|CTNND1_uc001nli.4_Missense_Mutation_p.T775F|CTNND1_uc001nlo.4_Missense_Mutation_p.T674F|CTNND1_uc001nlp.4_Missense_Mutation_p.T721F|CTNND1_uc001nlu.4_Missense_Mutation_p.T674F|CTNND1_uc001nlt.4_Missense_Mutation_p.T674F|CTNND1_uc001nlv.4_Missense_Mutation_p.T674F|CTNND1_uc001nls.4_Missense_Mutation_p.T674F|CTNND1_uc001nlw.4_Missense_Mutation_p.T674F|CTNND1_uc001nmf.4_Missense_Mutation_p.T781F|CTNND1_uc001nlx.4_Missense_Mutation_p.T458F|CTNND1_uc001nlz.4_Missense_Mutation_p.T458F|CTNND1_uc009ymn.3_Missense_Mutation_p.T452F|CTNND1_uc001nly.4_Missense_Mutation_p.T452F|CTNND1_uc001nmb.4_Missense_Mutation_p.T452F|CTNND1_uc001nma.4_Missense_Mutation_p.T452F|CTNND1_uc001nmd.4_Missense_Mutation_p.T727F|CTNND1_uc001nlk.4_Missense_Mutation_p.T727F|CTNND1_uc001nme.4_Missense_Mutation_p.T775F|CTNND1_uc001nll.4_Missense_Mutation_p.T721F|CTNND1_uc001nlm.4_Missense_Mutation_p.T775F|CTNND1_uc001nmi.4_Missense_Mutation_p.T680F|CTNND1_uc001nmg.4_Missense_Mutation_p.T721F|CTNND1_uc001nmh.4_Missense_Mutation_p.T775F	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	781					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TATTTTGAACACTATCAACGAG	0.446000														70			7		0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144867970	144867970	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:144867970C>T	uc021ouh.1	-	32	5771	c.5469G>A	c.(5467-5469)ggG>ggA	p.G1823G	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.G1823G|PDE4DIP_uc001elx.4_Silent_p.G1717G|PDE4DIP_uc001elv.4_Silent_p.G830G|PDE4DIP_uc001ema.3_Silent_p.G10G	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1823					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGATAGGTCCCCAGATACAC	0.522000			T	PDGFRB	MPD									204			31		0	0	0.00111076	0	0
COL4A1	1282	broad.mit.edu	37	13	110827591	110827591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:110827591C>T	uc001vqw.4	-	36	3294	c.3172G>A	c.(3172-3174)Ggc>Agc	p.G1058S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1058	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGGATGCCTATGCCAGGT	0.582000														67			5		0	0	0.000157383	0	0
CXCL9	4283	broad.mit.edu	37	4	76928573	76928573	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:76928573C>A	uc003hjh.1	-	0	69	c.30G>T	c.(28-30)ttG>ttT	p.L10F		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	10					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGATGATGCCCAAGAGGAAAA	0.393000														131			9		0.000978159	0.00503204	0.000978159	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317558	30317559	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30317558_30317559CC>AT	uc009xle.2	-	2	1655_1656	c.1518_1519GG>AT	c.(1516-1521)ggggat>ggATat	p.D507Y	KIAA1462_uc001iux.3_Missense_Mutation_p.D507Y|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.D369Y	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	507								p.G506E(3)|p.G506G(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTTCCCCATCCCCGGGGGGCT	0.639000														67			7		0	0	6.4e-05	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480247	140480247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140480247G>A	uc003lio.3	+	0	14	c.14G>A	c.(13-15)gGa>gAa	p.G5E	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	5					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGGAGGAGAGCGATTT	0.522000														63			9		0	0	0.000673444	0	0
GSS	2937	broad.mit.edu	37	20	33533870	33533870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33533870G>A	uc002xbg.3	-	2	241	c.161C>T	c.(160-162)cCc>cTc	p.P54L	GSS_uc010zun.2_5'UTR|GSS_uc010zuo.2_Missense_Mutation_p.P54L|GSS_uc010zup.2_Intron|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	54					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GACCAGTGAGGGGAAGAGCGT	0.567000														105			15		0	0	0.00074312	0	0
TMEM202	338949	broad.mit.edu	37	15	72699430	72699430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:72699430C>T	uc002auq.3	+	3	491	c.491C>T	c.(490-492)aCc>aTc	p.T164I	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	164						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTCCTAGCTACCTGCTTGCTC	0.517000														67			13		0	0	0.000958276	0	0
GTPBP4	23560	broad.mit.edu	37	10	1043163	1043163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:1043163C>T	uc001ift.3	+	4	547	c.476C>T	c.(475-477)tCc>tTc	p.S159F	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Missense_Mutation_p.S43F|GTPBP4_uc010qae.2_Missense_Mutation_p.S112F	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	159					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CAGCATTTATCCCGTTTGCCA	0.378000														234			23		0	0	0.001512	0	0
OR8B12	219858	broad.mit.edu	37	11	124412707	124412707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124412707G>A	uc010sam.2	-	0	844	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTAACACGGGGACTATTATG	0.428000														50			11		0	0	0.00185496	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613951	27613951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:27613951G>A	uc002hdy.4	-	1	1150	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	354						nucleus|polysomal ribosome	RNA binding|protein binding	p.V353L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ACTTATTTTAGGAACTATTTT	0.408000														108			22		0	0	0.000295444	0	0
BCAS3	54828	broad.mit.edu	37	17	58885405	58885406	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:58885405_58885406CC>AA	uc002iyv.4	+	6	553_554	c.444_445CC>AA	c.(442-447)ctcctt>ctAAtt	p.L149I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Missense_Mutation_p.L149I|BCAS3_uc002iyw.4_Missense_Mutation_p.L145I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	149						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAAGACCCCTCCTTGGTGTTTG	0.327000														339			11		0	0	6.4e-05	0	0
KLKB1	3818	broad.mit.edu	37	4	187155165	187155165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187155165G>A	uc003iyy.3	+	3	352	c.281G>A	c.(280-282)gGt>gAt	p.G94D	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.G56D	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	94	Apple 1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CATCGAACAGGTGCAGTTTCT	0.353000														71			6		0	0	8.12818e-05	0	0
ARRDC4	91947	broad.mit.edu	37	15	98511249	98511249	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:98511249T>C	uc010bom.3	+	3	687	c.528T>C	c.(526-528)ccT>ccC	p.P176P	ARRDC4_uc002bui.4_Silent_p.P89P	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	176					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TCAAGACCCCTGTATTGAAAA	0.348000														70			12		0	0	0.000566183	0	0
WDR33	55339	broad.mit.edu	37	2	128471199	128471199	+	Missense_Mutation	SNP	C	A	A	rs34080906		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:128471199C>A	uc002tpg.2	-	17	3465	c.3266G>T	c.(3265-3267)cGg>cTg	p.R1089L		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1089					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCGGGATCCCGGGGGAAACG	0.617000														124			7		0.000442599	0.00228164	0.000442599	1	0
OR10J3	441911	broad.mit.edu	37	1	159284007	159284007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159284007C>T	uc010piu.2	-	0	443	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147C(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCCCAGTGATCCAGAGGCCAG	0.512000														25			4		0	0	0.00024832	0	0
ZNF426	79088	broad.mit.edu	37	19	9640053	9640053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9640053G>A	uc002mlq.3	-	7	932	c.668C>T	c.(667-669)tCa>tTa	p.S223L	ZNF426_uc010dws.3_Missense_Mutation_p.S185L	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACATTCAAATGACTTTTCTTG	0.373000														152			33		0	0	0.000437636	0	0
WDR72	256764	broad.mit.edu	37	15	54005060	54005060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54005060G>A	uc002acj.2	-	6	662	c.620C>T	c.(619-621)tCc>tTc	p.S207F	WDR72_uc010bfi.1_Missense_Mutation_p.S207F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	207										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGAAACTTGGATTCTTTTTC	0.353000														52			7		0	0	8.12818e-05	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919744	12919744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12919744G>A	uc001aum.1	+	2	571	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	162										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCAGGATGAATGCCTGAG	0.468000														211			20		0	0	0.00047179	0	0
SPTA1	6708	broad.mit.edu	37	1	158639557	158639557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158639557G>A	uc001fst.1	-	12	1818	c.1619C>T	c.(1618-1620)aCc>aTc	p.T540I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	540					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCAATTTGGTTGCAGTCTT	0.413000														118			10		0	0	0.000442599	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960241	73960241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:73960241C>T	uc004eby.3	-	2	4768	c.4151G>A	c.(4150-4152)gGg>gAg	p.G1384E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1384					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCTTGGGACCCACTGTTGAT	0.448000														40			16		0	0	0.00074312	0	0
ABCA9	10350	broad.mit.edu	37	17	66981062	66981062	+	Missense_Mutation	SNP	G	A	A	rs142934607		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:66981062G>A	uc002jhu.3	-	33	4486	c.4343C>T	c.(4342-4344)tCg>tTg	p.S1448L	ABCA9_uc010dez.3_Missense_Mutation_p.S1410L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1448	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.S1448S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATCCCGGTCGACGGCTCATC	0.572000														45			7		0	0	0.000157383	0	0
ZFP14	57677	broad.mit.edu	37	19	36831250	36831250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36831250G>A	uc010xtd.2	-	3	1560	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	ZFP14_uc010eex.2_Missense_Mutation_p.S493L	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGTAAGAAATGAATAAAGTCT	0.403000														34			12		0	0	0.000978159	0	0
WNT5A	7474	broad.mit.edu	37	3	55504141	55504141	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:55504141C>T	uc003dhn.3	-	4	1440	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	WNT5A_uc003dhm.3_Silent_p.V359V|WNT5A_uc010hmw.3_Silent_p.V359V|WNT5A_uc010hmx.3_Silent_p.V285V	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	374					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R374Q(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CAAACTGGTCCACGATCTCCG	0.547000														52			5		0	0	8.12818e-05	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813820	106813820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:106813820C>T	uc003ymd.3	+	7	1533	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P235S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	504					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTTTTCTTTCCCCCAAGATAT	0.507000														93			6		0	0	8.12818e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38760156	38760156	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38760156G>A	uc003ciq.3	-	19	3669	c.3669C>T	c.(3667-3669)ttC>ttT	p.F1223F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1223					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACAATGAGGAAGTCCAGCC	0.527000														53			5		0	0	8.12818e-05	0	0
PIR	8544	broad.mit.edu	37	X	15509431	15509431	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:15509431G>A	uc004cwu.3	-	2	434	c.-51_splice	c.e2-1		FIGF_uc022bth.1_Splice_Site|PIR_uc004cwv.3_Splice_Site|BMX_uc004cww.3_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.						transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					GAGGATGGAGGGCTAAAGGAA	0.423000														16			4		0	0	0.00024832	0	0
DNAH5	1767	broad.mit.edu	37	5	13753656	13753656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13753656C>T	uc003jfd.2	-	62	10600	c.10558G>A	c.(10558-10560)Gat>Aat	p.D3520N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3520					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACAGTACATCCCCTAAAATA	0.338000									Kartagener syndrome					87			5		0	0	0.00116845	0	0
FGF12	2257	broad.mit.edu	37	3	191888290	191888290	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:191888290C>T	uc003fsx.3	-	3	1396	c.570G>A	c.(568-570)aaG>aaA	p.K190K	FGF12_uc003fsy.3_Silent_p.K128K	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	190				K -> E (in Ref. 2; AAB18786).	JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GCTTGGTTTTCTTCACTCTGT	0.428000														107			21		0	0	0.00152264	0	0
XKR4	114786	broad.mit.edu	37	8	56015353	56015353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:56015353G>A	uc003xsf.3	+	0	337	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	102						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGCCTGGGCAGGGAGCAGCGG	0.781000														24			6		0	0	0.00116845	0	0
TUB	7275	broad.mit.edu	37	11	8111718	8111718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:8111718G>A	uc001mga.3	+	2	342	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TUB_uc010rbk.2_Missense_Mutation_p.E71K|TUB_uc001mfy.3_Missense_Mutation_p.E120K	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	65					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ccggcAGTCAGAGGAACAAGC	0.657000														32			5		0	0	8.12818e-05	0	0
OR10J1	26476	broad.mit.edu	37	1	159410383	159410383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159410383G>A	uc010piv.2	+	0	872	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	279					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GAACACCAGAGAACATGACCA	0.512000														30			13		0	0	0.00185496	0	0
CARS	833	broad.mit.edu	37	11	3028115	3028116	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:3028115_3028116GG>AA	uc001lxf.3	-	18	2226_2227	c.2142_2143CC>TT	c.(2140-2145)gaccac>gaTTac	p.H715Y	CARS_uc009ydu.3_Non-coding_Transcript|CARS_uc010qxo.2_Missense_Mutation_p.H715Y|CARS_uc001lxe.3_Missense_Mutation_p.H622Y|CARS_uc001lxg.3_Missense_Mutation_p.H632Y|CARS_uc001lxh.3_Missense_Mutation_p.H632Y|CARS_uc010qxp.2_Missense_Mutation_p.H645Y	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	632					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCACCTTCGTGGTCTTCAAACC	0.589000			T	ALK	ALCL									107			20		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	204064093	204064094	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:204064093_204064094CC>AA	uc002uzt.3	+	47	7407_7408	c.7074_7075CC>AA	c.(7072-7077)acccat>acAAat	p.H2359N	NBEAL1_uc021vvj.1_Missense_Mutation_p.H993N	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2359							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTATTGGAACCCATGGATGGTT	0.312000														633			11		0	0	6.4e-05	0	0
MATN3	4148	broad.mit.edu	37	2	20205995	20205995	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:20205995G>A	uc002rdl.3	-	1	363	c.300C>T	c.(298-300)acC>acT	p.T100T	MATN3_uc010exu.1_Silent_p.T100T	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	100	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCACTTTGGTGAATTCCA	0.502000														15			4		0	0	0.000602214	0	0
MYCN	4613	broad.mit.edu	37	2	16086192	16086192	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:16086192G>A	uc002rci.3	+	2	1668	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	MYCN_uc010yjr.2_Silent_p.K456K	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	456					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGTTGCTAAAGAAAATTGAAC	0.438000			A		neuroblastoma									94			23		0	0	0.000375601	0	0
SLC25A31	83447	broad.mit.edu	37	4	128689927	128689927	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:128689927G>A	uc003ifl.3	+	4	800	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	218					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.K218K(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAAAGCCAAAGAAAACTCCAT	0.308000														58			8		0	0	0.000157383	0	0
MCOLN2	255231	broad.mit.edu	37	1	85406603	85406603	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:85406603G>A	uc001dkm.3	-	7	1160	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	307						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTTGTACACAGAATAAGAGAT	0.428000														24			8		0	0	0.000274275	0	0
LILRB5	10990	broad.mit.edu	37	19	54760074	54760074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54760074G>A	uc010yer.1	-	3	571	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.P163S|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.P163S|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	163	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTCCTGGGGAGCTTCTGT	0.582000														42			7		0	0	8.12818e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778464	140778464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140778464C>T	uc003lkf.2	+	0	770	c.770C>T	c.(769-771)cCa>cTa	p.P257L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.P257L	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	257	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGTGCCACCAGGCACCACT	0.522000														70			17		0	0	0.000958276	0	0
ZNRF3	84133	broad.mit.edu	37	22	29444428	29444428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:29444428C>T	uc003aeg.3	+	6	964	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	ZNRF3_uc021wnq.1_Missense_Mutation_p.P222S	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	322						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GTGCGTGGACCCCTGGCTGCT	0.597000														48			6		0	0	0.000274275	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290912	141290912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:141290912C>T	uc022cfj.1	-	0	862	c.862G>A	c.(862-864)Gag>Aag	p.E288K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E288K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	288	MAGE.					cytoplasm|nucleus		p.R287L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGCACCTCCCGATACTCC	0.507000										HNSCC(46;0.14)				21			5		0	0	0.00116845	0	0
C22orf28	51493	broad.mit.edu	37	22	32791048	32791048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:32791048G>A	uc003amm.2	-	8	1275	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S		NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	382					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGTGAGGAGGGAAAGCGCGG	0.478000														61			7		0	0	0.000274275	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899988	151899988	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:151899988G>A	uc022chj.1	-	0	813	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.F271F|MAGEA12_uc022chi.1_Silent_p.F271F|MAGEA12_uc004fgc.3_Silent_p.F271F	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	271	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGAACTCGTAGC	0.552000														40			15		0	0	0.000566183	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779371	56779371	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:56779371G>A	uc003dih.2	-	9	938	c.828C>T	c.(826-828)tcC>tcT	p.S276S	ARHGEF3_uc011bew.1_Silent_p.S244S|ARHGEF3_uc011bev.1_Silent_p.S215S|ARHGEF3_uc003dif.2_Silent_p.S250S|ARHGEF3_uc003dig.2_Silent_p.S244S|ARHGEF3_uc010hmy.1_Silent_p.S42S|ARHGEF3_uc003dii.2_Silent_p.S244S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	244	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGCTAAAGGGGGATTCTAAAC	0.478000														228			27		0	0	0.001512	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896728	205896728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:205896728C>T	uc001hdp.3	-	9	1221	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SLC26A9_uc001hdo.3_Missense_Mutation_p.M37I|SLC26A9_uc001hdq.3_Missense_Mutation_p.M369I	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	369						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGAGAGCGATCATCTCCTGCA	0.557000														28			7		0	0	8.12818e-05	0	0
NPHP1	4867	broad.mit.edu	37	2	110904405	110904405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:110904405C>T	uc002tfn.4	-	13	1536	c.1442G>A	c.(1441-1443)gGt>gAt	p.G481D	NPHP1_uc002tfm.4_Missense_Mutation_p.G426D|NPHP1_uc002tfl.4_Missense_Mutation_p.G482D|NPHP1_uc002tfo.4_Missense_Mutation_p.G363D|NPHP1_uc010ywx.2_Missense_Mutation_p.G425D|NPHP1_uc010fjv.1_Missense_Mutation_p.G425D	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	481					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCCTCTTTCACCAGTTGACTA	0.358000														57			6		0	0	8.12818e-05	0	0
ITGB4	3691	broad.mit.edu	37	17	73725385	73725385	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:73725385C>T	uc002jpg.3	+	6	793	c.606C>T	c.(604-606)tcC>tcT	p.S202S	ITGB4_uc002jph.3_Silent_p.S202S|ITGB4_uc010dgo.3_Silent_p.S202S|ITGB4_uc002jpi.4_Silent_p.S202S|ITGB4_uc010dgp.1_Silent_p.S202S|ITGB4_uc002jpj.3_Silent_p.S202S|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	202	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCTTCTCCTTCAAGAACG	0.607000														34			6		0	0	0.000274275	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554780	140554780	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140554780G>A	uc003lit.3	+	0	2538	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	788					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCATTTCAGAATAATTTGG	0.438000														138			9		0	0	0.000673444	0	0
TECRL	253017	broad.mit.edu	37	4	65194254	65194254	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:65194254G>A	uc003hcv.3	-	2	416	c.307C>T	c.(307-309)Cga>Tga	p.R103*	TECRL_uc003hcw.3_Nonsense_Mutation_p.R103*	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	103					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGACCAACTCGAGAAGGGTAC	0.323000														76			9		0	0	0.000673444	0	0
TRIM24	8805	broad.mit.edu	37	7	138239558	138239558	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138239558C>T	uc003vuc.3	+	8	1592	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	TRIM24_uc003vub.3_Silent_p.F459F|TRIM24_uc022amn.1_Silent_p.F417F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	459					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TATCCAAGTTCCCAACACAGA	0.498000														67			20		0	0	0.00152264	0	0
GALNTL4	374378	broad.mit.edu	37	11	11398774	11398774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:11398774G>A	uc001mjo.2	-	4	1353	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	311						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGCCTTGGGGGGATTTAGGTA	0.537000														52			5		0	0	0.00116845	0	0
TSG101	7251	broad.mit.edu	37	11	18503293	18503293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18503293G>A	uc001mor.3	-	8	1107	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	323	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TTGTATAAGGGAGCTGTGGGA	0.388000														126			7		0	0	0.000157383	0	0
GNPTAB	79158	broad.mit.edu	37	12	102163906	102163906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:102163906G>A	uc001tit.3	-	9	1369	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	GNPTAB_uc001tiu.2_Missense_Mutation_p.H393Y	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	393					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCGATGCGATGAATGTGACTT	0.388000														145			44		0	0	0.000781405	0	0
RGNEF	64283	broad.mit.edu	37	5	73160698	73160698	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:73160698G>A	uc010izf.3	+	17	2279	c.2103_splice	c.e17+1	p.K701_splice	RGNEF_uc011csq.2_Splice_Site_p.K701_splice|RGNEF_uc021yam.1_Splice_Site_p.K701_splice|RGNEF_uc011csr.2_Splice_Site_p.K388_splice	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	701					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATGCACCAAGGTAATTGCTCA	0.343000														39			5		0	0	0.00116845	0	0
INTU	27152	broad.mit.edu	37	4	128584691	128584691	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:128584691C>T	uc003ifk.2	+	3	1027	c.924C>T	c.(922-924)atC>atT	p.I308I	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	308								p.H307L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTCCTCATATCATTATGTATC	0.433000														42			6		0	0	8.12818e-05	0	0
UNC13A	23025	broad.mit.edu	37	19	17720794	17720794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:17720794G>A	uc021uqk.1	-	41	4805	c.4763C>T	c.(4762-4764)tCc>tTc	p.S1588F		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1589	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATTGTTCTTGGATTTGGTCGC	0.547000														76			7		0	0	0.000157383	0	0
PLS1	5357	broad.mit.edu	37	3	142405175	142405175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142405175G>A	uc010huv.3	+	8	1097	c.938G>A	c.(937-939)gGg>gAg	p.G313E	PLS1_uc003euz.3_Missense_Mutation_p.G313E|PLS1_uc003eva.3_Missense_Mutation_p.G313E	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	313	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CCTAAAGGTGGGGAAGATGGA	0.338000														103			24		0	0	0.00106085	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605694	5605694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrY:5605694C>T	uc004fqo.3	+	4	4468	c.3734C>T	c.(3733-3735)gCt>gTt	p.A1245V	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1245					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAGCACAGGCTGCTGCAATC	0.567000														42			6		0	0	8.12818e-05	0	0
SUGP2	10147	broad.mit.edu	37	19	19112482	19112482	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:19112482G>A	uc002nkz.1	-	8	2992	c.2972_splice	c.e8-1	p.V991_splice	SUGP2_uc002nkx.2_Splice_Site_p.V977_splice|SUGP2_uc002nla.1_Splice_Site_p.V977_splice|SUGP2_uc002nlb.2_Splice_Site_p.V977_splice|SUGP2_uc010xqk.1_Splice_Site_p.V746_splice	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	977					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGGTTCATGGACTAGAAGAC	0.413000														81			13		0	0	0.00185496	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921378	12921378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12921378C>T	uc001aum.1	+	3	1256	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	390								p.S390P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCATGTCTATTGACGCC	0.562000														80			9		0	0	0.000673444	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368537	86368537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:86368537C>T	uc001vll.1	-	1	2566	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	SLITRK6_uc021rla.1_Missense_Mutation_p.E703K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	703						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTCTCTTCTTCCTCTTCCAGA	0.433000														45			5		0	0	0.00116845	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450299	49450299	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:49450299A>C	uc001jgi.3	-	4	803	c.472T>G	c.(472-474)Tgt>Ggt	p.C158G	FRMPD2_uc001jgh.3_Missense_Mutation_p.C127G|FRMPD2_uc001jgj.3_Missense_Mutation_p.C127G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	158	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGAACCCGACAAGCTTCCAGA	0.582000														67			8		0	0	0.000274275	0	0
NOD2	64127	broad.mit.edu	37	16	50745443	50745443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:50745443C>T	uc002egm.1	+	3	1726	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	NOD2_uc021tia.1_Missense_Mutation_p.R373W|NOD2_uc010cbk.1_Missense_Mutation_p.R514W|NOD2_uc002egl.1_Missense_Mutation_p.R319W|NOD2_uc010cbl.1_Missense_Mutation_p.R319W|NOD2_uc010cbm.1_Missense_Mutation_p.R319W|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	541	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGTCTTCTTCGGGGCCGCCT	0.607000														34			6		0	0	8.12818e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31617056	31617056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31617056G>A	uc003nvg.4	-	3	657	c.343C>T	c.(343-345)Cct>Tct	p.P115S	BAG6_uc003nvf.4_Missense_Mutation_p.P115S|BAG6_uc003nvi.4_Missense_Mutation_p.P115S|BAG6_uc003nvh.4_Missense_Mutation_p.P115S|BAG6_uc011dnw.2_Missense_Mutation_p.P115S|BAG6_uc011dnx.2_Missense_Mutation_p.P115S	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	115					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGAGTACCAGGGGGGGATCCC	0.587000														242			17		0	0	0.000958276	0	0
OR13D1	286365	broad.mit.edu	37	9	107457149	107457149	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:107457149G>A	uc011lvs.2	+	0	447	c.447G>A	c.(445-447)gtG>gtA	p.V149V		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCCTGGCTGTGATGGCCTATG	0.507000														63			9		0	0	0.000274275	0	0
C8B	732	broad.mit.edu	37	1	57425727	57425727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57425727G>A	uc001cyp.3	-	1	282	c.215C>T	c.(214-216)tCt>tTt	p.S72F	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.S20F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	72	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTGGTCCAAGAGGACCAACT	0.522000														31			6		0	0	8.12818e-05	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911432	74911432	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:74911432G>A	uc001owb.3	+	11	2158	c.1763_splice	c.e11+1	p.R588_splice	SLCO2B1_uc010rrq.2_Splice_Site_p.R333_splice|SLCO2B1_uc010rrr.2_Splice_Site_p.R444_splice|SLCO2B1_uc010rrs.2_Splice_Site_p.R472_splice|SLCO2B1_uc001owc.3_Splice_Site_p.R361_splice|SLCO2B1_uc001owd.3_Splice_Site_p.R566_splice	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	588					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTCATCCTAAGGTGAAGGTGG	0.602000														66			6		0	0	0.00116845	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863489	128863489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:128863489C>T	uc003kvb.1	+	4	1117	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTCAATCTTCGTGTGATAAA	0.294000														101			17		0	0	0.000958276	0	0
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:23906653G>A	uc001uon.2	-	9	11951	c.11362C>T	c.(11362-11364)Cgt>Tgt	p.R3788C	SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.R3641C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383000														58			10		0	0	0.000978159	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977918	120977918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:120977918C>T	uc003eec.4	+	17	2001	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	STXBP5L_uc011bji.2_Missense_Mutation_p.P621S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	621					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCGAATGCCTCCAGGATATCA	0.378000														33			7		0	0	0.000157383	0	0
UBE2I	7329	broad.mit.edu	37	16	1364364	1364364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:1364364C>T	uc002clc.2	+	2	267	c.137C>T	c.(136-138)cCa>cTa	p.P46L	UBE2I_uc002cld.2_Missense_Mutation_p.P46L|UBE2I_uc002cle.2_Missense_Mutation_p.P46L|UBE2I_uc002clf.2_Missense_Mutation_p.P46L|UBE2I_uc002clg.2_Missense_Mutation_p.P46L|UBE2I_uc002clh.1_Missense_Mutation_p.P46L|UBE2I_uc002cli.1_Missense_Mutation_p.P46L	NM_194261	NP_919237	P63279	UBC9_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2I (UBE2I), transcript variant 4, mRNA.	46					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	PML body|cytoplasm|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				TGCGCCATTCCAGGAAAGAAA	0.572000														32			5		0	0	0.00116845	0	0
DLEC1	9940	broad.mit.edu	37	3	38141900	38141900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38141900G>A	uc003chp.1	+	18	2869	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	DLEC1_uc003cho.1_Missense_Mutation_p.E950K|DLEC1_uc010hgv.1_Missense_Mutation_p.E950K|DLEC1_uc003chr.1_Missense_Mutation_p.E56K|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	950					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGGAGGTGGAAAATGGTGC	0.502000														61			8		0	0	0.000673444	0	0
SP140	11262	broad.mit.edu	37	2	231102934	231102934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231102934C>T	uc002vql.3	+	2	359	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Nonsense_Mutation_p.Q82*|SP140_uc002vqk.2_Nonsense_Mutation_p.Q82*|SP140_uc002vqn.3_Nonsense_Mutation_p.Q82*|SP140_uc002vqm.3_Nonsense_Mutation_p.Q82*|SP140_uc010fxl.3_Nonsense_Mutation_p.Q82*	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	82	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAGCATTTTCAAGAAGCTTT	0.358000														55			6		0	0	0.00116845	0	0
TTLL2	83887	broad.mit.edu	37	6	167754713	167754713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:167754713G>A	uc003qvs.1	+	2	1413	c.1325G>A	c.(1324-1326)aGt>aAt	p.S442N		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	442					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.K441T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCTGCAAAAAGTGACAGAGGT	0.433000														69			5		0	0	0.00116845	0	0
OR1J4	26219	broad.mit.edu	37	9	125281534	125281534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125281534G>A	uc011lyw.2	+	0	115	c.115G>A	c.(115-117)Gtg>Atg	p.V39M		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTGATCACGGTGCTGGGGAA	0.567000														74			7		0	0	8.12818e-05	0	0
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:28493824C>T	uc003nll.2	+	0	36	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	GPX5_uc003nlm.2_Missense_Mutation_p.P12S|GPX5_uc003nln.2_5'Flank	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498000														127			10		0	0	0.00136819	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671241	233671241	+	Silent	SNP	G	A	A	rs142567233		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:233671241G>A	uc002vtj.4	+	16	2010	c.1743G>A	c.(1741-1743)gcG>gcA	p.A581A	GIGYF2_uc010zmj.1_Silent_p.A560A|GIGYF2_uc002vtg.2_Silent_p.A554A|GIGYF2_uc002vti.4_Silent_p.A560A|GIGYF2_uc002vtk.4_Silent_p.A560A|GIGYF2_uc002vth.4_Silent_p.A554A|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Silent_p.A391A	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	560	GYF.				cell death		protein binding	p.A581A(1)|p.A560A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGTTTCAGGCGGGCTATTTTA	0.408000														134			9		0	0	0.00185496	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156910002	156910002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156910002C>T	uc001fqo.3	-	34	4650	c.3610G>A	c.(3610-3612)Gat>Aat	p.D1204N	ARHGEF11_uc010phu.2_Missense_Mutation_p.D620N|ARHGEF11_uc001fqn.3_Missense_Mutation_p.D1244N	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1204					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACTCACCATCTTCCAGAGCG	0.632000														26			10		0	0	0.000978159	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269236	150269236	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150269236C>T	uc003whl.3	+	2	160	c.78C>T	c.(76-78)ccC>ccT	p.P26P	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Silent_p.P40P	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	26							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAAGAGCCCAGAAATTCCC	0.468000														63			11		0	0	0.000978159	0	0
SACS	26278	broad.mit.edu	37	13	23913632	23913632	+	Silent	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:23913632A>C	uc001uon.2	-	9	4972	c.4383T>G	c.(4381-4383)acT>acG	p.T1461T	SACS_uc001uoo.2_Silent_p.T1314T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1461					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATTCTTACAGTAAGTGGCT	0.363000														100			7		0	0	8.12818e-05	0	0
ROR2	4920	broad.mit.edu	37	9	94499761	94499761	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:94499761C>T	uc004arj.2	-	4	733	c.534G>A	c.(532-534)cgG>cgA	p.R178R	ROR2_uc004ari.1_Silent_p.R38R|ROR2_uc004ark.3_Silent_p.R178R	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGCAATTCCCCGGTAAGGCT	0.532000														37			9		0	0	0.000673444	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74929184	74929184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:74929184C>T	uc001dge.2	+	22	2441	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.P792S|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P691S	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	691						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CTATTCCATTCCCAAGCCCAT	0.443000														134			17		0	0	0.000958276	0	0
CAPG	822	broad.mit.edu	37	2	85628968	85628968	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:85628968C>A	uc010fgi.1	-	2	213	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	CAPG_uc002spm.1_Missense_Mutation_p.D46Y|CAPG_uc002spl.1_Missense_Mutation_p.D46Y|CAPG_uc010fgj.1_5'Flank	NM_001747	NP_001738	P40121	CAPG_HUMAN	Homo sapiens capping protein (actin filament), gelsolin-like (CAPG), transcript variant 1, mRNA.	46					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGGTAGGAGTCCCCCGAGAAG	0.612000														65			11		2.61681e-11	1.36316e-10	0.000219431	1	0
TRIM54	57159	broad.mit.edu	37	2	27521556	27521556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:27521556G>A	uc002rjo.3	+	1	593	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TRIM54_uc002rjn.3_Missense_Mutation_p.R97Q	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	97					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	p.R81Q(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGCAGCGAAACCTGCTA	0.572000														29			6		0	0	0.000157383	0	0
CD97	976	broad.mit.edu	37	19	14513433	14513433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14513433C>T	uc002myl.3	+	11	1588	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CD97_uc002mym.3_Missense_Mutation_p.S354F|CD97_uc002myn.3_Missense_Mutation_p.S310F	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	403					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCATCCTCTCCATCCAGAAC	0.572000														65			5		0	0	0.000602214	0	0
C12orf40	283461	broad.mit.edu	37	12	40114666	40114666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:40114666G>A	uc001rmc.3	+	12	1739	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	524										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGGAAAAAATGAATAATTTTT	0.299000														37			7		0	0	0.000274275	0	0
TM9SF1	10548	broad.mit.edu	37	14	24661379	24661379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:24661379G>A	uc010tob.1	-	7	2490	c.1856C>T	c.(1855-1857)tCt>tTt	p.S619F	IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Missense_Mutation_p.S384F|TM9SF1_uc010toa.1_Missense_Mutation_p.S297F|TM9SF1_uc001wnc.3_Missense_Mutation_p.S384F	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	384					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GTCCTCACCAGAGAAGAGACT	0.532000														95			6		0	0	0.00116845	0	0
DISP2	85455	broad.mit.edu	37	15	40655956	40655956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40655956C>T	uc001zlk.1	+	1	339	c.250C>T	c.(250-252)Cca>Tca	p.P84S		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	84					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCTGTGGGTCCATCCAGCCC	0.647000														32			5		0	0	0.000602214	0	0
ST14	6768	broad.mit.edu	37	11	130058514	130058514	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:130058514A>G	uc001qfw.3	+	2	524	c.331A>G	c.(331-333)Act>Gct	p.T111A	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	111					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTCCAACTCCACTGAGTTTGT	0.567000														74			8		0	0	0.000157383	0	0
PROL1	58503	broad.mit.edu	37	4	71275270	71275270	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:71275270C>T	uc003hfi.3	+	2	399	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	75	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATCTTCTTTCTCTCGATTTA	0.463000														146			16		0	0	0.00074312	0	0
GABRR1	2569	broad.mit.edu	37	6	89910965	89910965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:89910965G>A	uc003pna.2	-	2	648	c.193C>T	c.(193-195)Cct>Tct	p.P65S	GABRR1_uc011dzv.1_Missense_Mutation_p.P42S	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	65					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S64S(1)|p.P59S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTGATGTCAGGACTTCGTCTC	0.453000														80			6		0	0	8.12818e-05	0	0
TNR	7143	broad.mit.edu	37	1	175372651	175372651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:175372651C>T	uc001gkp.1	-	1	682	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TNR_uc009wwu.1_Missense_Mutation_p.E201K|TNR_uc010pmz.1_Missense_Mutation_p.E201K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	201	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S200L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGTAGGGCTCCGAGCAATTC	0.582000														64			22		0	0	0.000586117	0	0
ZNF142	7701	broad.mit.edu	37	2	219508926	219508926	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:219508926G>A	uc002vin.3	-	7	2749	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	ZNF142_uc002vil.3_Silent_p.S732S|ZNF142_uc010fvt.3_Silent_p.S608S|ZNF142_uc002vim.3_Silent_p.S608S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCCTCTAAGGATGGAGGAT	0.493000														84			11		0	0	0.000673444	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212723	134212723	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:134212723C>T	uc001qhp.3	+	1	350	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	54					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCTGGAACTTCATGCTGGAGG	0.602000														43			8		0	0	0.000157383	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568496	140568496	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140568496C>T	uc003liw.1	+	1	1602	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	535	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCCTCAGACCGCGGCTCCC	0.662000														46			10		0	0	0.000442599	0	0
RNASEH1	246243	broad.mit.edu	37	2	3595539	3595539	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:3595539C>T	uc002qxt.3	-	6	846	c.756G>A	c.(754-756)caG>caA	p.Q252Q	RNASEH1_uc002qxs.3_Silent_p.Q135Q	NM_002936	NP_002927	O60930	RNH1_HUMAN	Homo sapiens ribonuclease H1 (RNASEH1), mRNA.	252	RNase H.				RNA catabolic process	cytoplasm	RNA binding|magnesium ion binding|ribonuclease H activity	p.Q252K(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGTCCATCCCCTGGGTAAGCC	0.423000														95			9		0	0	0.000274275	0	0
DNAH9	1770	broad.mit.edu	37	17	11787003	11787003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:11787003G>A	uc002gne.3	+	55	10975	c.10907G>A	c.(10906-10908)gGa>gAa	p.G3636E	DNAH9_uc010coo.3_Missense_Mutation_p.G2930E|DNAH9_uc002gnf.3_5'UTR|DNAH9_uc010vvh.1_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3636	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCTGGGAGAAACAGTG	0.498000														56			8		0	0	0.000157383	0	0
OR5K3	403277	broad.mit.edu	37	3	98109976	98109977	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:98109976_98109977CC>TT	uc011bgw.2	+	0	467_468	c.467_468CC>TT	c.(466-468)ccc>cTT	p.P156L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P156S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AACCTGCATCCCATGATTGAAG	0.426000														72			12		0	0	6.4e-05	0	0
MID2	11043	broad.mit.edu	37	X	107169345	107169345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107169345C>T	uc004enl.3	+	8	2192	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	MID2_uc004enk.3_Missense_Mutation_p.P510L	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	540	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAATTGGATCCCAAAATGACT	0.373000														34			8		0	0	0.000673444	0	0
TGM3	7053	broad.mit.edu	37	20	2308866	2308866	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2308866C>T	uc002wfx.4	+	8	1285	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	396					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTAATGCCGACCGCATCACCT	0.562000														38			13		0	0	0.000308642	0	0
CMPK2	129607	broad.mit.edu	37	2	6990018	6990019	+	Missense_Mutation	DNP	AC	GT	GT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:6990018_6990019AC>GT	uc002qyo.3	-	4	1421_1422	c.1312_1313GT>AC	c.(1312-1314)gta>ACa	p.V438T	CMPK2_uc002qyn.1_Splice_Site|CMPK2_uc010yis.1_Intron	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	438					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGGCTTAATACCGTCTGCAGG	0.485000														95			12		0	0	6.4e-05	0	0
TRPC5	7224	broad.mit.edu	37	X	111097061	111097061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:111097061C>T	uc004epl.1	-	3	2093	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	TRPC5_uc004epm.1_Missense_Mutation_p.D392N	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	392					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATGAAGGTCTGTCCTGACA	0.488000														32			14		0	0	0.000566183	0	0
KL	9365	broad.mit.edu	37	13	33635284	33635284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:33635284C>T	uc001uus.3	+	3	2076	c.2068C>T	c.(2068-2070)Ccg>Tcg	p.P690S	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	690	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATGAATGAGCCGTATACAAG	0.507000														46			15		0	0	0.000308642	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995238	140995238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:140995238C>T	uc004fbt.3	+	3	2372	c.2048C>T	c.(2047-2049)cCt>cTt	p.P683L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P342L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	683							protein binding	p.P683S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTGCTCCTGAGGGGGAG	0.572000										HNSCC(15;0.026)				20			7		0	0	0.000157383	0	0
PCDH15	65217	broad.mit.edu	37	10	55591215	55591215	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:55591215G>A	uc010qhy.1	-	30	4472	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I	PCDH15_uc010qhq.2_Silent_p.I1359I|PCDH15_uc010qhr.2_Silent_p.I1354I|PCDH15_uc021pqv.1_Silent_p.I1354I|PCDH15_uc021pqw.1_Silent_p.I1366I|PCDH15_uc010qht.2_Silent_p.I1361I|PCDH15_uc021pqx.1_Silent_p.I1354I|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.I1354I|PCDH15_uc021pqz.1_Silent_p.I1332I|PCDH15_uc010qhv.1_Silent_p.I1354I|PCDH15_uc010qhw.1_Silent_p.I1317I|PCDH15_uc010qhx.1_Silent_p.I1283I|PCDH15_uc010qhz.1_Silent_p.I1354I|PCDH15_uc010qia.1_Silent_p.I1332I|PCDH15_uc001jju.1_Silent_p.I1354I|PCDH15_uc010qib.1_Silent_p.I1332I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1354					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGGAGTCCGGATCTCCAGAA	0.433000										HNSCC(58;0.16)				54			5		0	0	0.000602214	0	0
RASL11A	387496	broad.mit.edu	37	13	27847599	27847599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:27847599C>T	uc001urd.1	+	3	1315	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	233	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GGCTCTGTCTCCCAAAGTCAA	0.547000														28			6		0	0	8.12818e-05	0	0
TRIM55	84675	broad.mit.edu	37	8	67047381	67047381	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:67047381G>A	uc003xvv.3	+	2	724	c.498G>A	c.(496-498)caG>caA	p.Q166Q	TRIM55_uc003xvu.3_Silent_p.Q166Q|TRIM55_uc003xvw.3_Silent_p.Q166Q|TRIM55_uc003xvx.3_Silent_p.Q166Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	166						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.Q166Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATGTGTTCCAGAGACAGAAGG	0.592000														59			9		0	0	0.000442599	0	0
CTSL3	392360	broad.mit.edu	37	9	90396141	90396141	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:90396141C>A	uc004apm.1	+	3	517	c.511C>A	c.(511-513)Cag>Aag	p.Q171K						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						tgaggtggcacaggtcatcac	0.468000														31			4		0.000602214	0.00310189	0.000602214	1	0
DNAH3	55567	broad.mit.edu	37	16	20966243	20966243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20966243G>A	uc010vbe.2	-	54	10963	c.10963C>T	c.(10963-10965)Cct>Tct	p.P3655S	DNAH3_uc010vbd.2_Missense_Mutation_p.P1090S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3655	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGAACACAGGATCTGAGATG	0.498000														122			19		0	0	0.00188189	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41055945	41055945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:41055945G>A	uc003jmj.4	-	9	1422	c.932C>T	c.(931-933)cCt>cTt	p.P311L	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	311							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGCTCTCCAGGATTGGAATG	0.398000														77			15		0	0	0.00074312	0	0
ANK2	287	broad.mit.edu	37	4	114275534	114275534	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:114275534G>A	uc003ibe.4	+	37	5860	c.5760G>A	c.(5758-5760)ggG>ggA	p.G1920G	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.G1935G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1887	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S1919S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGCCCTCCGGGAGGACAGAAA	0.517000														16			6		0	0	8.12818e-05	0	0
PPARG	5468	broad.mit.edu	37	3	12458493	12458494	+	Nonsense_Mutation	DNP	CG	AT	AT	rs142289300	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:12458493_12458494CG>AT	uc003bwx.3	+	5	1201_1202	c.1110_1111CG>AT	c.(1108-1113)tccgag>tcATag	p.E371*	PPARG_uc003bwr.3_Nonsense_Mutation_p.E343*|PPARG_uc003bws.3_Nonsense_Mutation_p.E343*|PPARG_uc003bwu.3_Nonsense_Mutation_p.E343*|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	371	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TTCTCATATCCGAGGGCCAAGG	0.450000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							375			15		0	0	6.4e-05	0	0
DNAH8	1769	broad.mit.edu	37	6	38704988	38704988	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:38704988A>T	uc021yzh.1	+	5	1017	c.908A>T	c.(907-909)cAt>cTt	p.H303L	DNAH8_uc003ooe.2_Missense_Mutation_p.H86L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.T302T(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGAAAAACATATTTTCACT	0.323000														66			5		0	0	0.00116845	0	0
DMXL2	23312	broad.mit.edu	37	15	51773525	51773525	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:51773525G>A	uc010ufy.2	-	23	6003	c.5778C>T	c.(5776-5778)ttC>ttT	p.F1926F	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Silent_p.F1926F|DMXL2_uc010bfa.3_Silent_p.F1290F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1926						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTGAGAAATGAAGTCAGGCT	0.398000														177			36		0	0	0.000692331	0	0
MAP3K8	1326	broad.mit.edu	37	10	30749660	30749660	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30749660G>A	uc001ivi.2	+	8	1911	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	MAP3K8_uc009xlf.2_Silent_p.E433E|MAP3K8_uc001ivj.2_Silent_p.E433E	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	433			Missing (in oncogenic form).		T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAAGCACCGAGGAATCTGAGA	0.458000														57			9		0	0	0.000274275	0	0
EHHADH	1962	broad.mit.edu	37	3	184947266	184947266	+	Silent	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:184947266G>C	uc003fpf.3	-	3	493	c.417C>G	c.(415-417)ctC>ctG	p.L139L	EHHADH_uc011brs.2_Silent_p.L43L	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	139	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGAGTCTGGGGAGAAGCTGGG	0.463000														24			5		0	0	8.12818e-05	0	0
PDE3A	5139	broad.mit.edu	37	12	20790115	20790115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:20790115C>T	uc001reh.2	+	8	2123	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	PDE3A_uc021qwa.1_Missense_Mutation_p.P373S	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	695					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGGAATTTTCCAATTTTTGA	0.333000														42			12		0	0	0.00185496	0	0
KCNH1	3756	broad.mit.edu	37	1	211093211	211093211	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:211093211C>T	uc001hib.2	-	6	1403	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	KCNH1_uc001hic.2_Silent_p.K384K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	411					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGCGGATTGTCTTGGTGTCCT	0.547000														48			5		0	0	8.12818e-05	0	0
ASTN2	23245	broad.mit.edu	37	9	119380722	119380722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:119380722G>A	uc004bjt.2	-	17	3184	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	ASTN2_uc022bml.1_Missense_Mutation_p.S724F|ASTN2_uc022bmm.1_Missense_Mutation_p.S728F|ASTN2_uc004bjp.2_Missense_Mutation_p.S180F|ASTN2_uc011lxr.2_Missense_Mutation_p.S131F|ASTN2_uc011lxs.2_Missense_Mutation_p.S131F|ASTN2_uc011lxt.2_Missense_Mutation_p.S131F|ASTN2_uc004bjq.2_Missense_Mutation_p.S131F|ASTN2_uc022bmn.1_Missense_Mutation_p.S131F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1079						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACAGTACTGGAGGGCTCCAC	0.522000														28			7		0	0	0.000274275	0	0
HTR2A	3356	broad.mit.edu	37	13	47470038	47470038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:47470038C>T	uc010acr.3	-	1	693	c.4G>A	c.(4-6)Gat>Aat	p.D2N	HTR2A_uc001vbr.3_Intron	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	2					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAAAGAATATCCATGTCTAAG	0.408000														49			7		0	0	0.000157383	0	0
MAP1B	4131	broad.mit.edu	37	5	71495579	71495579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:71495579C>T	uc003kbw.4	+	4	6638	c.6397C>T	c.(6397-6399)Cca>Tca	p.P2133S	MAP1B_uc010iyw.1_Missense_Mutation_p.P2150S|MAP1B_uc010iyx.1_Missense_Mutation_p.P2007S|MAP1B_uc010iyy.1_Missense_Mutation_p.P2007S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2133						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCACCGCCTCCAGGAGGAAA	0.562000														58			5		0	0	0.000602214	0	0
ADCY7	113	broad.mit.edu	37	16	50346815	50346815	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:50346815G>A	uc002egd.1	+	20	2887	c.2619G>A	c.(2617-2619)caG>caA	p.Q873Q		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	873					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGTACCATCAGTCCTATGACT	0.547000														73			8		0	0	0.000442599	0	0
ABCC8	6833	broad.mit.edu	37	11	17426146	17426146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17426146G>A	uc001mnc.3	-	27	3596	c.3470C>T	c.(3469-3471)tCc>tTc	p.S1157F		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1157	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTGACATAGGAGATGACGGC	0.617000														133			6		0	0	0.000157383	0	0
FLG	2312	broad.mit.edu	37	1	152287016	152287016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152287016C>T	uc001ezu.1	-	2	382	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	116					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTTCTTCCTGTTTATTA	0.378000									Ichthyosis					95			15		0	0	0.000219431	0	0
MARCH6	10299	broad.mit.edu	37	5	10405768	10405768	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:10405768C>T	uc003jet.1	+	15	1614	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	MARCH6_uc011cmu.1_Silent_p.L429L|MARCH6_uc003jeu.1_Silent_p.L175L|MARCH6_uc011cmv.1_Silent_p.L372L	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	477					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATAGGCATCTCCGAAGATTTA	0.338000														86			6		0	0	0.000274275	0	0
PCSK2	5126	broad.mit.edu	37	20	17410135	17410135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:17410135G>A	uc002wpm.3	+	6	1030	c.676G>A	c.(676-678)Gga>Aga	p.G226R	PCSK2_uc002wpl.3_Missense_Mutation_p.G207R|PCSK2_uc010zrm.2_Missense_Mutation_p.G191R	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	226	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAATATCTGTGGAGTTGGAGT	0.488000														67			17		0	0	0.00121646	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957900	74957900	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:74957900C>T	uc001dge.2	+	24	2671	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	FPGT-TNNI3K_uc001dgf.2_Silent_p.F767F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	767						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.F767F(1)									GAAGTCGTTTCGAATTGGAAT	0.453000														81			9		0	0	0.000673444	0	0
CDK11B	984	broad.mit.edu	37	1	1572086	1572086	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:1572086G>A	uc001agv.1	-	17	1952	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	CDK11B_uc009vkj.2_Silent_p.F282F|CDK11B_uc001ags.1_Silent_p.F483F|CDK11B_uc001agt.1_Silent_p.F408F|CDK11B_uc001aha.1_Silent_p.F589F|CDK11B_uc001agw.1_Silent_p.F573F|CDK11B_uc001agy.1_Silent_p.F616F|CDK11B_uc001agx.1_Silent_p.F607F|CDK11B_uc001agz.1_Silent_p.F369F	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	638	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						ACTTCCCGGGGAACAGAGGCT	0.572000														40			11		0	0	0.00185496	0	0
C11orf41	25758	broad.mit.edu	37	11	33565386	33565386	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:33565386C>T	uc021qfs.1	+	0	1510	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	C11orf41_uc001mun.1_Silent_p.F462F	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	462						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CTCAGGATTTCAAAGATACTG	0.458000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		163			10		0	0	0.000673444	0	0
LILRA1	11024	broad.mit.edu	37	19	55106777	55106777	+	Missense_Mutation	SNP	C	T	T	rs141328341		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55106777C>T	uc002qgh.1	+	4	753	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R191C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567000														91			21		0	0	0.00188189	0	0
UNC13D	201294	broad.mit.edu	37	17	73835952	73835952	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:73835952C>T	uc002jpp.3	-	11	1403	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	UNC13D_uc010wsk.1_Silent_p.Q341Q|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Silent_p.Q138Q	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	341	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATAGGTCCTTCTGTGTGGCGT	0.667000									Familial Hemophagocytic Lymphohistiocytosis					59			5		0	0	0.00116845	0	0
MIER2	54531	broad.mit.edu	37	19	334403	334403	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:334403G>A	uc002lok.1	-	2	249	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTACCTGGGAGATGAAGT	0.572000														77			7		0	0	0.000157383	0	0
C19orf18	147685	broad.mit.edu	37	19	58485727	58485728	+	Missense_Mutation	DNP	GG	AA	AA	rs150585544		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58485727_58485728GG>AA	uc002qqv.3	-	0	175_176	c.73_74CC>TT	c.(73-75)ccg>TTg	p.P25L		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATCTGCATACGGCAAGCATAAA	0.401000														46			12		0	0	6.4e-05	0	0
MC3R	4159	broad.mit.edu	37	20	54823928	54823928	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:54823928T>C	uc002xxb.2	+	0	141	c.29T>C	c.(28-30)gTt>gCt	p.V10A		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	47					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGCCCTCTGTTCAGCCAACA	0.587000														106			20		0	0	0.00188189	0	0
STX2	2054	broad.mit.edu	37	12	131293178	131293179	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:131293178_131293179GG>TT	uc001uio.3	-	4	518_519	c.351_352CC>AA	c.(349-354)acccag>acAAag	p.Q118K	STX2_uc001uip.3_Missense_Mutation_p.Q118K|STX2_uc010tbj.2_Missense_Mutation_p.Q118K	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	118					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TAGCAAACCTGGGTTCTTCGTA	0.381000														343			11		0	0	6.4e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54307482	54307482	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54307482C>T	uc021smr.1	+	0	2382	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	UNC13C_uc021sms.1_Silent_p.F794F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	794					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTTCAGCTTCCCAAAATTTG	0.438000														12			8		0	0	0.000274275	0	0
PSG5	5673	broad.mit.edu	37	19	43680172	43680172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43680172G>A	uc002ovu.3	-	2	690	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.L187F	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	187	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.468000														106			19		0	0	0.000586117	0	0
NAT10	55226	broad.mit.edu	37	11	34158287	34158288	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:34158287_34158288GG>TT	uc001mvk.3	+	19	2371_2372	c.2127_2128GG>TT	c.(2125-2130)ctgggt>ctTTgt	p.G710C	NAT10_uc010ren.2_Missense_Mutation_p.G638C	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	710	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGATTACCTGGGTGTTTCCTA	0.550000														87			6		0	0	6.4e-05	0	0
SYT7	9066	broad.mit.edu	37	11	61290547	61290547	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61290547C>T	uc001nrv.3	-	8	1159	c.1107_splice	c.e8+1	p.K369_splice	SYT7_uc009ynr.3_Splice_Site_p.K444_splice	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCGCCCCTACCTTGCCGATGA	0.597000														92			10		0	0	0.000978159	0	0
WT1	7490	broad.mit.edu	37	11	32439123	32439123	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:32439123C>T	uc001mtn.2	-	4	1140	c.950_splice	c.e4+1	p.G317_splice	WT1_uc001mtl.2_Splice_Site_p.G105_splice|WT1_uc001mtm.2_Splice_Site_p.G105_splice|WT1_uc001mto.2_Splice_Site_p.G317_splice|WT1_uc001mtq.2_Splice_Site_p.G317_splice|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	249					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAAACCTTACCCCTTTAAGGT	0.368000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					41			7		0	0	0.000157383	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990081	128990081	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:128990081T>C	uc003kvb.1	+	13	2241	c.2241T>C	c.(2239-2241)tcT>tcC	p.S747S	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	747	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGGAACTTCTTGTGGCTATC	0.378000														57			12		0	0	0.000219431	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760670	186760670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:186760670C>T	uc003frb.3	+	3	812	c.179C>T	c.(178-180)tCc>tTc	p.S60F	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Missense_Mutation_p.S60F	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	60					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGTCTGATTCCCAGTCTGTA	0.527000														41			11		0	0	0.000978159	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108235	95108235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:95108235G>A	uc001ydt.3	+	1	840	c.752G>A	c.(751-753)aGa>aAa	p.R251K						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						ATGCTCCTCAGAGGTAAGAGC	0.567000														53			6		0	0	0.000157383	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519904	69519904	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69519904C>T	uc021xow.1	-	4	1322	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	388					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCATAGGGATCCCATGGTAGA	0.443000														96			6		0	0	8.12818e-05	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	A	A	rs150474449		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:89911136G>A	uc001pdf.4	+	15	1818	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.R537Q|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	570	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTCAATTACGAGGAGCACTG	0.348000														62			6		0	0	0.000157383	0	0
CLDN17	26285	broad.mit.edu	37	21	31538577	31538577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:31538577C>T	uc011acv.2	-	0	395	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	120					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCCTGAAGTTCCCAGAAGGTA	0.517000														59			12		0	0	0.00136819	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329895	64329895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64329895C>T	uc001oai.3	+	3	1183	c.809C>T	c.(808-810)tCc>tTc	p.S270F	SLC22A11_uc001oah.1_Silent_p.L235L|SLC22A11_uc009ypq.3_Missense_Mutation_p.S270F|SLC22A11_uc001oak.1_Missense_Mutation_p.S99F	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	270					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTTGCCATCTCCCTGATATCC	0.617000														87			9		0	0	0.000673444	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113460	123113460	+	Silent	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:123113460T>G	uc003ieh.3	+	8	1023	c.978T>G	c.(976-978)ccT>ccG	p.P326P	KIAA1109_uc003iei.1_Silent_p.P80P	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	326					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGACTTGCCTCCATGTTGGG	0.373000														70			13		0	0	0.00185496	0	0
LARS	51520	broad.mit.edu	37	5	145524069	145524069	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145524069T>G	uc003lnx.1	-	16	1859	c.1621A>C	c.(1621-1623)Aaa>Caa	p.K541Q	LARS_uc011dbq.1_Missense_Mutation_p.K495Q|LARS_uc011dbr.1_Missense_Mutation_p.K487Q|LARS_uc011dbs.1_Missense_Mutation_p.K514Q	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	541					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GATGTCTGTTTCTTCCAATTC	0.373000														92			14		0	0	0.000566183	0	0
NBEAL1	65065	broad.mit.edu	37	2	203964360	203964361	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:203964360_203964361GG>TT	uc002uzt.3	+	10	1440_1441	c.1107_1108GG>TT	c.(1105-1110)caggga>caTTga	p.369_370QG>H*		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	369							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGTTTCAGGGACAATTGGA	0.391000														416			15		0	0	6.4e-05	0	0
INHBA	3624	broad.mit.edu	37	7	41729952	41729952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:41729952C>T	uc003thq.3	-	1	812	c.577G>A	c.(577-579)Gag>Aag	p.E193K	INHBA_uc003thr.3_Missense_Mutation_p.E193K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	193					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCACTTCCTCGGCCTCTTCC	0.572000										TSP Lung(11;0.080)				42			13		0	0	0.000219431	0	0
KIAA0355	9710	broad.mit.edu	37	19	34810938	34810938	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:34810938A>C	uc002nvd.4	+	2	1481	c.622A>C	c.(622-624)Agc>Cgc	p.S208R		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	208										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AAAAAAGAACAGCGGCAGTGG	0.572000														71			7		0	0	8.12818e-05	0	0
ARAP1	116985	broad.mit.edu	37	11	72423291	72423292	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:72423291_72423292GG>AA	uc001osu.3	-	6	1160_1161	c.971_972CC>TT	c.(970-972)ccc>cTT	p.P324L	ARAP1_uc001osv.3_Missense_Mutation_p.P324L|ARAP1_uc001osr.3_Missense_Mutation_p.P84L|ARAP1_uc001oss.3_Missense_Mutation_p.P79L|ARAP1_uc009yth.3_Missense_Mutation_p.P79L|ARAP1_uc010rre.2_Missense_Mutation_p.P79L	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	324					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTGGTGTGACGGGGGTGGAGCC	0.663000														222			16		0	0	6.4e-05	0	0
OVOS2	0	broad.mit.edu	37	12	31300962	31300963	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:31300962_31300963CG>AT	uc010sjy.1	-	10	1297_1298	c.1297_1298CG>AT	c.(1297-1299)cga>ATa	p.R433I						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGTTCGTTCGGGAGTAAAAG	0.455000														304			7		0	0	6.4e-05	0	0
PGC	5225	broad.mit.edu	37	6	41704631	41704631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:41704631C>T	uc003ora.2	-	8	1193	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	376					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTGCCCAAGTCGTAGACGGAA	0.617000														84			6		0	0	8.12818e-05	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506453	107506453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:107506453G>A	uc010rvs.2	+	5	786	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ELMOD1_uc001pjm.3_Missense_Mutation_p.D128N|ELMOD1_uc010rvt.2_Missense_Mutation_p.D122N	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	128					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGAGGCCTATGATTCTGATAA	0.463000														45			9		0	0	0.000274275	0	0
CFHR5	81494	broad.mit.edu	37	1	196977706	196977706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:196977706G>A	uc001gts.4	+	9	1731	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	535	Sushi 9.				complement activation, alternative pathway	extracellular region		p.D535N(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAAACAGGGGATGCTGTTGA	0.363000														45			18		0	0	0.000958276	0	0
EPHA4	2043	broad.mit.edu	37	2	222347164	222347164	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:222347164T>A	uc002vmq.3	-	4	1268	c.1226A>T	c.(1225-1227)tAc>tTc	p.Y409F	EPHA4_uc002vmr.2_Missense_Mutation_p.Y409F|EPHA4_uc010zlm.1_Missense_Mutation_p.Y350F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	409	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCAAAGGTGTAATTGGTATG	0.493000														188			34		0	0	0.00170553	0	0
OR9G4	283189	broad.mit.edu	37	11	56510996	56510996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56510996C>T	uc010rjo.2	-	0	292	c.292G>A	c.(292-294)Gcc>Acc	p.A98T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACACAACTGGCCAGGATTTTG	0.453000														83			11		0	0	0.000308642	0	0
MME	4311	broad.mit.edu	37	3	154884716	154884716	+	Silent	SNP	C	T	T	rs147740086		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:154884716C>T	uc010hvr.1	+	17	1897	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	MME_uc003fab.1_Silent_p.P562P|MME_uc003fac.1_Silent_p.P562P|MME_uc003fad.1_Silent_p.P562P|MME_uc003fae.1_Silent_p.P562P	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	562					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTCTGCAGCCCCCCTTCTTTA	0.443000														49			8		0	0	0.000274275	0	0
ADAM23	8745	broad.mit.edu	37	2	207426961	207426961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207426961C>T	uc002vbq.3	+	12	1512	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	430	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAAGTATTATCGCAGAGCCTG	0.423000														214			22		0	0	0.000375601	0	0
CRB1	23418	broad.mit.edu	37	1	197390624	197390624	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:197390624C>T	uc001gtz.3	+	5	1875	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L	CRB1_uc010poz.2_Silent_p.L487L|CRB1_uc009wza.3_Silent_p.L444L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.L556L|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.L37L|CRB1_uc001gub.1_Silent_p.L205L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	556	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAAGGTGCTTCTGTTCATTTC	0.453000														88			10		0	0	0.000219431	0	0
STK31	56164	broad.mit.edu	37	7	23826541	23826541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:23826541G>A	uc003sws.4	+	19	2552	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	STK31_uc003swt.4_Missense_Mutation_p.E806K|STK31_uc011jze.2_Missense_Mutation_p.E829K|STK31_uc010kuq.3_Missense_Mutation_p.E806K|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	829	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTAAATTCAGAAGTAAGTAA	0.348000														81			22		0	0	0.000295444	0	0
MYO1F	4542	broad.mit.edu	37	19	8609284	8609284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8609284C>T	uc002mkg.3	-	13	1559	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	474	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGGTCTGCTCCCCCGCCCGT	0.672000														19			7		0	0	8.12818e-05	0	0
PAK1	5058	broad.mit.edu	37	11	77047244	77047244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:77047244C>T	uc001oyh.4	-	12	1833	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PAK1_uc010rso.2_Missense_Mutation_p.E336K|PAK1_uc001oyg.4_Missense_Mutation_p.E434K|PAK1_uc001oyi.1_Missense_Mutation_p.E434K|PAK1_uc010rsn.2_Missense_Mutation_p.E147K	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	434	Protein kinase.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GTCACAACCTCTGGTGCCATC	0.502000														46			6		0	0	8.12818e-05	0	0
HCFC1	3054	broad.mit.edu	37	X	153222905	153222905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:153222905G>A	uc004fjp.3	-	12	2741	c.2213C>T	c.(2212-2214)aCc>aTc	p.T738I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	738					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCGTGGTAGTGATGAT	0.627000														24			15		0	0	0.000422831	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700470	41700470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:41700470G>A	uc002opw.3	+	1	254	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	67					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTACGGACCGGTGTTCACCAT	0.617000														25			7		0	0	0.000673444	0	0
RHAG	6005	broad.mit.edu	37	6	49586938	49586938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:49586938C>T	uc003ozk.4	-	1	357	c.295G>A	c.(295-297)Gga>Aga	p.G99R	RHAG_uc010jzl.3_Missense_Mutation_p.G99R|RHAG_uc010jzm.3_Missense_Mutation_p.G99R	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	99					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCAGGATTCCCTGTACAATA	0.453000														46			7		0	0	8.12818e-05	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040889	147040889	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:147040889C>T	uc010jgo.1	-	1	397	c.249G>A	c.(247-249)aaG>aaA	p.K83K	JAKMIP2_uc003loq.1_Silent_p.K83K|JAKMIP2_uc011dbx.1_Silent_p.K41K|JAKMIP2_uc003lor.1_Silent_p.K83K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	83						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCAGCTCCTTCATCTTCT	0.532000														126			10		0	0	0.000673444	0	0
OR2A7	401427	broad.mit.edu	37	7	143956632	143956632	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143956632G>A	uc011kuc.2	-	0	90	c.90C>T	c.(88-90)ttC>ttT	p.F30F	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGAACAGGGAGAAGAGCCCAA	0.537000														79			6		0	0	0.000442599	0	0
MCPH1	79648	broad.mit.edu	37	8	6479056	6479056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:6479056C>T	uc003wqi.3	+	12	2372	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	766	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTTTGTCTCGCCTGCCAGCAG	0.657000														18			5		0	0	0.000602214	0	0
LRRC32	2615	broad.mit.edu	37	11	76372536	76372536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:76372536G>A	uc001oxq.4	-	2	344	c.101C>T	c.(100-102)tCg>tTg	p.S34L	LRRC32_uc001oxr.4_Missense_Mutation_p.S34L|LRRC32_uc010rsf.2_Missense_Mutation_p.S34L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	34						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AACCTGGCACGAGACCTTCTT	0.602000														10			4		0	0	0.00024832	0	0
INADL	10207	broad.mit.edu	37	1	62393401	62393401	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62393401G>A	uc001dab.3	+	27	3685	c.3571_splice	c.e27-1	p.R1191_splice	INADL_uc009waf.1_Splice_Site_p.R1191_splice|INADL_uc001daa.2_Splice_Site_p.R1191_splice|INADL_uc001dad.3_Splice_Site_p.R888_splice|INADL_uc001dac.3_Splice_Site	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1191					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGCATCTTCAGAGGCAAGGAA	0.393000														50			9		0	0	0.000274275	0	0
INPP5D	3635	broad.mit.edu	37	2	234091090	234091090	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:234091090C>T	uc010zmo.2	+	17	2172	c.2019C>T	c.(2017-2019)agC>agT	p.S673S	INPP5D_uc010zmp.2_Silent_p.S672S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	702					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTGACCACAGCCCTGTCTTTG	0.522000														54			10		0	0	0.00136819	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277193	131277193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:131277193C>T	uc003qch.2	-	1	615	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	EPB41L2_uc010kfl.2_Missense_Mutation_p.E145K|EPB41L2_uc003qcg.1_Missense_Mutation_p.E145K|EPB41L2_uc003qci.3_Missense_Mutation_p.E145K|EPB41L2_uc011eby.2_Missense_Mutation_p.E145K|EPB41L2_uc010kfk.2_Missense_Mutation_p.E145K	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	145					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGTTTTTCTTCCTTGACTTCA	0.423000														230			51		0	0	0.000781405	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576384	33576384	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:33576384G>A	uc003jia.1	-	18	3910	c.3747C>T	c.(3745-3747)ctC>ctT	p.L1249L	ADAMTS12_uc010iuq.1_Silent_p.L1164L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1249	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1249L(2)|p.L1248L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCCAGAGGGAGCAGAGTGT	0.517000										HNSCC(64;0.19)				74			17		0	0	0.000422831	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107318	13107318	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:13107318C>T	uc002wod.1	+	8	1522	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	411					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAGAGCAAATCATCAGATCAC	0.483000														117			22		0	0	0.000295444	0	0
abParts	0	broad.mit.edu	37	14	107283016	107283016	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:107283016C>T	uc021ser.1	-	0		c.70G>A								Parts of antibodies, mostly variable regions.																		TAACCAGAAGCCTTGCAGGAG	0.572000														57			5		0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9074140	9074140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9074140G>A	uc002mkp.3	-	2	13510	c.13306C>T	c.(13306-13308)Ccc>Tcc	p.P4436S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4438	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATCCTTGGGACCTTTGCTT	0.493000														68			9		0	0	0.000274275	0	0
OIT3	170392	broad.mit.edu	37	10	74684190	74684190	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:74684190G>A	uc001jte.1	+	6	1373	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	385	ZP.					nuclear envelope	calcium ion binding	p.G385G(2)|p.H384Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAAATCATGGGATCTTCCCAT	0.512000														72			6		0	0	0.00116845	0	0
BST2	684	broad.mit.edu	37	19	17516154	17516154	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:17516154G>A	uc002ngl.3	-	0	231	c.231C>T	c.(229-231)gcC>gcT	p.A77A	AK311380_uc010eat.1_5'Flank|AK311380_uc002ngm.1_5'Flank	NM_004335	NP_004326	Q10589	BST2_HUMAN	Homo sapiens bone marrow stromal cell antigen 2 (BST2), mRNA.	77					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|anchored to membrane|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGCCCTTCTGGGCCTCGGTCA	0.607000														34			4		0	0	0.000602214	0	0
NRG3	10718	broad.mit.edu	37	10	84118519	84118519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:84118519G>A	uc021pvc.1	+	1	875	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	NRG3_uc010qlz.1_Missense_Mutation_p.R283Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R283Q|NRG3_uc001kcp.2_Missense_Mutation_p.R62Q|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Missense_Mutation_p.R62Q|NRG3_uc021pve.1_Missense_Mutation_p.R87Q|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Missense_Mutation_p.R87Q|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.R113Q|NRG3_uc021pvk.1_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	283	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCACAGAGCGATCCGAGCAC	0.517000														75			10		0	0	0.000673444	0	0
KIFC3	3801	broad.mit.edu	37	16	57798150	57798150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57798150C>T	uc002emq.3	-	11	1719	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	KIFC3_uc010vhw.2_Missense_Mutation_p.E406K|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.E369K|KIFC3_uc010vhx.2_Splice_Site_p.E366_splice|KIFC3_uc010cdf.3_Missense_Mutation_p.E369K|KIFC3_uc002emo.4_Missense_Mutation_p.E369K|KIFC3_uc010vhy.2_Missense_Mutation_p.E450K|KIFC3_uc002emp.3_Missense_Mutation_p.E508K|KIFC3_uc010vhz.2_Missense_Mutation_p.E530K|KIFC3_uc002emr.1_Missense_Mutation_p.E285K	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	508	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCCTGCACCTCCTGGAACACC	0.642000														14			5		0	0	0.000602214	0	0
MLEC	9761	broad.mit.edu	37	12	121132064	121132064	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:121132064C>A	uc001tyy.1	+	1	557	c.406C>A	c.(406-408)Cag>Aag	p.Q136K		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	136					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.S135Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGCACAGTCCCAGCAAAAGGT	0.522000														113			11		0.000978159	0.00503204	0.000978159	1	0
UBQLNL	143630	broad.mit.edu	37	11	5536370	5536370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5536370C>T	uc001maz.4	-	0	1587	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	434										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGGTTGTTCATAAGCAACT	0.512000														96			9		0	0	0.000978159	0	0
PADI4	23569	broad.mit.edu	37	1	17668439	17668439	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:17668439G>A	uc001baj.2	+	7	681	c.653_splice	c.e7-1	p.R218_splice	PADI4_uc009vpc.2_Splice_Site_p.R218_splice	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	218					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTCTCCTAGGGGGCAAACTGT	0.577000														9			3		0	0	6.4e-05	0	0
KIAA1257	57501	broad.mit.edu	37	3	128690150	128690150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:128690150G>A	uc003elj.4	-	7	1344	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	KIAA1257_uc003elg.1_Missense_Mutation_p.A383V|AK125726_uc003elh.1_5'UTR|KIAA1257_uc003eli.4_Missense_Mutation_p.A271V	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	383										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CGGCATGACGGCCAGCTGGAT	0.592000											OREG0015784	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			4		0	0	0.000602214	0	0
NEXN	91624	broad.mit.edu	37	1	78401623	78401623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:78401623G>A	uc001dic.4	+	10	1664	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	NEXN_uc001dia.3_Missense_Mutation_p.G442E|NEXN_uc009wcb.1_Missense_Mutation_p.G378E|NEXN_uc001dib.4_Missense_Mutation_p.G392E|NEXN_uc001did.1_Missense_Mutation_p.G366E|NEXN_uc001dif.1_Missense_Mutation_p.G348E|NEXN_uc001dig.4_Missense_Mutation_p.G97E	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	456	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAAAATTGGACAGTTGTCT	0.333000														106			9		0	0	0.000274275	0	0
CILP2	148113	broad.mit.edu	37	19	19654536	19654536	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:19654536C>T	uc002nmw.4	+	7	1285	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	CILP2_uc002nmv.4_Silent_p.I394I	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	394						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGTACCTGATCAAGCTCCCTG	0.667000														131			24		0	0	0.00106085	0	0
COL17A1	1308	broad.mit.edu	37	10	105815633	105815633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:105815633C>T	uc001kxr.3	-	17	1763	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	COL17A1_uc010qqv.1_Missense_Mutation_p.G516R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	532	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGTCTGCTCCCGCCGCGGGT	0.552000														55			10		0	0	0.000673444	0	0
FAM161A	84140	broad.mit.edu	37	2	62067638	62067638	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:62067638G>A	uc002sbm.4	-	2	603	c.501C>T	c.(499-501)tcC>tcT	p.S167S	FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Silent_p.S167S|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.S58S	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	167				S -> F (in Ref. 3; BAB14544).	response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATACAAGGAGGAAGACTGGC	0.398000														88			10		0	0	0.000673444	0	0
COL9A1	1297	broad.mit.edu	37	6	71011744	71011744	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:71011744G>A	uc003pfg.4	-	1	207	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	16					axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGGTTCCAGGAAACTGCACA	0.448000														24			6		0	0	8.12818e-05	0	0
MYL1	4632	broad.mit.edu	37	2	211163245	211163245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:211163245G>A	uc002vec.3	-	2	332	c.203C>T	c.(202-204)tCc>tTc	p.S68F	MYL1_uc002veb.3_Missense_Mutation_p.S24F	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	68	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGTGATCTTGGAATCACCTGT	0.448000														42			12		0	0	0.00185496	0	0
TM9SF4	9777	broad.mit.edu	37	20	30753238	30753238	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:30753238G>A	uc002wxj.2	+	17	2155	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	TM9SF4_uc010zts.1_Silent_p.K547K|TM9SF4_uc002wxk.2_Silent_p.K623K	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	640						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGCTGTGAAGATAGACTGAT	0.542000														43			10		0	0	0.000673444	0	0
FUT8	2530	broad.mit.edu	37	14	66028393	66028393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:66028393C>T	uc001xin.3	+	2	1839	c.112C>T	c.(112-114)Cac>Tac	p.H38Y	FUT8_uc001xio.3_Missense_Mutation_p.H38Y|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.H38Y|FUT8_uc001xiq.3_Intron	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	38					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCATCCTGATCACTCTAGCCG	0.473000														44			6		0	0	8.12818e-05	0	0
OR12D3	81797	broad.mit.edu	37	6	29342165	29342165	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29342165C>T	uc003nme.3	-	0	904	c.900G>A	c.(898-900)ctG>ctA	p.L300L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGATTTTCTTCAGAGCCATCA	0.423000														67			17		0	0	0.000958276	0	0
CSF1	1435	broad.mit.edu	37	1	110464543	110464543	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:110464543G>A	uc001dyu.2	+	4	884	c.471G>A	c.(469-471)aaG>aaA	p.K157K	CSF1_uc001dyt.2_Silent_p.K157K|CSF1_uc021ori.1_Silent_p.K157K|CSF1_uc001dyw.4_Silent_p.K157K|CSF1_uc021orj.1_Silent_p.K116K	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	157					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATGAAACAAAGAATCTCCTTG	0.483000														67			12		0	0	0.000978159	0	0
GALNTL1	57452	broad.mit.edu	37	14	69814701	69814701	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:69814701C>T	uc001xlb.2	+	13	1848	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	GALNTL1_uc001xla.2_Silent_p.N507N|GALNTL1_uc010aqu.2_Silent_p.N507N	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	507	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		AGATGTGCAACCCTAGAGAAG	0.622000														28			5		0	0	0.000602214	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268607	21268607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:21268607G>A	uc001bec.3	-	8	1128	c.872C>T	c.(871-873)cCa>cTa	p.P291L	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.P290L|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.P290L|EIF4G3_uc001bee.3_Missense_Mutation_p.P297L|EIF4G3_uc001beg.3_Missense_Mutation_p.P290L|EIF4G3_uc010odk.2_Missense_Mutation_p.P291L|EIF4G3_uc001beh.3_Missense_Mutation_p.P302L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	291					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTGAATATTGGTTGGCTACT	0.473000														91			8		0	0	0.000274275	0	0
CAPN13	92291	broad.mit.edu	37	2	30976012	30976012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:30976012C>T	uc021vfn.1	-	8	1026	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CAPN13_uc021vfm.1_Missense_Mutation_p.E332K|CAPN13_uc002rnp.1_Missense_Mutation_p.E332K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	332	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTGGAATTTCGCTACATATA	0.423000														137			14		0	0	0.000308642	0	0
OR13C4	138804	broad.mit.edu	37	9	107289287	107289287	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:107289287G>A	uc011lvn.2	-	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGATATCCAGGAAAGAGAGGT	0.438000														39			8		0	0	0.000157383	0	0
LRIT2	340745	broad.mit.edu	37	10	85981738	85981738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:85981738C>T	uc010qmc.2	-	3	1629	c.1621G>A	c.(1621-1623)Ggt>Agt	p.G541S	LRIT2_uc001kcy.3_Missense_Mutation_p.G531S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	531						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCCCTTCACCGTCATCACAG	0.587000														91			7		0	0	0.000673444	0	0
DRD2	1813	broad.mit.edu	37	11	113285125	113285125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:113285125C>T	uc001pnz.3	-	4	1103	c.782G>A	c.(781-783)gGg>gAg	p.G261E	DRD2_uc010rwv.2_Missense_Mutation_p.G260E|DRD2_uc001poa.4_Missense_Mutation_p.G261E|DRD2_uc001pob.4_Intron|DRD2_uc009yyr.1_Missense_Mutation_p.G261E	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	261	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGGGAAACTCCCATTAGACTT	0.567000														120			18		0	0	0.00152264	0	0
DSG1	1828	broad.mit.edu	37	18	28909865	28909865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:28909865G>A	uc002kwp.3	+	4	595	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	128	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATCTACTGCCGAGCTCTGAAC	0.398000														37			6		0	0	0.000157383	0	0
ZNF333	84449	broad.mit.edu	37	19	14829637	14829637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14829637C>T	uc002mzn.3	+	11	1632	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	ZNF333_uc002mzk.4_Missense_Mutation_p.H391Y	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TCTGCGAACCCATACCAGAGA	0.517000														46			7		0	0	0.000673444	0	0
OR4D2	124538	broad.mit.edu	37	17	56247179	56247179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:56247179C>T	uc010wnp.2	+	0	163	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGATTCCCAGCTCCACACACC	0.483000														94			23		0	0	0.00106085	0	0
OR5A1	219982	broad.mit.edu	37	11	59210711	59210711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59210711C>T	uc001nnx.1	+	0	70	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CACAGACCATCCAGAACTCCA	0.532000														71			13		0	0	0.000219431	0	0
NUP43	348995	broad.mit.edu	37	6	150057737	150057737	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:150057737G>A	uc003qmz.3	-	5	717	c.660C>T	c.(658-660)ctC>ctT	p.L220L	NUP43_uc003qmx.4_Non-coding_Transcript|NUP43_uc011eef.1_Intron	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	Homo sapiens nucleoporin 43kDa (NUP43), transcript variant 1, mRNA.	220					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAACACAGTGGAGTGGCACTC	0.408000														58			15		0	0	0.000422831	0	0
NLRP13	126204	broad.mit.edu	37	19	56435345	56435345	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56435345C>T	uc010ygg.2	-	4	483	c.458_splice	c.e4-1	p.G153_splice		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	153							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTGTACATTCCCTGAAATAAA	0.418000														63			10		0	0	0.000219431	0	0
ACSL5	51703	broad.mit.edu	37	10	114176675	114176675	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:114176675G>A	uc001kzu.3	+	12	1393	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	ACSL5_uc001kzs.3_Silent_p.K371K|ACSL5_uc001kzt.3_Silent_p.K371K|ACSL5_uc009xxz.3_Silent_p.K371K|ACSL5_uc010qrj.2_Silent_p.K153K	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	371					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCTTGAAGAAGTTCTTGT	0.413000														82			7		0	0	0.000157383	0	0
KCNK4	50801	broad.mit.edu	37	11	64065031	64065031	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64065031C>T	uc001nzj.1	+	4	890	c.567C>T	c.(565-567)ttC>ttT	p.F189F	KCNK4_uc001nzk.1_Intron|KCNK4_uc010rnk.1_Silent_p.F17F|KCNK4_uc001nzl.1_Intron|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.F189F|KCNK4_uc001nzo.2_Silent_p.F189F|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	189						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCCCACGTTCGTGTTCTGCT	0.577000														61			10		0	0	0.000978159	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376069	8376069	+	Silent	SNP	G	A	A	rs141678042		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8376069G>A	uc001qui.2	-	5	967	c.408C>T	c.(406-408)tcC>tcT	p.S136S	FAM90A1_uc001quh.2_Silent_p.S136S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	136							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AAGATTCCGTGGATCCTTTTT	0.517000														49			16		0	0	0.000958276	0	0
SNX20	124460	broad.mit.edu	37	16	50707426	50707426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:50707426C>T	uc002egk.2	-	3	1015	c.842G>A	c.(841-843)gGc>gAc	p.G281D	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	281					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GAAGTCCTTGCCCAGCGCGTA	0.687000														23			7		0	0	8.12818e-05	0	0
COL20A1	57642	broad.mit.edu	37	20	61956823	61956823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:61956823G>A	uc011aau.2	+	27	3425	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N	COL20A1_uc011aav.2_Missense_Mutation_p.D930N	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1109	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGAGAAGGGAGACCATGGGCT	0.667000														48			9		0	0	0.000219431	0	0
AP1B1	162	broad.mit.edu	37	22	29727502	29727502	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:29727502G>A	uc003afj.3	-	18	2647	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	AP1B1_uc003afl.3_Silent_p.I793I|AP1B1_uc003afi.3_Silent_p.I813I|AP1B1_uc003afh.3_Silent_p.I17I|AP1B1_uc011ako.2_Silent_p.I373I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	820					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGAAGACATCGATGTTGTTCT	0.577000														108			8		0	0	0.000673444	0	0
THSD7B	80731	broad.mit.edu	37	2	138378199	138378199	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:138378199G>A	uc002tva.1	+	18	3612	c.3612G>A	c.(3610-3612)caG>caA	p.Q1204Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P1203T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAAGCCCCAGAGAATGAGCA	0.463000														72			19		0	0	0.000295444	0	0
RSG1	79363	broad.mit.edu	37	1	16559500	16559500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16559500G>A	uc001ayd.3	-	2	700	c.278C>T	c.(277-279)aCc>aTc	p.T93I		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	93	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AAATACCACGGTGGTCTGGAT	0.547000														91			14		0	0	0.000566183	0	0
ODZ3	55714	broad.mit.edu	37	4	183713818	183713818	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:183713818C>G	uc003ivd.1	+	24	6068	c.5993C>G	c.(5992-5994)cCc>cGc	p.P1998R		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1998					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAAATTGGTCCCCTGATTGAC	0.423000														288			55		0	0	0.000781405	0	0
BTNL8	79908	broad.mit.edu	37	5	180377043	180377043	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:180377043G>A	uc003mmp.3	+	7	1236	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Q209Q|BTNL8_uc010jlm.3_Silent_p.Q218Q|BTNL8_uc011dhh.2_Silent_p.Q150Q	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	334	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTTCTCAGAGTTTCCAAG	0.512000														29			21		0	0	0.00047179	0	0
TRIM36	55521	broad.mit.edu	37	5	114482989	114482989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:114482989C>T	uc003kqs.3	-	2	910	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	TRIM36_uc011cwc.2_Missense_Mutation_p.R122Q|TRIM36_uc003kqt.3_5'UTR	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	134						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGTGAAGTTTCGAAACAGACC	0.473000														124			16		0	0	0.000308642	0	0
PRR16	51334	broad.mit.edu	37	5	120022361	120022361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:120022361C>T	uc003ksq.3	+	1	1035	c.872C>T	c.(871-873)cCa>cTa	p.P291L	PRR16_uc003ksp.3_Missense_Mutation_p.P268L|PRR16_uc003ksr.3_Missense_Mutation_p.P221L	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	291	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCACCAAAACCACAGAAGACG	0.408000														45			9		0	0	0.000673444	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	103988	103988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrGL000209.1:103988C>T	uc021vdb.1	+	3	406	c.395C>T	c.(394-396)tCa>tTa	p.S132L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.S132L	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	132					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCTTCTCTCTCAGCCCAGCCG	0.562000														21			5		0	0	0.000442599	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586977	15586977	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15586977G>A	uc002nbg.3	-	1	637	c.504C>T	c.(502-504)acC>acT	p.T168T	PGLYRP2_uc002nbf.4_Silent_p.T168T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	168					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGGGGAGGAGGTGGCTCTTA	0.532000														55			7		0	0	8.12818e-05	0	0
ZNF554	115196	broad.mit.edu	37	19	2833880	2833880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:2833880C>T	uc002lwm.2	+	4	845	c.647C>T	c.(646-648)gCt>gTt	p.A216V	ZNF554_uc002lwl.2_Missense_Mutation_p.A165V	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAGAAGGCTACTGCATGG	0.527000														69			5		0	0	0.000602214	0	0
DNAH3	55567	broad.mit.edu	37	16	20976520	20976520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20976520G>A	uc010vbe.2	-	52	8686	c.8686C>T	c.(8686-8688)Cgc>Tgc	p.R2896C	DNAH3_uc010vbd.2_Missense_Mutation_p.R331C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2896	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGGCCACGCGATCGTACACC	0.567000														70			12		0	0	0.00136819	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061632	12061632	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:12061632G>A	uc002dbv.3	+	2	701	c.483G>A	c.(481-483)acG>acA	p.T161T	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Silent_p.T112T	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	161					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CCACGAAAACGAATGACTATT	0.483000			T	IL2	intestinal T-cell lymphoma									71			17		0	0	0.000566183	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558264	53558264	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:53558264G>A	uc021onn.1	-	6	1161	c.993C>T	c.(991-993)atC>atT	p.I331I	SLC1A7_uc021onm.1_Silent_p.I259I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I331I|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	331						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGCCTGCAGGATGCCACGGA	0.642000														18			4		0	0	0.00024832	0	0
OXGR1	27199	broad.mit.edu	37	13	97639725	97639725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:97639725C>T	uc001vmx.1	-	3	533	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	OXGR1_uc010afr.1_Missense_Mutation_p.E97K|OXGR1_uc021rlr.1_Missense_Mutation_p.E97K	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	97						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ATCCAGTTTTCGCCACTGGCA	0.473000														33			7		0	0	0.000157383	0	0
YSK4	80122	broad.mit.edu	37	2	135743891	135743891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:135743891G>A	uc002tue.1	-	6	2582	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P738S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P579S|YSK4_uc002tui.4_Missense_Mutation_p.P868S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	851							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTTCTGAAGGGATAAATGGG	0.418000														101			12		0	0	0.00136819	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717196	142717196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:142717196C>T	uc022cfm.1	-	0	1729	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E577K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E577K|SLITRK4_uc004fby.3_Missense_Mutation_p.E577K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	577	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAGATTTCATTTTTGAGG	0.463000														39			6		0	0	8.12818e-05	0	0
CDH10	1008	broad.mit.edu	37	5	24488092	24488092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:24488092C>T	uc003jgr.2	-	11	2553	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E682G(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTTTTTTTCCTCAATGGCT	0.478000										HNSCC(23;0.051)				44			5		0	0	0.00116845	0	0
COL4A6	1288	broad.mit.edu	37	X	107413904	107413904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107413904G>A	uc004enw.4	-	34	3534	c.3431C>T	c.(3430-3432)cCa>cTa	p.P1144L	COL4A6_uc004env.4_Missense_Mutation_p.P1143L|COL4A6_uc011msn.2_Missense_Mutation_p.P1143L|COL4A6_uc010npk.3_Missense_Mutation_p.P1143L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1144	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGAAGAACCTGGAAGTCCTGG	0.507000									Alport syndrome with Diffuse Leiomyomatosis					57			31		0	0	0.000814825	0	0
E2F3	1871	broad.mit.edu	37	6	20402521	20402521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:20402521G>A	uc003nda.2	+	0	385	c.58G>A	c.(58-60)Gag>Aag	p.E20K	E2F3_uc003ncz.2_Missense_Mutation_p.E20K|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	20					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGGGGGTGGGGAGGGGGCGGC	0.652000														125			14		0	0	0.000958276	0	0
OR2J3	442186	broad.mit.edu	37	6	29080168	29080168	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29080168C>T	uc011dll.2	+	0	501	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTTCACCTTCTGGGTACCTC	0.488000														45			5		0	0	0.000602214	0	0
COL6A6	131873	broad.mit.edu	37	3	130345371	130345371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:130345371C>T	uc010htl.3	+	23	4952	c.4921C>T	c.(4921-4923)Cct>Tct	p.P1641S	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1641	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTTGGCTTTCCTGGTCCTCG	0.418000														88			17		0	0	0.00121646	0	0
DNAH5	1767	broad.mit.edu	37	5	13871751	13871751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13871751G>A	uc003jfd.2	-	22	3562	c.3520C>T	c.(3520-3522)Ctc>Ttc	p.L1174F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1174	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1174fs*8(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGAAATAGAGAATCTGGGAC	0.393000									Kartagener syndrome					36			5		0	0	0.000602214	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995160	7995160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:7995160C>T	uc001aot.3	-	6	718	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	153					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCCCTCTCCTTCGTCCCA	0.502000														40			17		0	0	0.000958276	0	0
ACAN	176	broad.mit.edu	37	15	89401743	89401743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89401743G>A	uc010upo.1	+	11	6301	c.5927G>A	c.(5926-5928)gGg>gAg	p.G1976E	ACAN_uc010upp.1_Missense_Mutation_p.G1976E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1976					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACATGTCTGGGGAGCATTCT	0.542000														44			12		0	0	0.000978159	0	0
RP1L1	94137	broad.mit.edu	37	8	10467464	10467464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:10467464C>T	uc003wtc.3	-	3	4373	c.4144G>A	c.(4144-4146)Gaa>Aaa	p.E1382K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1382					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTCCTCCTTCTGGCCCTTCT	0.522000														203			19		0	0	0.00152264	0	0
TNF	7124	broad.mit.edu	37	6	31544543	31544543	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31544543G>A	uc003nui.3	+	3	402	c.233_splice	c.e3-1	p.R78_splice	TNF_uc003nuj.3_Splice_Site	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	78					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CTCCTCTTCAGGATCATCTTC	0.478000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					125			36		0	0	0.00148497	0	0
WSB1	26118	broad.mit.edu	37	17	25631814	25631814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:25631814C>T	uc002gzd.1	+	3	803	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	WSB1_uc010vzy.1_Missense_Mutation_p.L163F|WSB1_uc010vzz.1_Missense_Mutation_p.L132F|WSB1_uc010crf.1_Missense_Mutation_p.L17F|WSB1_uc002gze.1_Missense_Mutation_p.L17F|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	163					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGGAAAACTCCTCCTTAACTT	0.358000														66			10		0	0	0.000978159	0	0
GJA8	2703	broad.mit.edu	37	1	147380201	147380201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:147380201C>T	uc021ovm.1	+	0	119	c.119C>T	c.(118-120)gCc>gTc	p.A40V	GJA8_uc001epu.2_Missense_Mutation_p.A40V	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	40					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CTTGGCACGGCCGCAGAGTTC	0.592000														35			8		0	0	0.000274275	0	0
DGKA	1606	broad.mit.edu	37	12	56346858	56346858	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:56346858G>A	uc001sij.3	+	21	2241	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	DGKA_uc001sik.3_Silent_p.L659L|DGKA_uc001sil.3_Silent_p.L659L|DGKA_uc001sim.3_Silent_p.L659L|DGKA_uc001sin.3_Silent_p.L659L|DGKA_uc009zof.3_Silent_p.L305L|DGKA_uc001sio.3_Silent_p.L401L	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	659					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGTTGGGCTGGAGGGTGCAA	0.502000														62			15		0	0	0.000422831	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349910	21349910	+	Missense_Mutation	SNP	G	A	A	rs11045853	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21349910G>A	uc001req.4	+	7	862	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	253					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.R253P(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTGATTCTCGATGGGTTGGA	0.363000														116			8		0	0	0.000442599	0	0
LRRK2	120892	broad.mit.edu	37	12	40668764	40668764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:40668764G>A	uc001rmg.4	+	15	2031	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	LRRK2_uc001rmh.1_Missense_Mutation_p.R259Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	637					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCTTATACCGATTTAAGGAT	0.363000														41			15		0	0	0.00121646	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274173	103274173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:103274173C>T	uc002tca.3	+	1	582	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	147						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TACCTCCTCCCACCCATCGTG	0.458000														166			30		0	0	0.000409698	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214166	140214167	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140214166_140214167GG>AA	uc003lhq.2	+	0	198_199	c.198_199GG>AA	c.(196-201)gcggtg>gcAAtg	p.V67M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.V67M	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	82	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCGGGCGGTGTGCAAATT	0.624000														115			17		0	0	6.4e-05	0	0
MKRN3	7681	broad.mit.edu	37	15	23812123	23812123	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:23812123G>A	uc001ywh.4	+	0	1670	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.K398K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	398						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGAGCAACAAGGCCTGCAGGT	0.512000														92			13		0	0	0.000308642	0	0
DCLK1	9201	broad.mit.edu	37	13	36385035	36385035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:36385035C>T	uc001uvf.3	-	11	1908	c.1625G>A	c.(1624-1626)gGc>gAc	p.G542D	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.G235D|DCLK1_uc010teh.2_Missense_Mutation_p.G235D|DCLK1_uc010abk.3_Missense_Mutation_p.G62D	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	542	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTACAGGGGGCCGTCTACAAT	0.463000														101			10		0	0	0.000978159	0	0
OR2A12	346525	broad.mit.edu	37	7	143792644	143792644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143792644G>A	uc011kty.2	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W148C(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CAACTTGCTGGATATTTAGCT	0.443000														132			18		0	0	0.00074312	0	0
SCN11A	11280	broad.mit.edu	37	3	38936098	38936098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38936098C>T	uc021wvy.1	-	14	2960	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	SCN11A_uc010hhn.1_Missense_Mutation_p.E37K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	921					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A920A(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTCCTCCTCCGCAAGTGGT	0.493000														102			14		0	0	0.00185496	0	0
DES	1674	broad.mit.edu	37	2	220285063	220285063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220285063G>A	uc002vll.3	+	2	816	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	244	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAAGTGCATGAAGAGGTATA	0.567000														26			5		0	0	0.000157383	0	0
DENND2C	163259	broad.mit.edu	37	1	115142859	115142859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:115142859C>T	uc001efd.1	-	14	2773	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	DENND2C_uc001eez.3_Intron|DENND2C_uc001efc.1_Missense_Mutation_p.E634K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	691	DENN.							p.S691Y(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCTACGCTCCAAAAGGAGA	0.403000														23			5		0	0	0.00116845	0	0
ANKRD5	63926	broad.mit.edu	37	20	10025082	10025082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:10025082G>A	uc002wno.3	+	4	980	c.587G>A	c.(586-588)gGg>gAg	p.G196E	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G196E|ANKRD5_uc010gbz.3_Missense_Mutation_p.G7E	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	196							calcium ion binding	p.G196G(1)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCAAGAGAAGGGGTAGTGGAA	0.448000														124			22		0	0	0.00047179	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420974	55420974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:55420974G>A	uc001sgp.4	+	1	1129	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	NEUROD4_uc021qyr.1_Missense_Mutation_p.G251S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	251					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G251G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCCTTATGAGGGCCCACTCAC	0.512000														14			5		0	0	0.000602214	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504524	151504524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:151504524G>A	uc003ilw.3	+	0	1448	c.343G>A	c.(343-345)Gag>Aag	p.E115K	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	115					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCTCTGGGTCGAGTTCATCAC	0.627000														48			15		0	0	0.000566183	0	0
ST14	6768	broad.mit.edu	37	11	130069911	130069911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:130069911G>A	uc001qfw.3	+	15	2066	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	625	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGATGAGGGCGAGTGGCCCTG	0.622000														49			6		0	0	0.000274275	0	0
ZNF816	125893	broad.mit.edu	37	19	53453516	53453516	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53453516A>G	uc002qal.2	-	4	1863	c.1512T>C	c.(1510-1512)gcT>gcC	p.A504A	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.A504A|ZNF816_uc002qam.2_Silent_p.A504A	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GTTTCTCTCCAGCATGAAGTC	0.393000														82			10		0	0	0.000442599	0	0
SGSM1	129049	broad.mit.edu	37	22	25315900	25315900	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25315900T>A	uc003abg.2	+	24	3455	c.3298T>A	c.(3298-3300)Tac>Aac	p.Y1100N	SGSM1_uc010guu.1_Missense_Mutation_p.Y1045N|SGSM1_uc003abh.2_Missense_Mutation_p.Y1039N|SGSM1_uc003abj.2_Missense_Mutation_p.Y984N|SGSM1_uc003abi.1_Missense_Mutation_p.Y1020N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1100						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGTGGAAGTCTACCGTGACAT	0.507000														14			6		0	0	8.12818e-05	0	0
NXPH1	30010	broad.mit.edu	37	7	8791023	8791023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:8791023G>A	uc003srv.3	+	2	1351	c.440G>A	c.(439-441)gGg>gAg	p.G147E	NXPH1_uc011jxh.2_Missense_Mutation_p.G30E	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	147	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CATGGCAATGGGACATTTAGT	0.388000														40			7		0	0	0.000274275	0	0
THEMIS	387357	broad.mit.edu	37	6	128150694	128150694	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:128150694C>T	uc011ebt.2	-	2	785	c.636G>A	c.(634-636)acG>acA	p.T212T	THEMIS_uc010kfa.3_Silent_p.T115T|THEMIS_uc021zfa.1_Silent_p.T212T|THEMIS_uc010kfb.3_Silent_p.T177T	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	212	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GAAATGGATTCGTTGAGTCCC	0.353000														87			19		0	0	0.00152264	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:20248603G>A	uc010tku.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(2)|p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000														181			11		0	0	0.000308642	0	0
TIMM44	10469	broad.mit.edu	37	19	7998984	7998984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:7998984G>A	uc002miz.3	-	4	705	c.533C>T	c.(532-534)gCc>gTc	p.A178V	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	178					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTGGGAGAGGGCTCTGAAGGC	0.687000														62			10		0	0	0.00185496	0	0
RBM43	375287	broad.mit.edu	37	2	152112232	152112232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152112232G>A	uc002txh.3	-	1	177	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	10							RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGGAGCTTTGGATTCCTTGAC	0.383000														44			9		0	0	0.000274275	0	0
DRD1	1812	broad.mit.edu	37	5	174869097	174869097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:174869097C>T	uc003mcz.3	-	1	1951	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	DRD1_uc021yia.1_Missense_Mutation_p.D336N	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	336					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TTCCGAAAATCAGCATTAAAG	0.468000														77			13		0	0	0.00136819	0	0
PLCE1	51196	broad.mit.edu	37	10	96073091	96073091	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96073091C>T	uc001kjk.3	+	27	6718	c.6084C>T	c.(6082-6084)acC>acT	p.T2028T	PLCE1_uc010qnx.2_Silent_p.T2012T|PLCE1_uc001kjm.3_Silent_p.T1720T|PLCE1_uc001kjp.3_Silent_p.T386T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2028	Ras-associating 1.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCCCTTTACCGTTTTCACTA	0.463000														96			10		0	0	0.00136819	0	0
LY9	4063	broad.mit.edu	37	1	160793333	160793333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:160793333G>A	uc001fwu.3	+	7	1627	c.1577G>A	c.(1576-1578)aGg>aAg	p.R526K	LY9_uc001fwv.3_Missense_Mutation_p.R512K|LY9_uc001fww.3_Missense_Mutation_p.R436K|LY9_uc001fwy.1_Missense_Mutation_p.R324K|LY9_uc001fwz.3_Missense_Mutation_p.R164K	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	526					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGCCTGCCAGGCAACAGCCT	0.572000														36			6		0	0	8.12818e-05	0	0
CACNA1A	773	broad.mit.edu	37	19	13565977	13565977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:13565977G>A	uc002mwy.3	-	1	579	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	CACNA1A_uc010xnd.2_Missense_Mutation_p.L115F|CACNA1A_uc021ups.1_Missense_Mutation_p.L115F|CACNA1A_uc010xne.2_Missense_Mutation_p.L115F|CACNA1A_uc010dze.2_Missense_Mutation_p.L115F|CACNA1A_uc021upt.1_Missense_Mutation_p.L115F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	115					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGTGCGAGGACGATGCAA	0.453000														187			16		0	0	0.00152264	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727286	25727286	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:25727286C>T	uc003nfd.3	+	0	150	c.150C>T	c.(148-150)gtC>gtT	p.V50V	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	50					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TAAAGCAGGTCCATCCGGACA	0.453000														52			5		0	0	0.000602214	0	0
MED12L	116931	broad.mit.edu	37	3	151131073	151131073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151131073G>A	uc003eyp.3	+	39	6311	c.6182G>A	c.(6181-6183)aGa>aAa	p.R2061K	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2061	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGCAGAGACTCCTCCAG	0.512000														49			5		0	0	0.00116845	0	0
TMEM161B	153396	broad.mit.edu	37	5	87516402	87516402	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:87516402G>A	uc003kjc.3	-	4	549	c.424C>T	c.(424-426)Cta>Tta	p.L142L	TMEM161B_uc011cty.2_Silent_p.L131L|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Silent_p.L9L|TMEM161B_uc011ctx.2_5'UTR	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	142						integral to membrane		p.L142L(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAAACAAGTAGGCACCAGACT	0.338000														94			18		0	0	0.000958276	0	0
LRP1B	53353	broad.mit.edu	37	2	141143522	141143522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:141143522C>T	uc002tvj.1	-	66	11443	c.10471G>A	c.(10471-10473)Gat>Aat	p.D3491N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3491	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3491N(2)|p.P3490P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCCAGTGATCGGGAATACAG	0.378000										TSP Lung(27;0.18)				57			16		0	0	0.000566183	0	0
NEB	4703	broad.mit.edu	37	2	152522747	152522747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152522747C>T	uc021vrb.1	-	38	4917	c.4888G>A	c.(4888-4890)Gat>Aat	p.D1630N	NEB_uc002txu.3_Missense_Mutation_p.D1630N|NEB_uc021vrc.1_Missense_Mutation_p.D1630N|NEB_uc010fnx.3_Missense_Mutation_p.D1630N|NEB_uc021vrd.1_Missense_Mutation_p.D1630N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1630					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGACCATATCCAGAGGTGTG	0.488000														107			11		0	0	0.000422831	0	0
USH2A	7399	broad.mit.edu	37	1	215901467	215901467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:215901467G>A	uc001hku.1	-	60	12358	c.11971C>T	c.(11971-11973)Ccc>Tcc	p.P3991S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3991	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3991H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCCATTGGGAGATTCTGGC	0.488000										HNSCC(13;0.011)				57			10		0	0	0.000442599	0	0
ANKIB1	54467	broad.mit.edu	37	7	91936884	91936884	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:91936884G>T	uc003ulw.2	+	2	776	c.400G>T	c.(400-402)Gag>Tag	p.E134*		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	134							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGGTGAATATGAGAGAGCAGC	0.428000														57			13		1.05317e-09	5.48161e-09	0.000219431	1	0
C11orf75	56935	broad.mit.edu	37	11	93212333	93212333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:93212333G>A	uc021qos.1	-	0	23	c.23C>T	c.(22-24)cCc>cTc	p.P8L	C11orf75_uc001pds.4_Missense_Mutation_p.P8L	NM_020179	NP_064564	Q9NRQ5	CK075_HUMAN	Homo sapiens chromosome 11 open reading frame 75 (C11orf75), mRNA.	8						integral to membrane				endometrium(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTCCTTCTTGGGCTTCCCTTT	0.602000														53			12		0	0	0.000308642	0	0
OR2T11	127077	broad.mit.edu	37	1	248790161	248790161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248790161G>A	uc001ier.1	-	0	269	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCACAAAGGAAATGATCTT	0.493000														19			5		0	0	0.000602214	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82363475	82363475	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:82363475C>T	uc003hmi.1	-	8	1128	c.984G>A	c.(982-984)aaG>aaA	p.K328K	RASGEF1B_uc003hmj.1_Silent_p.K327K|RASGEF1B_uc010ijq.1_Silent_p.K286K	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	328	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.V327L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATTTTGCAGTCTTCACTTTGG	0.393000														85			7		0	0	8.12818e-05	0	0
FBN3	84467	broad.mit.edu	37	19	8131007	8131007	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8131007G>A	uc002mjf.3	-	62	8243	c.8226C>T	c.(8224-8226)gtC>gtT	p.V2742V	FBN3_uc002mje.3_Silent_p.V538V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2742						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.V2742I(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTTCCGCGGACGATGACGT	0.692000														48			7		0	0	0.000274275	0	0
ITSN1	6453	broad.mit.edu	37	21	35166652	35166652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:35166652G>A	uc002yta.1	+	16	2100	c.1832G>A	c.(1831-1833)aGa>aAa	p.R611K	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.R495K|ITSN1_uc002ysy.3_Missense_Mutation_p.R611K|ITSN1_uc002ysx.3_Missense_Mutation_p.R574K|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.R611K|ITSN1_uc010gmg.3_Missense_Mutation_p.R574K|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.R611K|ITSN1_uc010gmi.3_Missense_Mutation_p.R574K|ITSN1_uc002ytb.1_Missense_Mutation_p.R611K|ITSN1_uc002ytc.1_Missense_Mutation_p.R611K|ITSN1_uc010gmk.3_Missense_Mutation_p.R574K|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.R611K|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.R545K|ITSN1_uc021wip.1_Missense_Mutation_p.R505K	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	611	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAGGAACTAAGAGAAATACAC	0.373000														43			14		0	0	0.000422831	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617786	111617786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:111617786G>A	uc004bdi.3	-	0	490	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	142						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTGCTCCTCGGGGAGGATCTT	0.627000														27			6		0	0	8.12818e-05	0	0
LAMB1	3912	broad.mit.edu	37	7	107626714	107626714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107626714G>A	uc003vev.2	-	3	751	c.590C>T	c.(589-591)tCg>tTg	p.S197L	LAMB1_uc003vew.2_Missense_Mutation_p.S173L|LAMB1_uc003vex.3_Missense_Mutation_p.S173L|LAMB1_uc010ljn.1_Missense_Mutation_p.S259L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	173	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S173L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAAACGAGGCCTCACA	0.453000														69			9		0	0	0.000274275	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810698	106810698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:106810698C>T	uc009yxn.1	-	3	1084	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	GUCY1A2_uc001pjg.1_Missense_Mutation_p.E232K|GUCY1A2_uc010rvo.1_Missense_Mutation_p.E232K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	232					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGAGTACCTTCAGGGAGCTCT	0.458000														73			16		0	0	0.000422831	0	0
LPA	4018	broad.mit.edu	37	6	161010726	161010727	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:161010726_161010727GG>AA	uc003qtl.3	-	24	3925_3926	c.3805_3806CC>TT	c.(3805-3807)ccc>TTc	p.P1269F		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3777	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGACTGTGGGGCTTTGCTCC	0.446000														33			8		0	0	6.4e-05	0	0
ABCA12	26154	broad.mit.edu	37	2	215821458	215821458	+	Silent	SNP	C	T	T	rs143237945	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:215821458C>T	uc002vew.3	-	41	6382	c.6162G>A	c.(6160-6162)gcG>gcA	p.A2054A	ABCA12_uc002vev.3_Silent_p.A1736A|ABCA12_uc010zjn.2_Silent_p.A981A	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2054					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A2054A(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTGAAAATCGCAATGATAC	0.358000														81			14		0	0	0.00074312	0	0
ESM1	11082	broad.mit.edu	37	5	54277969	54277969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:54277969G>A	uc003jpk.3	-	1	376	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	ESM1_uc010ivt.3_Intron	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	103					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GTGCCGTAGGGACAGTCTGGG	0.532000														37			5		0	0	0.000602214	0	0
PAX8	7849	broad.mit.edu	37	2	113999250	113999250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113999250G>A	uc010yxt.2	-	6	821	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	PAX8_uc010yxu.2_Missense_Mutation_p.P219S|PAX8_uc002tjm.3_Missense_Mutation_p.P219S|PAX8_uc002tjn.3_Missense_Mutation_p.P219S|PAX8_uc010fku.1_Missense_Mutation_p.P219S|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	219					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTCGGGGTCCGCTGCTG	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis							38			12		0	0	0.000308642	0	0
FGA	2243	broad.mit.edu	37	4	155508759	155508759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:155508759C>T	uc003iod.1	-	3	473	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FGA_uc003ioe.1_Missense_Mutation_p.E139K|FGA_uc003iof.1_Missense_Mutation_p.E139K	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	139					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGGACTTCAATTCTGCTT	0.408000														52			6		0	0	8.12818e-05	0	0
CCDC171	203238	broad.mit.edu	37	9	15591488	15591488	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:15591488C>T	uc011lmu.2	+	3	588	c.477C>T	c.(475-477)atC>atT	p.I159I	CCDC171_uc010mih.1_Silent_p.I159I|CCDC171_uc003zmd.3_Silent_p.I159I|CCDC171_uc003zme.3_Silent_p.I66I|CCDC171_uc003zmc.2_Silent_p.I159I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	159	Glu-rich.																ACAATATGATCCAAAATTGCA	0.313000														62			11		0	0	0.000219431	0	0
PSG11	5680	broad.mit.edu	37	19	43519496	43519496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43519496G>A	uc002ovm.1	-	3	843	c.736C>T	c.(736-738)Cct>Tct	p.P246S	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P124S|PSG11_uc002ovo.1_Missense_Mutation_p.P124S	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	246	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGACTGAAGGGAAAATTCTG	0.468000														103			19		0	0	0.00152264	0	0
EIF4G3	8672	broad.mit.edu	37	1	21167511	21167511	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:21167511T>A	uc001bec.3	-	24	3987	c.3731A>T	c.(3730-3732)cAg>cTg	p.Q1244L	EIF4G3_uc010odi.2_Missense_Mutation_p.Q848L|EIF4G3_uc010odj.2_Missense_Mutation_p.Q1243L|EIF4G3_uc009vpz.3_Missense_Mutation_p.Q964L|EIF4G3_uc001bef.3_Missense_Mutation_p.Q1280L|EIF4G3_uc001bee.3_Missense_Mutation_p.Q1250L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1244	MI.				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCCACACACTGCATGGCTTC	0.438000														52			9		0	0	0.000442599	0	0
CDH23	64072	broad.mit.edu	37	10	73330619	73330619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:73330619G>A	uc001jrx.4	+	7	1087	c.697G>A	c.(697-699)Gac>Aac	p.D233N	CDH23_uc001jrw.4_Missense_Mutation_p.D233N|CDH23_uc001jry.3_Missense_Mutation_p.D233N|CDH23_uc001jrz.3_Missense_Mutation_p.D233N|CDH23_uc021psl.1_Missense_Mutation_p.D233N|CDH23_uc009xql.3_Missense_Mutation_p.D233N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	233	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGGACATGGACCCCATCTT	0.537000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			7		0	0	0.000274275	0	0
CASR	846	broad.mit.edu	37	3	122003591	122003591	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:122003591G>A	uc003eew.4	+	6	3258	c.2820G>A	c.(2818-2820)caG>caA	p.Q940Q	CASR_uc003eev.4_Silent_p.Q930Q	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	930					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCGAGAGGCAGAAGCAGCAGC	0.642000														10			6		0	0	0.000274275	0	0
RIMS1	22999	broad.mit.edu	37	6	72945352	72945352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:72945352G>A	uc003pga.3	+	7	1855	c.1778G>A	c.(1777-1779)gGg>gAg	p.G593E	RIMS1_uc011dyb.2_Missense_Mutation_p.G219E|RIMS1_uc003pgc.3_Missense_Mutation_p.G219E|RIMS1_uc010kaq.3_Missense_Mutation_p.G67E|RIMS1_uc011dyc.2_Missense_Mutation_p.G67E|RIMS1_uc010kar.3_5'UTR|RIMS1_uc011dyd.2_Missense_Mutation_p.G52E|RIMS1_uc003pgb.4_Missense_Mutation_p.G219E|RIMS1_uc010kas.1_Missense_Mutation_p.G52E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	593					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCTAAAGAGGGGGACCGATTA	0.363000														12			4		0	0	0.000602214	0	0
SYT3	84258	broad.mit.edu	37	19	51135934	51135934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51135934G>A	uc002pst.3	-	1	917	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	SYT3_uc002psv.3_Missense_Mutation_p.P95S|SYT3_uc010ycd.2_Missense_Mutation_p.P95S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	95						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGCGCAGGGGGCCACCGCCC	0.677000														25			7		0	0	0.000274275	0	0
C20orf26	26074	broad.mit.edu	37	20	20056178	20056178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:20056178G>A	uc002wru.3	+	5	599	c.485G>A	c.(484-486)tGt>tAt	p.C162Y	C20orf26_uc010gcw.2_Missense_Mutation_p.C116Y|C20orf26_uc010zse.2_Missense_Mutation_p.C162Y|C20orf26_uc010zsf.1_Missense_Mutation_p.C162Y	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	162										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACATCCCGTGTCTGACGTAT	0.438000														128			23		0	0	0.000878237	0	0
RIT2	6014	broad.mit.edu	37	18	40323527	40323527	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:40323527C>T	uc002lav.3	-	4	758	c.585G>A	c.(583-585)ctG>ctA	p.L195L	RIT2_uc010dnf.3_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	195					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTTCTCTTCAGTTTCTTTT	0.423000														104			10		0	0	0.000978159	0	0
SYCP1	6847	broad.mit.edu	37	1	115453021	115453021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:115453021G>A	uc001efr.3	+	16	1533	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E442K|SYCP1_uc009wgw.3_Missense_Mutation_p.E442K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	442					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAATAGGGAGAAAAGGAAAC	0.338000														52			9		0	0	0.000442599	0	0
NOM1	64434	broad.mit.edu	37	7	156752864	156752864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:156752864C>T	uc003wmy.3	+	3	1643	c.1628C>T	c.(1627-1629)aCc>aTc	p.T543I	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	543	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CAGGACCAGACCAGGGTACGC	0.478000														71			16		0	0	0.00074312	0	0
FMN2	56776	broad.mit.edu	37	1	240370649	240370649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:240370649C>T	uc010pye.2	+	5	2774	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	FMN2_uc010pyd.2_Missense_Mutation_p.S846F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	846	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G850C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTCTGTTTCCTCTGCCTTT	0.567000														41			10		0	0	0.000442599	0	0
BDP1	55814	broad.mit.edu	37	5	70819988	70819988	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:70819988T>C	uc003kbp.1	+	24	5873	c.5610T>C	c.(5608-5610)gcT>gcC	p.A1870A	BDP1_uc003kbo.3_Silent_p.A1870A|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1870					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.R1869L(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTCTTCGGGCTTCCCAGGAAG	0.468000														118			20		0	0	0.00188189	0	0
CACNA1E	777	broad.mit.edu	37	1	181725182	181725182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181725182G>A	uc009wxt.3	+	28	4275	c.4080G>A	c.(4078-4080)tgG>tgA	p.W1360*	CACNA1E_uc001gow.3_Nonsense_Mutation_p.W1360*|CACNA1E_uc009wxs.3_Nonsense_Mutation_p.W1341*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.W586*	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1360					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACATTATCTGGGCCCTGCTGA	0.512000														17			5		0	0	0.000602214	0	0
VCAN	1462	broad.mit.edu	37	5	82808152	82808152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:82808152C>T	uc003kii.3	+	5	1335	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	VCAN_uc003kij.3_Missense_Mutation_p.R327C|VCAN_uc010jau.2_Missense_Mutation_p.R327C|VCAN_uc003kik.3_Missense_Mutation_p.R327C|VCAN_uc003kih.4_Missense_Mutation_p.R327C	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	327	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACCCTGTATCGTTTTGAGAA	0.507000														38			11		0	0	0.000219431	0	0
AP3B2	8120	broad.mit.edu	37	15	83346866	83346866	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:83346866C>T	uc010uoi.2	-	10	1413	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	AP3B2_uc010uoh.2_Silent_p.R412R|AP3B2_uc010uoj.2_Silent_p.R380R|AP3B2_uc010uog.2_Silent_p.R48R	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	412					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTGGAATTCCCGTAGGACAG	0.587000														38			6		0	0	8.12818e-05	0	0
HEMGN	55363	broad.mit.edu	37	9	100692587	100692587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:100692587C>T	uc004axy.3	-	2	1198	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	HEMGN_uc004axz.3_Missense_Mutation_p.E364K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	364					cell differentiation|multicellular organismal development			p.E364E(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAATATTTTTCAGACCCAGGA	0.368000														158			19		0	0	0.000958276	0	0
MYO5B	4645	broad.mit.edu	37	18	47376027	47376027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:47376027G>A	uc002leb.2	-	31	4513	c.4225C>T	c.(4225-4227)Ctt>Ttt	p.L1409F	MYO5B_uc002ldz.3_5'UTR|MYO5B_uc002lea.2_Missense_Mutation_p.L524F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1409					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTTCTTTAAGGTCCTGGAAG	0.512000														79			7		0	0	0.000157383	0	0
ARMC4	55130	broad.mit.edu	37	10	28229653	28229653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:28229653G>A	uc009xky.3	-	12	1923	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	ARMC4_uc010qds.2_Missense_Mutation_p.R134C|ARMC4_uc010qdt.2_Missense_Mutation_p.R301C|ARMC4_uc001itz.3_Missense_Mutation_p.R609C|ARMC4_uc010qdu.1_Missense_Mutation_p.R301C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	609							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCCCCACAGCGAGCCACTTCC	0.507000														58			6		0	0	8.12818e-05	0	0
SYT5	6861	broad.mit.edu	37	19	55686019	55686019	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55686019C>T	uc002qjm.1	-	7	1887	c.827_splice	c.e7-1	p.D276_splice	SYT5_uc002qjp.2_Splice_Site_p.D272_splice|SYT5_uc002qjn.1_Splice_Site_p.D276_splice|SYT5_uc002qjo.1_Splice_Site_p.D275_splice	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	276	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACGTATGGATCTGGGGAGAGG	0.527000														74			10		0	0	0.00136819	0	0
NOS1	4842	broad.mit.edu	37	12	117768203	117768203	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:117768203C>T	uc001twn.2	-	1	1383	c.672G>A	c.(670-672)aaG>aaA	p.K224K	NOS1_uc001twm.2_Silent_p.K224K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	224	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGCCCCTCCCTTGACCCCTC	0.557000														75			24		0	0	0.000878237	0	0
C1orf53	388722	broad.mit.edu	37	1	197876332	197876332	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:197876332T>A	uc001guh.3	+	2	518	c.420T>A	c.(418-420)aaT>aaA	p.N140K		NM_001024594	NP_001019765	Q5VUE5	CA053_HUMAN	Homo sapiens chromosome 1 open reading frame 53 (C1orf53), mRNA.	140										endometrium(1)|lung(1)	2						AGCAATTCAATTCATATTTTT	0.269000														64			12		0	0	0.000566183	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708410	37708410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:37708410G>A	uc004aag.1	+	3	318	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	FRMPD1_uc004aah.1_Missense_Mutation_p.G92S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	92	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGCTCACGGCAAGCTTTT	0.488000														68			15		0	0	0.00121646	0	0
MAGI2	9863	broad.mit.edu	37	7	77885668	77885668	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:77885668A>T	uc003ugx.3	-	9	1893	c.1639T>A	c.(1639-1641)Tat>Aat	p.Y547N	MAGI2_uc003ugy.3_Missense_Mutation_p.Y547N|MAGI2_uc010ldx.1_Missense_Mutation_p.Y156N|MAGI2_uc010ldy.1_Missense_Mutation_p.Y156N|MAGI2_uc011kgr.1_Missense_Mutation_p.Y379N|MAGI2_uc011kgs.1_Missense_Mutation_p.Y384N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	547						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TACTCCAAATATGTTTCATAG	0.493000														41			17		0	0	0.000958276	0	0
NCAPG2	54892	broad.mit.edu	37	7	158439232	158439232	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:158439232G>A	uc011kwe.1	-	24	3244	c.3099C>T	c.(3097-3099)acC>acT	p.T1033T	NCAPG2_uc010lqu.1_Silent_p.T778T|NCAPG2_uc003wnx.1_Silent_p.T1033T|NCAPG2_uc003wnv.1_Silent_p.T1033T|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Silent_p.T487T|NCAPG2_uc011kwd.1_Silent_p.T476T	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	1033					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTCTGGAGGGGTAAGCTCTT	0.363000														50			8		0	0	0.000442599	0	0
HRG	3273	broad.mit.edu	37	3	186383975	186383975	+	Missense_Mutation	SNP	G	A	A	rs115116898	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:186383975G>A	uc003fqq.3	+	0	178	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	52	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAATTGCTGCGGATTGCTGAT	0.537000														74			16		0	0	0.000422831	0	0
NPR3	4883	broad.mit.edu	37	5	32739084	32739084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:32739084C>T	uc003jhv.3	+	2	1452	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	NPR3_uc010iuo.3_Missense_Mutation_p.S120F|NPR3_uc003jhw.2_Missense_Mutation_p.S120F|NPR3_uc003jhu.3_Missense_Mutation_p.S336F	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	336					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGAAGTTTTCCATGGAGGTG	0.443000														101			14		0	0	0.00185496	0	0
CTNNA3	29119	broad.mit.edu	37	10	69407235	69407235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:69407235G>A	uc009xpn.1	-	1	160	c.37C>T	c.(37-39)Cct>Tct	p.P13S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P13S|CTNNA3_uc001jmx.4_Missense_Mutation_p.P13S|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.P25S	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	13					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P13H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGATCCTGAGGATCGATATTC	0.388000														116			9		0	0	0.000673444	0	0
FBXO24	26261	broad.mit.edu	37	7	100198450	100198451	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100198450_100198451GG>AA	uc011kjz.1	+	9	1853_1854	c.1785_1786GG>AA	c.(1783-1788)tgggag>tgAAag	p.595_596WE>*K	FBXO24_uc003uvm.1_Nonsense_Mutation_p.557_558WE>*K|FBXO24_uc003uvn.1_Nonsense_Mutation_p.195_196WE>*K|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Nonsense_Mutation_p.545_546WE>*K|LOC100129845_uc022air.1_Non-coding_Transcript|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	557						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTTCTTCTGGGAGGCCCTGGA	0.619000														40			8		0	0	6.4e-05	0	0
PTN	5764	broad.mit.edu	37	7	136938300	136938300	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:136938300C>A	uc003vtq.2	-	2	563	c.200G>T	c.(199-201)cGg>cTg	p.R67L		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	67					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.R67Q(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						AGTGCCCTCCCGTGTGCCCAG	0.522000														57			6		0.00116845	0.00599602	0.00116845	1	0
CYP3A7	1551	broad.mit.edu	37	7	99312297	99312297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:99312297G>A	uc003uru.3	-	7	782	c.679C>T	c.(679-681)Cca>Tca	p.P227S	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	227					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTAAGGAATGGAAAGACTTCT	0.313000														118			23		0	0	0.000878237	0	0
PSG11	5680	broad.mit.edu	37	19	43529050	43529050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43529050G>A	uc002ovm.1	-	1	330	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Intron|PSG11_uc002ovo.1_Intron	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	75	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TAATGGTAGAGGTCCCTGATT	0.443000														109			20		0	0	0.000295444	0	0
SLC6A13	6540	broad.mit.edu	37	12	347141	347142	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:347141_347142GG>TT	uc001qic.2	-	4	603_604	c.513_514CC>AA	c.(511-516)tccctg>tcAAtg	p.L172M	SLC6A13_uc009zdj.2_Missense_Mutation_p.L172M|SLC6A13_uc010sdl.2_Missense_Mutation_p.L80M|SLC6A13_uc010sdm.1_Missense_Mutation_p.L53M	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	172					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S171C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTACCATTCAGGGAGCCGTTGG	0.525000														96			7		0	0	6.4e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:70889118G>A	uc002ezr.3	-	72	12504	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4119								p.S4070F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTCCTGGAAGGAAAAATCGAA	0.527000														46			9		0	0	0.000978159	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:167656143C>T	uc011cjq.1	-	9	1324	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E294K|SPOCK3_uc003iri.1_Missense_Mutation_p.E414K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E363K|SPOCK3_uc003irj.1_Missense_Mutation_p.E411K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E322K|SPOCK3_uc011cjp.2_Missense_Mutation_p.E371K|SPOCK3_uc011cju.1_Missense_Mutation_p.E318K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E316K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D423N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000														29			6		0	0	0.00116845	0	0
FLG	2312	broad.mit.edu	37	1	152286427	152286427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152286427C>T	uc001ezu.1	-	2	971	c.935G>A	c.(934-936)aGg>aAg	p.R312K	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	312	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGAGTGCCTCTCAGAGTC	0.557000									Ichthyosis					142			8		0	0	0.000157383	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628950	51628950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51628950G>A	uc010yct.2	+	1	613	c.518G>A	c.(517-519)gGg>gAg	p.G173E	SIGLEC9_uc002pvu.3_Missense_Mutation_p.G173E	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	173	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.Q172Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGTGAGCAGGGGACACCCCCT	0.667000														56			10		0	0	0.000978159	0	0
ITGAL	3683	broad.mit.edu	37	16	30525122	30525122	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:30525122C>T	uc002dyi.4	+	24	2993	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	ITGAL_uc002dyj.4_Silent_p.F855F|ITGAL_uc010vev.2_Silent_p.F173F	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	939					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGTCAGTTTCACCCCCAAAG	0.517000														40			8		0	0	0.000442599	0	0
MTUS1	57509	broad.mit.edu	37	8	17611335	17611335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:17611335C>T	uc003wxv.3	-	1	2456	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.R661K|MTUS1_uc010lsz.3_Missense_Mutation_p.R661K	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	661						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGCTAATCCTATCAATGTT	0.383000														59			6		0	0	0.00116845	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504252	220504252	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220504252C>T	uc002vmo.4	+	19	3362	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	SLC4A3_uc002vmp.4_Silent_p.F1024F|SLC4A3_uc010fwm.3_Silent_p.F574F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1024	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCGGTTTCCACCTGGACC	0.682000														32			8		0	0	0.000442599	0	0
DLX5	1749	broad.mit.edu	37	7	96651497	96651497	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:96651497C>T	uc003uon.3	-	2	748	c.540_splice	c.e2+1	p.Q180_splice	DLX5_uc011kim.1_Silent_p.Q180Q	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	180					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCGTATTTACCTGTGTTTGTG	0.582000														113			18		0	0	0.00152264	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129927071	129927071	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129927071A>C	uc003qbr.3	-	9	1405	c.1316T>G	c.(1315-1317)tTg>tGg	p.L439W	ARHGAP18_uc011ebw.2_Missense_Mutation_p.L439W	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	439	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AAGAAGGTTCAAAGCCTGTAG	0.363000														120			10		0	0	0.00136819	0	0
NXF3	56000	broad.mit.edu	37	X	102332623	102332623	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:102332623C>T	uc004eju.3	-	17	1574	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	NXF3_uc010noi.1_3'UTR	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	501						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CACTCTGGGTCCCTTGGTGGC	0.572000														40			6		0	0	0.000157383	0	0
GALP	85569	broad.mit.edu	37	19	56696603	56696603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56696603G>A	uc002qmo.1	+	5	397	c.315G>A	c.(313-315)atG>atA	p.M105I	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	105					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGCTCAGCATGAAAATTCCCA	0.433000														37			7		0	0	0.000442599	0	0
BRAF	673	broad.mit.edu	37	7	140439656	140439656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:140439656C>T	uc003vwc.4	-	16	2144	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	695	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTGAGGCACTCTGCCATTAAT	0.408000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					85			18		0	0	0.00121646	0	0
NLRP8	126205	broad.mit.edu	37	19	56467047	56467047	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56467047G>A	uc002qmh.3	+	2	1694	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L	NLRP8_uc010etg.3_Silent_p.L541L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	541						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCAGCGCCTGATAGCGAGTC	0.453000														73			13		0	0	0.000219431	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053535	5053535	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:5053535C>T	uc002cye.2	+	10	1443	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	421	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGCTCATCGTGCGAGCCC	0.657000														57			8		0	0	0.000442599	0	0
CATSPERD	257062	broad.mit.edu	37	19	5744516	5744516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:5744516G>A	uc002mda.3	+	7	713	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	218						integral to membrane											AGTGAATCAAGGGAAGGTAAG	0.393000														64			14		0	0	0.000219431	0	0
LOC728819	728819	broad.mit.edu	37	2	43902654	43902654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:43902654C>T	uc010fav.1	-	0	808	c.808G>A	c.(808-810)Gat>Aat	p.D270N	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATAGCCATATCTGAACAGCAG	0.413000														378			82		0	0	0.000781405	0	0
MEIS2	4212	broad.mit.edu	37	15	37242539	37242539	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:37242539G>A	uc001zjr.3	-	8	2037	c.963C>T	c.(961-963)ctC>ctT	p.L321L	MEIS2_uc001zjl.3_Silent_p.L308L|MEIS2_uc010ucj.2_Silent_p.L308L|MEIS2_uc001zjm.3_Silent_p.L233L|MEIS2_uc001zjn.3_Silent_p.L175L|MEIS2_uc001zjo.3_Silent_p.L321L|MEIS2_uc001zjp.3_Silent_p.L321L|MEIS2_uc001zjs.3_Silent_p.L321L|MEIS2_uc001zju.3_Silent_p.L308L|MEIS2_uc001zjt.3_Silent_p.L321L	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	321					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGTTTACTTGGAGAATTGTAA	0.353000														86			7		0	0	0.000157383	0	0
ALLC	55821	broad.mit.edu	37	2	3744985	3744985	+	Silent	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:3744985T>G	uc010ewt.3	+	9	950	c.789T>G	c.(787-789)gtT>gtG	p.V263V	ALLC_uc002qyf.3_Silent_p.V34V	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	282							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AATGGGCAGTTTTCCGATTGG	0.373000										HNSCC(21;0.051)				167			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9068223	9068223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9068223C>T	uc002mkp.3	-	2	19427	c.19223G>A	c.(19222-19224)aGa>aAa	p.R6408K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6410	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGATGTTCTGCTAGAGGA	0.483000														64			6		0	0	0.000157383	0	0
ABCC8	6833	broad.mit.edu	37	11	17418816	17418816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17418816C>T	uc001mnc.3	-	31	4038	c.3912G>A	c.(3910-3912)atG>atA	p.M1304I		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1304	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTGGAGCTCCATGTCTGCCA	0.612000														93			18		0	0	0.000295444	0	0
ANK3	288	broad.mit.edu	37	10	62029966	62029966	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:62029966T>A	uc001jky.3	-	4	774	c.436A>T	c.(436-438)Atg>Ttg	p.M146L	ANK3_uc010qih.2_Missense_Mutation_p.M129L|ANK3_uc001jkz.4_Missense_Mutation_p.M140L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	146					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M146V(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGCTGCCATATACAATGGC	0.398000														58			5		0	0	8.12818e-05	0	0
TIGIT	201633	broad.mit.edu	37	3	114014392	114014392	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:114014392G>A	uc003ebg.2	+	2	817	c.62_splice	c.e2-1	p.G21_splice		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	21					negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TCTTCCCTAGGAATGATGACA	0.493000														121			17		0	0	0.000375601	0	0
SAGE1	55511	broad.mit.edu	37	X	134994496	134994496	+	Silent	SNP	C	T	T	rs137933327	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:134994496C>T	uc004ezh.3	+	18	2705	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Silent_p.F470F	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	846								p.F846S(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAGAATTTTCATTTTGCTTG	0.318000														71			19		0	0	0.00121646	0	0
SV2B	9899	broad.mit.edu	37	15	91827361	91827361	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:91827361C>G	uc002bqv.3	+	11	2509	c.1618C>G	c.(1618-1620)Ctc>Gtc	p.L540V	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.L389V	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	540					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTGATTTACCTCGTCAGCTT	0.502000														342			32		0	0	0.00128727	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236879	55236879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:55236879C>T	uc001xbb.3	+	7	1959	c.1651C>T	c.(1651-1653)Ctc>Ttc	p.L551F	SAMD4A_uc001xbc.3_Missense_Mutation_p.L464F|SAMD4A_uc001xbg.2_Missense_Mutation_p.L143F	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	552					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGTGCAGAAGCTCTTTCGGTC	0.423000														93			12		0	0	0.000978159	0	0
SENP2	59343	broad.mit.edu	37	3	185332406	185332406	+	Missense_Mutation	SNP	C	T	T	rs145126254		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:185332406C>T	uc003fpn.3	+	10	1159	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	SENP2_uc011brv.2_Missense_Mutation_p.R320C|SENP2_uc011brw.2_Missense_Mutation_p.R143C	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	330					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding	p.L330F(2)|p.R330C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGCCCGACTCCGCCTGGGCAG	0.458000														302			20		0	0	0.000375601	0	0
CAMK4	814	broad.mit.edu	37	5	110819866	110819866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:110819866G>A	uc003kpf.3	+	10	1359	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	CAMK4_uc010jbv.3_Missense_Mutation_p.G178E|CAMK4_uc003kpg.3_Missense_Mutation_p.G66E	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	375					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTCCAGAAGGAGAGAAAATT	0.532000														61			15		0	0	0.000219431	0	0
LRGUK	136332	broad.mit.edu	37	7	133861759	133861759	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:133861759T>C	uc003vrm.1	+	8	1067	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	351	LRRCT.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTCGTAATTTTTATGCTTCT	0.338000														145			11		0	0	0.000978159	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32548626	32548626	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32548626C>T	uc003obp.4	-	3	754	c.660G>A	c.(658-660)cgG>cgA	p.R220R	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Intron|HLA-DRB5_uc011dqc.1_Silent_p.R50R	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	220	Beta-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CAGATTCAGACCGTGCTCCTG	0.483000														79			7		0	0	0.000157383	0	0
IFIH1	64135	broad.mit.edu	37	2	163124026	163124026	+	Missense_Mutation	SNP	T	A	A	rs116508532	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:163124026T>A	uc002uce.3	-	14	3083	c.2861A>T	c.(2860-2862)tAt>tTt	p.Y954F		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	954					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTTATTTGATAGTCGGCACA	0.368000														79			6		0	0	0.000157383	0	0
KIF2B	84643	broad.mit.edu	37	17	51901483	51901483	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:51901483G>A	uc002iua.2	+	0	1245	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	363	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGGGGGCAAGGTGTATGATT	0.473000														72			15		0	0	0.000566183	0	0
PTGS1	5742	broad.mit.edu	37	9	125154644	125154644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125154644C>T	uc004bmg.1	+	10	1756	c.1621C>T	c.(1621-1623)Ccg>Tcg	p.P541S	PTGS1_uc011lys.1_Missense_Mutation_p.P479S|PTGS1_uc010mwb.1_Missense_Mutation_p.P395S|PTGS1_uc004bmf.1_Missense_Mutation_p.P504S|PTGS1_uc004bmh.1_Missense_Mutation_p.P432S|PTGS1_uc011lyt.1_Missense_Mutation_p.P432S	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	541					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CATCTGTTCTCCGGAGTACTG	0.517000														77			6		0	0	0.00116845	0	0
SPACA1	81833	broad.mit.edu	37	6	88767396	88767396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:88767396G>A	uc003pmn.3	+	2	449	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	111						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTGTTGTACGGGTAGAAGAA	0.393000														36			5		0	0	0.00116845	0	0
GPR125	166647	broad.mit.edu	37	4	22390780	22390780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:22390780G>A	uc003gqm.1	-	17	2919	c.2654C>T	c.(2653-2655)cCc>cTc	p.P885L	GPR125_uc010ieo.1_Missense_Mutation_p.P741L|GPR125_uc003gql.1_Missense_Mutation_p.P12L	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	885					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AACAATGATGGGGATACCACC	0.413000														160			10		0	0	0.000673444	0	0
FREM1	158326	broad.mit.edu	37	9	14801666	14801666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:14801666C>T	uc003zlm.3	-	20	4494	c.3678G>A	c.(3676-3678)atG>atA	p.M1226I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1226					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGAGTTCCATGGAAAAGC	0.413000														28			8		0	0	0.000673444	0	0
CDKAL1	54901	broad.mit.edu	37	6	20955722	20955723	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:20955722_20955723CC>AA	uc003ndd.2	+	9	982_983	c.815_816CC>AA	c.(814-816)ccc>cAA	p.P272Q	CDKAL1_uc003nde.2_Missense_Mutation_p.P202Q|CDKAL1_uc021ymk.1_Missense_Mutation_p.P272Q	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	272					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACCAATCTCCCCACACTCCTGT	0.460000														314			14		0	0	6.4e-05	0	0
NSUN7	79730	broad.mit.edu	37	4	40778248	40778248	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:40778248G>T	uc003gvj.4	+	6	1503	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N	NSUN7_uc003gvi.4_Missense_Mutation_p.K336N	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGACTTGAAGACCCTTTTCA	0.299000														132			21		1.10923e-09	5.77098e-09	0.000375601	1	0
NLRP14	338323	broad.mit.edu	37	11	7079013	7079013	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7079013G>A	uc001mfb.1	+	6	2720	c.2397G>A	c.(2395-2397)ttG>ttA	p.L799L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	799					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATAATCTGTTGGATGATGGAG	0.378000														52			8		0	0	0.000274275	0	0
FADS6	283985	broad.mit.edu	37	17	72877249	72877249	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:72877249G>A	uc002jmd.1	-	3	687	c.675C>T	c.(673-675)ttC>ttT	p.F225F	FADS6_uc010wrn.1_Intron	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	231					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGTGAGGAACATGCAGC	0.602000														14			4		0	0	0.000602214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201371	140201371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140201371C>T	uc003lhl.2	+	0	11	c.11C>T	c.(10-12)tCc>tTc	p.S4F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S4F|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S4F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTATATTCCCGGAGAGGA	0.458000														82			6		0	0	8.12818e-05	0	0
RGS22	26166	broad.mit.edu	37	8	101076245	101076245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:101076245G>A	uc003yjb.1	-	7	946	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	RGS22_uc003yja.1_Missense_Mutation_p.H70Y|RGS22_uc003yjc.1_Missense_Mutation_p.H239Y|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.H155Y	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	251					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCTAGGGTGAACTCCATCA	0.308000														249			17		0	0	0.00152264	0	0
CAPSL	133690	broad.mit.edu	37	5	35910527	35910527	+	Silent	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35910527T>G	uc003jjt.1	-	2	351	c.256A>C	c.(256-258)Agg>Cgg	p.R86R	CAPSL_uc003jju.1_Silent_p.R86R	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	86	EF-hand 2.					cytoplasm	calcium ion binding	p.R85R(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTATCAAACCTCCGGAAAAGT	0.358000														91			21		0	0	0.00188189	0	0
GGH	8836	broad.mit.edu	37	8	63939816	63939816	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:63939816A>G	uc003xuw.3	-	3	567	c.284T>C	c.(283-285)tTc>tCc	p.F95S		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	95	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCCTCCAGGGAAAAGGATTCT	0.348000														105			12		0	0	0.00136819	0	0
PYROXD1	79912	broad.mit.edu	37	12	21608113	21608113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21608113C>T	uc001rew.3	+	5	663	c.536C>T	c.(535-537)gCt>gTt	p.A179V	PYROXD1_uc009ziq.3_5'UTR	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	179							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AAAGATAAAGCTATAGGGAAT	0.338000														80			5		0	0	0.000157383	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531512	140531512	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140531512C>T	uc003lir.3	+	0	1674	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGTTGTACC	0.716000														54			9		0	0	0.000274275	0	0
VWA5A	4013	broad.mit.edu	37	11	123988955	123988955	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123988955G>A	uc001pzu.3	+	4	515	c.306G>A	c.(304-306)ggG>ggA	p.G102G	VWA5A_uc001pzr.3_Silent_p.G102G|VWA5A_uc001pzs.3_Silent_p.G102G|VWA5A_uc010sae.2_Silent_p.G118G|VWA5A_uc001pzt.3_Silent_p.G102G	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	102	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TATTGGAGGGGGACAGCAGCT	0.577000														42			5		0	0	8.12818e-05	0	0
PCDH18	54510	broad.mit.edu	37	4	138453104	138453104	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:138453104G>A	uc003ihe.4	-	0	526	c.139C>T	c.(139-141)Cta>Tta	p.L47L	PCDH18_uc003ihf.4_Silent_p.L40L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	47	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCTCTGATAGTCTTGCAATT	0.398000														42			10		0	0	0.000442599	0	0
AOX1	316	broad.mit.edu	37	2	201501681	201501681	+	Silent	SNP	C	T	T	rs146121085		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:201501681C>T	uc002uvx.3	+	21	2495	c.2394C>T	c.(2392-2394)tgC>tgT	p.C798C	AOX1_uc010zhf.2_Silent_p.C354C|AOX1_uc010fsu.3_Silent_p.C164C	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	798					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGTCATGTGCCATGTAAGGC	0.448000														46			11		0	0	0.000673444	0	0
PTER	9317	broad.mit.edu	37	10	16547034	16547034	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:16547034G>A	uc001iog.1	+	4	921	c.714G>A	c.(712-714)aaG>aaA	p.K238K	PTER_uc001ioh.1_Silent_p.K238K|PTER_uc001ioi.1_Silent_p.K238K|PTER_uc009xjp.1_Intron	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	238					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TTCTTGATAAGAAAGAGCTCT	0.388000														113			8		0	0	0.00136819	0	0
GPR32	2854	broad.mit.edu	37	19	51274748	51274748	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51274748C>T	uc010ycf.2	+	0	891	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	297						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCTGCTCATCCTCCAGGCTA	0.517000														55			10		0	0	0.000978159	0	0
POU2F3	25833	broad.mit.edu	37	11	120117175	120117175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:120117175G>A	uc021qrk.1	+	1	86	c.52G>A	c.(52-54)Gat>Aat	p.D18N	POU2F3_uc001pxc.3_Missense_Mutation_p.D16N|POU2F3_uc010rzk.2_5'UTR|POU2F3_uc010rzl.2_5'UTR	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	16					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GATGAGTGGGGATGTAGCCGA	0.473000														88			17		0	0	0.000566183	0	0
SAMD9	54809	broad.mit.edu	37	7	92734952	92734952	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92734952C>T	uc003umf.3	-	2	729	c.459G>A	c.(457-459)agG>agA	p.R153R	SAMD9_uc003umg.3_Silent_p.R153R|SAMD9_uc022ahg.1_Silent_p.R153R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	153						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGATGGTTGCCTTTCCTTTG	0.368000														75			23		0	0	0.000295444	0	0
SP140	11262	broad.mit.edu	37	2	231103033	231103033	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231103033T>C	uc002vql.3	+	2	458	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Missense_Mutation_p.F115L|SP140_uc002vqk.2_Missense_Mutation_p.F115L|SP140_uc002vqn.3_Missense_Mutation_p.F115L|SP140_uc002vqm.3_Missense_Mutation_p.F115L|SP140_uc010fxl.3_Missense_Mutation_p.F115L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	115	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAAGCATTGTTCAGCAGGAT	0.433000														55			10		0	0	0.000442599	0	0
MYO3B	140469	broad.mit.edu	37	2	171239646	171239646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:171239646G>A	uc002ufy.3	+	10	1275	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	MYO3B_uc002ufv.3_Missense_Mutation_p.D365N|MYO3B_uc010fqb.1_Missense_Mutation_p.D378N|MYO3B_uc002ufz.3_Missense_Mutation_p.D378N|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	378	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATATGTTGGAGACATCTTAAT	0.343000														121			9		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745513	140745513	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140745513A>G	uc003lju.2	+	0	1616	c.1616A>G	c.(1615-1617)aAc>aGc	p.N539S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.N539S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGTGGGAACCCTCCACTT	0.557000														136			12		0	0	0.000422831	0	0
FAM135B	51059	broad.mit.edu	37	8	139164741	139164741	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:139164741C>T	uc003yuy.3	-	12	2148	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	FAM135B_uc003yux.3_Silent_p.K560K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.K221K|FAM135B_uc003yvb.3_Silent_p.K221K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	659										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTGAGAGTCCTTTAGGGAAG	0.493000										HNSCC(54;0.14)				79			5		0	0	0.000602214	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478709	85478709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:85478709G>A	uc002blg.3	+	14	1743	c.1541G>A	c.(1540-1542)gGg>gAg	p.G514E	SLC28A1_uc010bnb.3_Missense_Mutation_p.G514E|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.G514E|SLC28A1_uc010upg.1_Missense_Mutation_p.G514E	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	514					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCCTGGCAGGGGCCGAGGAG	0.612000														70			13		0	0	0.00074312	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107780	26107780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:26107780C>T	uc003ngj.3	-	0	585	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	181					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTCACTGGGCTCTTCTGCTG	0.473000														155			15		0	0	0.000308642	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171797	146171797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:146171797C>T	uc021xfa.1	-	6	1134	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PLSCR2_uc003evw.2_Missense_Mutation_p.D228N|PLSCR2_uc003evv.2_Missense_Mutation_p.D159N	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	159					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ACCTCAAAATCAACACCCGCA	0.313000														75			7		0	0	0.000442599	0	0
ZC3H6	376940	broad.mit.edu	37	2	113080360	113080360	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113080360C>T	uc002thq.1	+	8	1615	c.1221C>T	c.(1219-1221)ccC>ccT	p.P407P		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	407	Pro-rich.						nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGCATTTTCCCTTTTCTGATC	0.413000														196			21		0	0	0.00047179	0	0
MSH4	4438	broad.mit.edu	37	1	76344743	76344743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:76344743G>A	uc001dhd.2	+	11	1722	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	536					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCTGCTCGAGGATTTTTCATC	0.348000								Mismatch excision repair (MMR)						58			8		0	0	0.000157383	0	0
SLIT3	6586	broad.mit.edu	37	5	168176556	168176556	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:168176556C>T	uc010jjg.3	-	18	2478	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G	SLIT3_uc003mab.3_Silent_p.G686G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	686	LRRCT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTAGGGTTCCCACTGACGA	0.552000														89			12		0	0	0.00185496	0	0
LBP	3929	broad.mit.edu	37	20	36997666	36997666	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:36997666C>T	uc002xic.1	+	9	1044	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	337					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAACATGAACCTGGAACTCCA	0.512000														66			5		0	0	0.00116845	0	0
OR10K2	391107	broad.mit.edu	37	1	158390471	158390471	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158390471G>A	uc010pii.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61I(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATGGCAAGGAAGAAGTACA	0.483000														26			14		0	0	0.000422831	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707643	126707643	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:126707643C>T	uc003ejg.3	+	0	207	c.207C>T	c.(205-207)aaC>aaT	p.N69N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	69	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGCAGTGAACCGCATCTATA	0.647000														33			5		0	0	0.00116845	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751618	33751618	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:33751618G>A	uc003jia.1	-	2	688	c.525C>T	c.(523-525)ttC>ttT	p.F175F	ADAMTS12_uc010iuq.1_Silent_p.F175F|ADAMTS12_uc003jib.1_Silent_p.F175F	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	175					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F174V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGGTTCAATGAAAAAGTCTC	0.418000										HNSCC(64;0.19)				83			19		0	0	0.000375601	0	0
PPFIA2	8499	broad.mit.edu	37	12	81746930	81746930	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:81746930C>T	uc001szo.2	-	16	2123	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.Q580Q|PPFIA2_uc021rbh.1_Silent_p.Q555Q|PPFIA2_uc021rbi.1_Silent_p.Q654Q|PPFIA2_uc021rbj.1_Silent_p.Q654Q|PPFIA2_uc021rbk.1_Silent_p.Q636Q|PPFIA2_uc021rbl.1_Silent_p.Q654Q|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.Q221Q|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	580										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCAATTGTTCCTGAAGCATCA	0.368000														65			10		0	0	0.000978159	0	0
PCDH7	5099	broad.mit.edu	37	4	31144345	31144345	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:31144345G>A	uc021xnd.1	+	2	4650	c.3642G>A	c.(3640-3642)gaG>gaA	p.E1214E	PCDH7_uc011bxx.2_Silent_p.E1206E	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATCCTATGAGACCTTCAGTG	0.483000														86			14		0	0	0.00185496	0	0
RBFOX2	23543	broad.mit.edu	37	22	36140261	36140261	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:36140261G>A	uc003aon.4	-	13	1459	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	RBFOX2_uc003aom.4_Silent_p.A356A|RBFOX2_uc003aol.4_Silent_p.A374A|RBFOX2_uc003aoj.4_Silent_p.A378A|RBFOX2_uc003aok.4_Missense_Mutation_p.P362L|RBFOX2_uc003aoh.4_Missense_Mutation_p.P365L|RBFOX2_uc010gwu.3_Missense_Mutation_p.P365L|RBFOX2_uc003aoo.4_Silent_p.A448A|RBFOX2_uc021wok.1_Non-coding_Transcript	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	388					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						TTCAGTAGGGGGCAAATCGGC	0.438000														33			6		0	0	8.12818e-05	0	0
NEB	4703	broad.mit.edu	37	2	152548668	152548668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152548668C>T	uc021vrb.1	-	19	2040	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	NEB_uc002txu.3_Missense_Mutation_p.D671N|NEB_uc021vrc.1_Missense_Mutation_p.D671N|NEB_uc010fnx.3_Missense_Mutation_p.D671N|NEB_uc021vrd.1_Missense_Mutation_p.D671N|NEB_uc010fny.2_Missense_Mutation_p.D225N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	671					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATATAAGTCTTTATATCTA	0.383000														152			15		0	0	0.000308642	0	0
KIF27	55582	broad.mit.edu	37	9	86518863	86518863	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:86518863A>G	uc004ana.3	-	3	714	c.570T>C	c.(568-570)aaT>aaC	p.N190N	KIF27_uc010mpw.3_Silent_p.N190N|KIF27_uc010mpx.3_Silent_p.N190N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	190	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTCTGGCTGCATTCCCCATCT	0.408000														117			24		0	0	0.000720815	0	0
CLCA4	22802	broad.mit.edu	37	1	87040384	87040384	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:87040384C>T	uc009wcs.3	+	9	1673	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	CLCA4_uc009wct.3_Silent_p.F306F|CLCA4_uc009wcu.3_Silent_p.F363F	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	543						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGGAAAATTTCACAGTGGATG	0.408000														31			6		0	0	8.12818e-05	0	0
THSD7A	221981	broad.mit.edu	37	7	11676471	11676471	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:11676471T>A	uc021zzo.1	-	1	560	c.308A>T	c.(307-309)gAg>gTg	p.E103V	THSD7A_uc021zzn.1_Missense_Mutation_p.E103V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	103	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTGGGTCTCTCGGCCTGCTT	0.507000										HNSCC(18;0.044)				68			7		0	0	8.12818e-05	0	0
SUN1	23353	broad.mit.edu	37	7	883119	883119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:883119C>T	uc021zym.1	+	4	640	c.620C>T	c.(619-621)cCc>cTc	p.P207L	SUN1_uc021zyl.1_Missense_Mutation_p.P207L|SUN1_uc010ksa.1_Missense_Mutation_p.P228L|SUN1_uc003sje.1_Missense_Mutation_p.P207L|SUN1_uc011jvq.2_Intron|SUN1_uc003sjf.3_Missense_Mutation_p.P157L|SUN1_uc003sjg.3_Missense_Mutation_p.P18L	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	207					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCCCGGGCCCGTGTCGAGA	0.547000														201			6		0	0	0.00116845	0	0
RGL2	5863	broad.mit.edu	37	6	33260824	33260824	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:33260824C>A	uc003odv.3	-	15	2536	c.1976G>T	c.(1975-1977)gGg>gTg	p.G659V	RGL2_uc003odu.3_Missense_Mutation_p.G219V|RGL2_uc010jur.3_Missense_Mutation_p.G219V|RGL2_uc003odw.3_Missense_Mutation_p.G577V	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	659	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCATCTTCCCCCAACTCCAT	0.562000														339			11		0.00185496	0.00951107	0.00185496	1	0
IQUB	154865	broad.mit.edu	37	7	123152079	123152079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:123152079C>T	uc003vkn.3	-	1	893	c.316G>A	c.(316-318)Gat>Aat	p.D106N	IQUB_uc003vko.3_Missense_Mutation_p.D106N|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.D106N|IQUB_uc003vkq.2_Missense_Mutation_p.D106N	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	106										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAACTATCATCATTTGGCCTC	0.373000														98			10		0	0	0.000673444	0	0
BMPER	168667	broad.mit.edu	37	7	34094912	34094912	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:34094912C>T	uc011kap.2	+	9	1298	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	308	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAAGATTTTCCAGGTATGTC	0.468000														97			17		0	0	0.000958276	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198415087	198415087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:198415087C>T	uc021vum.1	+	7	1071	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.R143W|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.R175W|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.R154W|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.R76W|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.R76W|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.R143W	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		TTTTCATCATCGGCAGATATT	0.313000														32			5		0	0	0.000602214	0	0
IGSF21	84966	broad.mit.edu	37	1	18691827	18691827	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:18691827C>T	uc001bau.2	+	5	1034	c.651C>T	c.(649-651)caC>caT	p.H217H	IGSF21_uc001bav.2_Silent_p.H38H	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	217						extracellular region		p.H217N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCTTCTGCACCGTGACCTGG	0.652000														41			5		0	0	0.000602214	0	0
CHST14	113189	broad.mit.edu	37	15	40764369	40764370	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40764369_40764370CC>TT	uc001zlw.3	+	0	1210_1211	c.957_958CC>TT	c.(955-960)gtccga>gtTTga	p.R320*		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	320					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CACCTCACGTCCGATTTCCAGC	0.634000														49			7		0	0	6.4e-05	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444533	138444533	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138444533G>A	uc003vuf.3	-	6	841	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ATP6V0A4_uc003vug.3_Silent_p.F201F|ATP6V0A4_uc003vuh.3_Silent_p.F201F	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	201					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCATCTCACTGAACTTCAAGT	0.547000														41			8		0	0	0.000157383	0	0
DCLK3	85443	broad.mit.edu	37	3	36779527	36779527	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:36779527C>T	uc003cgi.2	-	1	1115	c.624G>A	c.(622-624)agG>agA	p.R208R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	208						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGTGGGATTCCTGGGGCTGC	0.587000														54			5		0	0	8.12818e-05	0	0
ZNF208	7757	broad.mit.edu	37	19	22170085	22170085	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22170085G>A	uc021urr.1	-	2	308	c.159C>T	c.(157-159)atC>atT	p.I53I	ZNF208_uc002nqo.1_Silent_p.I53I|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGAAAAATGATCAGGTCTG	0.403000														36			8		0	0	0.000442599	0	0
RYR3	6263	broad.mit.edu	37	15	33988430	33988430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:33988430G>A	uc001zhi.3	+	38	5942	c.5872G>A	c.(5872-5874)Gaa>Aaa	p.E1958K	RYR3_uc010bar.3_Missense_Mutation_p.E1958K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1958	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACATTGAAGGAACTCATCTC	0.532000														34			6		0	0	0.000157383	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139421	142139421	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142139421G>A	uc003vyt.3	-	1	249	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTCATAATTGAAGTAAGTCA	0.532000														76			7		0	0	0.000274275	0	0
SUSD1	64420	broad.mit.edu	37	9	114840972	114840972	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:114840972C>T	uc010mui.3	-	11	1640	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.K533K|SUSD1_uc010muj.3_Silent_p.K533K			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	533						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGCAAATTCCTTCTGATACC	0.483000														63			13		0	0	0.000219431	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787002	121787002	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:121787002G>A	uc003ksw.1	+	9	2666	c.2460G>A	c.(2458-2460)gaG>gaA	p.E820E	SNCAIP_uc011cwl.1_Silent_p.E378E|SNCAIP_uc003ksy.1_Silent_p.E454E|SNCAIP_uc003ksx.1_Silent_p.E867E|SNCAIP_uc003ksz.1_Silent_p.E454E|SNCAIP_uc010jcu.2_Silent_p.E416E|SNCAIP_uc011cwm.1_Silent_p.E454E|SNCAIP_uc003kta.1_Silent_p.E452E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.E514E|SNCAIP_uc010jcx.1_Silent_p.E760E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.E336E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	820					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTTTGAGGAGCCTGTGGTGC	0.502000														61			7		0	0	0.000157383	0	0
CSMD2	114784	broad.mit.edu	37	1	34180320	34180320	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:34180320C>T	uc001bxm.1	-	20	3450	c.3273G>A	c.(3271-3273)aaG>aaA	p.K1091K	CSMD2_uc001bxn.1_Silent_p.K1051K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1051	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.L1091M(1)|p.K1051N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGCAAGCCCTTCCGGATGC	0.652000														34			4		0	0	0.00024832	0	0
DCHS2	54798	broad.mit.edu	37	4	155158225	155158225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:155158225G>A	uc003inw.2	-	24	6214	c.6214C>T	c.(6214-6216)Cct>Tct	p.P2072S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2072	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCAGGTCAGGATTTCCACCA	0.373000														45			5		0	0	0.000602214	0	0
PLCD1	5333	broad.mit.edu	37	3	38061696	38061696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38061696G>A	uc003chm.3	-	1	599	c.245C>T	c.(244-246)aCc>aTc	p.T82I	PLCD1_uc003chn.3_Missense_Mutation_p.T61I	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	61	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGACTCCGGGGTCCGCATGAC	0.577000														53			9		0	0	0.00136819	0	0
ZNF812	729648	broad.mit.edu	37	19	9801922	9801922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9801922C>T	uc021uop.1	-	5	903	c.257G>A	c.(256-258)gGa>gAa	p.G86E	ZNF812_uc010xkx.2_5'UTR	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCAGAGTTTCCATCCACTGT	0.378000														49			5		0	0	0.00116845	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095092	16095092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16095092C>T	uc001axd.1	+	5	951	c.508C>T	c.(508-510)Ccg>Tcg	p.P170S	FBLIM1_uc001axe.1_Missense_Mutation_p.P170S|FBLIM1_uc001axg.1_Missense_Mutation_p.P170S|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	170	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCACCTCCCCCGGCAGAACC	0.632000														34			6		0	0	8.12818e-05	0	0
COL27A1	85301	broad.mit.edu	37	9	116931580	116931580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:116931580C>T	uc011lxl.2	+	2	1745	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P432L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	582	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGCCCCAGCCCAGTCAGCAG	0.667000														46			10		0	0	0.000978159	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226063	79226063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:79226063G>A	uc002jzz.1	-	12	2252	c.1877C>T	c.(1876-1878)gCc>gTc	p.A626V	SLC38A10_uc002jzy.1_Missense_Mutation_p.A544V|SLC38A10_uc002kab.3_Missense_Mutation_p.A626V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	626					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCCCCTTGGCCTTTTCCCC	0.706000														19			9		0	0	0.000274275	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929986	54929986	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:54929986C>T	uc001sgc.4	+	27	3109	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	NCKAP1L_uc010sox.2_Silent_p.L552L|NCKAP1L_uc010soy.2_Silent_p.L960L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1010					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.L1010L(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCTCCCACTCCTTGCCACTG	0.478000														41			5		0	0	0.00116845	0	0
C19orf55	148137	broad.mit.edu	37	19	36255943	36255943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36255943C>T	uc021usz.1	+	6	708	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	212	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAAAGCCTCCATCTCCTCC	0.632000														106			17		0	0	0.00121646	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112601	148112601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:148112601G>A	uc003weu.2	+	23	4405	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	CNTNAP2_uc003wev.2_Missense_Mutation_p.E74K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1297					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCATACCAACGAAGCAAAGGG	0.552000										HNSCC(39;0.1)				58			13		0	0	0.00185496	0	0
BMP7	655	broad.mit.edu	37	20	55758884	55758884	+	Silent	SNP	C	T	T	rs147083949		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:55758884C>T	uc010gip.1	-	3	1381	c.852G>A	c.(850-852)acG>acA	p.T284T	BMP7_uc002xyc.3_Silent_p.T284T	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	284					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.A283G(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGTGGACCTCCGTGGCCTTGA	0.642000														32			6		0	0	8.12818e-05	0	0
FBLN1	2192	broad.mit.edu	37	22	45937144	45937144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:45937144C>T	uc010gzz.3	+	9	1219	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	FBLN1_uc003bgg.1_Missense_Mutation_p.P320S|FBLN1_uc003bgh.3_Missense_Mutation_p.P320S|FBLN1_uc003bgi.1_Missense_Mutation_p.P320S|FBLN1_uc003bgj.1_Missense_Mutation_p.P320S	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	320	EGF-like 5; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCCCGTGCCCTATCGGGCA	0.537000														66			8		0	0	0.000673444	0	0
OR6A2	8590	broad.mit.edu	37	11	6816382	6816382	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6816382G>A	uc001mes.1	-	0	758	c.558C>T	c.(556-558)gtC>gtT	p.V186V		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D185Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAATGGAGAGACATCACAGA	0.458000														85			7		0	0	0.000157383	0	0
CWC27	10283	broad.mit.edu	37	5	64084836	64084836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:64084836C>T	uc003jtn.1	+	6	877	c.658C>T	c.(658-660)Cga>Tga	p.R220*	CWC27_uc003jtl.3_Nonsense_Mutation_p.R220*|CWC27_uc003jtm.3_Nonsense_Mutation_p.R220*|CWC27_uc010iwt.1_Nonsense_Mutation_p.R220*	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	220					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GGAAGTAAATCGAGTTAGTCA	0.338000														40			6		0	0	0.000157383	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955869	63955869	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:63955869G>A	uc001dbb.2	-	3	326	c.186C>T	c.(184-186)atC>atT	p.I62I	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Silent_p.I23I|ITGB3BP_uc009wak.1_Silent_p.I45I	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	23					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TCTTCCTTGTGATTTTTGAAG	0.299000														61			7		0	0	0.000442599	0	0
AK090553	0	broad.mit.edu	37	19	44503321	44503321	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44503321C>T	uc002oya.1	-	1		c.277G>A								Homo sapiens cDNA FLJ33234 fis, clone ASTRO2002064.																		GAAAGCAGTTCCTTTTGAGTT	0.348000														26			9		0	0	0.000274275	0	0
C7orf31	136895	broad.mit.edu	37	7	25181932	25181932	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:25181932G>A	uc003sxn.1	-	8	1440	c.879C>T	c.(877-879)ccC>ccT	p.P293P		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	293										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CCAGTTCAAGGGGGTCCATGG	0.408000														50			12		0	0	0.000219431	0	0
PKP2	5318	broad.mit.edu	37	12	33031376	33031376	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:33031376C>T	uc001rlj.4	-	2	553	c.438G>A	c.(436-438)agG>agA	p.R146R	PKP2_uc001rlk.4_Silent_p.R146R|PKP2_uc010skj.2_Silent_p.R146R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	146					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTCCAGTCTCCTCAGAGGAT	0.577000														159			35		0	0	0.000953801	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124188	12124188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:12124188C>T	uc003nac.3	+	3	4339	c.4160C>T	c.(4159-4161)tCa>tTa	p.S1387L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1387					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGAAGCAAATCATTCGATTGT	0.498000														94			11		0	0	0.000978159	0	0
DSC1	1823	broad.mit.edu	37	18	28734748	28734748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:28734748C>T	uc002kwn.3	-	4	878	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	DSC1_uc002kwm.3_Missense_Mutation_p.E206K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	206	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAAACTGTTCATATTTCTCA	0.328000														27			7		0	0	0.000274275	0	0
TLN2	83660	broad.mit.edu	37	15	63092632	63092632	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:63092632G>A	uc002alb.4	+	45	6300	c.6300G>A	c.(6298-6300)aaG>aaA	p.K2100K	TLN2_uc002alc.4_Silent_p.K493K	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2100					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGCTACCAAGGGAGCTGCCA	0.557000														65			13		0	0	0.00185496	0	0
GPR112	139378	broad.mit.edu	37	X	135429117	135429117	+	Silent	SNP	G	A	A	rs148424660	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:135429117G>A	uc004ezu.1	+	5	3543	c.3252G>A	c.(3250-3252)ttG>ttA	p.L1084L	GPR112_uc010nsb.1_Silent_p.L879L|GPR112_uc010nsc.1_Silent_p.L851L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1084					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGGAGACTTGATTCGTACCA	0.458000														42			16		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	8999484	8999484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8999484C>T	uc002mkp.3	-	55	40895	c.40691G>A	c.(40690-40692)aGa>aAa	p.R13564K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R381K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13566	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCTGCTCTCTGTCCAGTCC	0.592000														60			10		0	0	0.000442599	0	0
BCAN	63827	broad.mit.edu	37	1	156618425	156618425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156618425G>A	uc001fpp.3	+	5	1171	c.835G>A	c.(835-837)Gag>Aag	p.E279K	BCAN_uc001fpo.3_Missense_Mutation_p.E279K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	279	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.Q278Q(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACTGCCAGGAGCGGGGTGC	0.617000														46			17		0	0	0.00152264	0	0
TIAM1	7074	broad.mit.edu	37	21	32624237	32624237	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:32624237T>C	uc002yow.1	-	5	1704	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G	TIAM1_uc011adk.1_Missense_Mutation_p.E411G|TIAM1_uc011adl.1_Missense_Mutation_p.E411G|TIAM1_uc002yox.1_Missense_Mutation_p.E19G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGCTCTGCTCATCGCTGTG	0.697000														49			4		0	0	0.000602214	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020592	46020592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:46020592C>T	uc002zfn.4	+	0	96	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	24						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTTCCTGGTTCCTGTGACTCT	0.672000														27			4		0	0	0.000602214	0	0
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:111397722C>T	uc003iab.4	+	0	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	51					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACGGCGGGCCGGGCACTGCG	0.647000														82			12		0	0	0.000308642	0	0
CLDN10	9071	broad.mit.edu	37	13	96086185	96086185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:96086185G>A	uc001vmg.2	+	0	333	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	CLDN10_uc010tii.1_Missense_Mutation_p.R33Q	NM_182848	NP_878268	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant a, mRNA.	35					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R33Q(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTGACCACGCGAGCCTCCTCG	0.562000														40			10		0	0	0.000978159	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515987	26515987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:26515987C>T	uc001bln.4	+	20	2169	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	CNKSR1_uc001blm.4_Missense_Mutation_p.S697F|CNKSR1_uc009vsd.3_Missense_Mutation_p.S439F|CNKSR1_uc009vse.3_Missense_Mutation_p.S439F|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	704					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.T703T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGCACTCCCATCTCTGC	0.632000														88			10		0	0	0.00136819	0	0
ITGB8	3696	broad.mit.edu	37	7	20420329	20420329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:20420329C>T	uc003suu.3	+	4	1381	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	ITGB8_uc011jyh.2_Missense_Mutation_p.H91Y|ITGB8_uc003sut.3_Missense_Mutation_p.H226Y	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	226	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGGATACATCCATGTGCTGTC	0.408000														95			21		0	0	0.000720815	0	0
IGSF10	285313	broad.mit.edu	37	3	151171298	151171298	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151171298G>T	uc011bod.2	-	2	589	c.589C>A	c.(589-591)Ctg>Atg	p.L197M		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	197					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGGAGGTCAGGAAGTTATCA	0.433000														71			11		0.00010058	0.000520229	0.00136819	1	0
ASMT	438	broad.mit.edu	37	X	1761772	1761772	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:1761772G>A	uc004cqd.3	+	9	1203	c.987G>A	c.(985-987)ctG>ctA	p.L329L	ASMT_uc010ncy.3_Silent_p.L329L|ASMT_uc004cqe.3_Silent_p.L254L	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	301					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTACTCTCTGAACATGCTTG	0.542000														103			8		0	0	0.000157383	0	0
MYCBP2	23077	broad.mit.edu	37	13	77745767	77745767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:77745767C>T	uc021rks.1	-	37	5921	c.5654G>A	c.(5653-5655)aGt>aAt	p.S1885N	MYCBP2_uc010aev.3_Missense_Mutation_p.S1251N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAAATTCACTCCTGTAGCA	0.358000														38			4		0	0	0.00024832	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248954	49248954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:49248954C>T	uc002pkj.3	-	1	711	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	55					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTACCCTTTCCATCATGGCT	0.547000														79			11		0	0	0.00185496	0	0
LIMK2	3985	broad.mit.edu	37	22	31658612	31658612	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:31658612C>G	uc003akh.3	+	6	834	c.689C>G	c.(688-690)aCa>aGa	p.T230R	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.T209R|LIMK2_uc003akk.3_Missense_Mutation_p.T209R|LIMK2_uc011aln.2_Missense_Mutation_p.T147R	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	230	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACGAGCCAGACACTTCAGCTG	0.612000														82			5		0	0	8.12818e-05	0	0
C7orf58	79974	broad.mit.edu	37	7	120935617	120935617	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:120935617C>T	uc003vjq.4	+	22	3439	c.2992C>T	c.(2992-2994)Cga>Tga	p.R998*		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	998						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AACAAATTTTCGATCGCCATA	0.358000														59			27		0	0	0.000720815	0	0
CCDC68	80323	broad.mit.edu	37	18	52609964	52609964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:52609964G>A	uc002lfs.3	-	2	231	c.59C>T	c.(58-60)tCt>tTt	p.S20F	CCDC68_uc002lft.3_Missense_Mutation_p.S20F	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	20										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATACAAGGCAGAATTATCTTC	0.373000														49			5		0	0	0.000602214	0	0
ZNF211	10520	broad.mit.edu	37	19	58153435	58153435	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58153435C>T	uc002qpr.2	+	5	2076	c.1773C>T	c.(1771-1773)caC>caT	p.H591H	ZNF211_uc010yhb.1_Silent_p.H531H|ZNF211_uc002qpp.2_Silent_p.H540H|ZNF211_uc002qpq.2_Silent_p.H527H|ZNF211_uc002qpt.2_Silent_p.H539H|ZNF211_uc010yhc.1_Silent_p.H539H|ZNF211_uc010yhe.1_Silent_p.H518H|ZNF211_uc010yhd.1_Silent_p.H466H	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCAACACCGCAGAGTTC	0.453000														52			12		0	0	0.00136819	0	0
RANBP3L	202151	broad.mit.edu	37	5	36269494	36269494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:36269494C>T	uc011cow.2	-	3	759	c.266G>A	c.(265-267)gGa>gAa	p.G89E	RANBP3L_uc003jkh.3_Missense_Mutation_p.G89E	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	89					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATACATACCTCCCTGGGACTG	0.363000														119			13		0	0	0.000422831	0	0
TMPPE	643853	broad.mit.edu	37	3	33134462	33134462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:33134462G>A	uc003cfk.2	-	1	1438	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.P272L|TMPPE_uc021wux.1_Missense_Mutation_p.P409L	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	409						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AGCAAAGAAGGGATTCAGGAG	0.562000														45			5		0	0	0.000602214	0	0
CCR7	1236	broad.mit.edu	37	17	38711757	38711757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:38711757C>T	uc002huw.3	-	2	449	c.374G>A	c.(373-375)gGt>gAt	p.G125D		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	125					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAAGTGGACACCGAAGACCCA	0.547000														30			12		0	0	0.000978159	0	0
MED23	9439	broad.mit.edu	37	6	131944520	131944520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:131944520G>A	uc003qcs.1	-	4	541	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	MED23_uc003qcq.3_Missense_Mutation_p.R123W|MED23_uc003qct.1_Missense_Mutation_p.R123W|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	123					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATTATTTTCCGAACCAGTTTA	0.343000														85			8		0	0	0.000978159	0	0
SUZ12	23512	broad.mit.edu	37	17	30302528	30302528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:30302528C>T	uc002hgs.2	+	6	841	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	SUZ12_uc002hgt.2_Missense_Mutation_p.P184S	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	207					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGGCAAGTTCCCACAGGTAA	0.338000			T	JAZF1	endometrial stromal tumours									52			9		0	0	0.000978159	0	0
VAMP1	6843	broad.mit.edu	37	12	6575408	6575409	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:6575408_6575409GG>TT	uc001qok.3	-	1	257_258	c.111_112CC>AA	c.(109-114)acccag>acAAag	p.Q38K	TAPBPL_uc001qoi.1_Non-coding_Transcript|VAMP1_uc001qoj.3_Missense_Mutation_p.Q38K|VAMP1_uc001qol.3_Missense_Mutation_p.Q38K	NM_014231	NP_055046	P23763	VAMP1_HUMAN	Homo sapiens vesicle-associated membrane protein 1 (synaptobrevin 1) (VAMP1), transcript variant 1, mRNA.	38	v-SNARE coiled-coil homology.				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	ACTTGTGCCTGGGTTTGCTGTA	0.505000														206			9		0	0	6.4e-05	0	0
FATE1	89885	broad.mit.edu	37	X	150885784	150885784	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:150885784G>A	uc004fex.3	+	1	231	c.147G>A	c.(145-147)caG>caA	p.Q49Q		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	49						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCCCAGAAGAAGCAGA	0.517000														54			24		0	0	0.000375601	0	0
BIRC2	329	broad.mit.edu	37	11	102221006	102221006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:102221006C>T	uc001pgy.3	+	1	1820	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	BIRC2_uc010ruq.2_Missense_Mutation_p.P92S|BIRC2_uc010rur.2_Missense_Mutation_p.P141S	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	141					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTCATTATCTCCCACCTTGGA	0.428000														88			28		0	0	0.00127121	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431005	37431005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:37431005G>A	uc021ppc.1	+	6	1111	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E338K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R337M(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACACCTAGGGAAATTATGAG	0.418000														73			12		0	0	0.00136819	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779006	31779006	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31779006C>T	uc003nxh.3	-	1	927	c.744G>A	c.(742-744)aaG>aaA	p.K248K	HSPA1L_uc010jte.3_Silent_p.K248K|HSPA1L_uc021yuz.1_Silent_p.K248K	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	248					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGTTTCCTCTTGAACTCCT	0.582000														293			21		0	0	0.000375601	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132487	91132487	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:91132487C>T	uc004efk.2	+	1	2093	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	PCDH11X_uc004efl.2_Silent_p.F416F|PCDH11X_uc010nmv.2_Silent_p.F416F|PCDH11X_uc004efm.2_Silent_p.F416F|PCDH11X_uc004efn.2_Silent_p.F416F|PCDH11X_uc004efo.2_Silent_p.F416F|PCDH11X_uc004efh.2_Silent_p.F416F|PCDH11X_uc004efj.1_Silent_p.F416F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	416	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTAATCAGTTCCTCCTGGAGA	0.438000														36			5		0	0	0.00116845	0	0
ARMC8	25852	broad.mit.edu	37	3	137963996	137963996	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:137963996G>T	uc003esa.1	+	12	1430	c.1063G>T	c.(1063-1065)Gga>Tga	p.G355*	ARMC8_uc003erw.3_Nonsense_Mutation_p.G355*|ARMC8_uc003erx.3_Nonsense_Mutation_p.G355*|ARMC8_uc003ery.3_Nonsense_Mutation_p.G327*|ARMC8_uc011bmf.1_Nonsense_Mutation_p.G338*|ARMC8_uc011bmg.1_Nonsense_Mutation_p.G302*|ARMC8_uc011bmh.1_Nonsense_Mutation_p.G296*|ARMC8_uc003esb.1_Nonsense_Mutation_p.G327*|ARMC8_uc003esc.1_Nonsense_Mutation_p.G127*	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	369							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCCTCTCTTGGAGCAAATGA	0.507000														318			9		0.00136819	0.00701815	0.00136819	1	0
SLC2A6	11182	broad.mit.edu	37	9	136337165	136337165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:136337165C>T	uc004cee.3	-	9	1597	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	SLC2A6_uc004cef.3_Missense_Mutation_p.G439E|SLC2A6_uc004ceg.3_Missense_Mutation_p.G478E	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	501						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGACCTTCTCCCCGTGCGGAA	0.637000														32			7		0	0	0.000274275	0	0
ABCB4	5244	broad.mit.edu	37	7	87101970	87101970	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:87101970C>T	uc003uiv.1	-	2	178	c.102G>A	c.(100-102)acG>acA	p.T34T	ABCB4_uc003uiw.1_Silent_p.T34T|ABCB4_uc003uix.1_Silent_p.T34T|ABCB4_uc003uiy.3_Silent_p.T34T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	34					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCACTGTCTTCGTTTTTTTCC	0.249000														137			21		0	0	0.000295444	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451159	110451159	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:110451159C>T	uc001pkz.1	-	15	2796	c.2511G>A	c.(2509-2511)aaG>aaA	p.K837K	ARHGAP20_uc001pky.1_Silent_p.K814K|ARHGAP20_uc009yyb.1_Silent_p.K801K|ARHGAP20_uc001pla.1_Silent_p.K801K|ARHGAP20_uc001plb.2_Silent_p.K380K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	837					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTGGACCCTTGAGGGCAT	0.473000														82			10		0	0	0.000673444	0	0
FLG	2312	broad.mit.edu	37	1	152285743	152285743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152285743C>T	uc001ezu.1	-	2	1655	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	540	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGTGTCCAGACCTATT	0.567000									Ichthyosis					148			44		0	0	0.000589545	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	C	C	rs121913377		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:140453134T>C	uc003vwc.4	-	14	1862	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					55			16		0	0	0.00152264	0	0
WDR65	149465	broad.mit.edu	37	1	43663257	43663257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:43663257C>T	uc021omk.1	+	6	1302	c.1156C>T	c.(1156-1158)Cca>Tca	p.P386S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.P375S|WDR65_uc001ciq.2_Missense_Mutation_p.P386S|WDR65_uc001cip.2_Missense_Mutation_p.P386S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	386										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGATGTATCCATTGCACTC	0.493000														81			10		0	0	0.000673444	0	0
ITGB3	3690	broad.mit.edu	37	17	45362045	45362045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:45362045G>A	uc002ilj.3	+	3	618	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	ITGB3_uc002ili.1_Missense_Mutation_p.E200K|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	200	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGAGGCCCTCGAAAACCCCTG	0.542000														88			22		0	0	0.000878237	0	0
OR2T11	127077	broad.mit.edu	37	1	248789896	248789896	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248789896G>A	uc001ier.1	-	0	534	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAACTGCTGGGATCTCACAGA	0.498000														29			12		0	0	0.00185496	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147135	55147135	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55147135C>T	uc003pcl.3	+	6	1533	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	406					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCCGGAAGTCCTTGACCACTC	0.493000														19			5		0	0	0.000602214	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364100	43364100	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:43364100G>A	uc002iiw.1	-	5	956	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	284					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.L284L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGTTTGCCCAGGAAGGACTCC	0.612000														12			4		0	0	0.00024832	0	0
PAM	5066	broad.mit.edu	37	5	102260734	102260734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:102260734C>T	uc003knt.3	+	4	803	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PAM_uc003knw.3_Missense_Mutation_p.R144W|PAM_uc003kns.3_Missense_Mutation_p.R144W|PAM_uc003knu.3_Missense_Mutation_p.R144W|PAM_uc011cuz.2_Missense_Mutation_p.R47W|PAM_uc003knv.3_Missense_Mutation_p.R144W	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	144	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TCCCCCTACCCGGCTCCCCAA	0.408000														87			29		0	0	0.000692331	0	0
FAM135B	51059	broad.mit.edu	37	8	139164725	139164725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:139164725C>T	uc003yuy.3	-	12	2164	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	FAM135B_uc003yux.3_Missense_Mutation_p.E566K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E227K|FAM135B_uc003yvb.3_Missense_Mutation_p.E227K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	665										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTCCTGCTCTTCTGTGTGA	0.507000										HNSCC(54;0.14)				72			20		0	0	0.00047179	0	0
NCAM2	4685	broad.mit.edu	37	21	22906900	22906900	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:22906900G>A	uc002yld.2	+	16	2574	c.2325G>A	c.(2323-2325)gaG>gaA	p.E775E	NCAM2_uc011acb.2_Silent_p.E633E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	775					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGAGAACAGAGGATGAAAGAG	0.403000														32			4		0	0	0.00024832	0	0
UBA6	55236	broad.mit.edu	37	4	68500023	68500023	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:68500023G>A	uc003hdg.4	-	21	2002	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	650					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAGGTTTGTGGGAAAAGGAAC	0.279000														76			12		0	0	0.00136819	0	0
TRPM2	7226	broad.mit.edu	37	21	45795835	45795835	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:45795835G>A	uc010gpt.1	+	5	991	c.891G>A	c.(889-891)gtG>gtA	p.V297V	TRPM2_uc002zet.1_Silent_p.V297V|TRPM2_uc002zeu.1_Silent_p.V297V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.V297V|TRPM2_uc002zex.1_Silent_p.V83V	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	297						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.V297M(2)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGTACGGGGTGGAGATTCCTC	0.572000														50			5		0	0	0.000274275	0	0
SBF1	6305	broad.mit.edu	37	22	50900413	50900413	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:50900413G>A	uc003blh.3	-	19	2727	c.2532C>T	c.(2530-2532)acC>acT	p.T844T	SBF1_uc011arx.2_Silent_p.T508T|SBF1_uc003bli.2_Silent_p.T845T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	844					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGTCGCTGGTGACCCCAC	0.612000														61			13		0	0	0.000566183	0	0
DOK4	55715	broad.mit.edu	37	16	57507902	57507902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57507902C>T	uc010cdb.3	-	5	909	c.649G>A	c.(649-651)Gag>Aag	p.E217K	DOK4_uc002elv.4_Missense_Mutation_p.E217K	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	217	IRS-type PTB.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TAAATCTGCTCCCCCTCTTGT	0.597000														36			5		0	0	0.000602214	0	0
C3	718	broad.mit.edu	37	19	6694599	6694599	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:6694599C>T	uc002mfm.3	-	23	3059	c.2997G>A	c.(2995-2997)cgG>cgA	p.R999R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	999					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTGCTTCAGCCGTTCCGCGT	0.622000														36			6		0	0	8.12818e-05	0	0
NRAP	4892	broad.mit.edu	37	10	115413812	115413812	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:115413812T>C	uc001lal.3	-	4	597	c.433A>G	c.(433-435)Agg>Ggg	p.R145G	NRAP_uc001laj.3_Missense_Mutation_p.R145G|NRAP_uc001lak.3_Missense_Mutation_p.R145G	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	145						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCAACCATCCTTACAATTTCG	0.458000														164			22		0	0	0.000878237	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:95081348G>A	uc001ydp.3	+	1	729	c.570G>A	c.(568-570)ggG>ggA	p.G190G	SERPINA3_uc001ydo.4_Silent_p.G215G|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.G190G|SERPINA3_uc001yds.3_Silent_p.G190G	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	190					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACTAGGGGGAAAATCACAG	0.493000														117			12		0	0	0.00185496	0	0
OR51V1	283111	broad.mit.edu	37	11	5221210	5221210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5221210C>T	uc010qyz.2	-	0	721	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTCTCTTCCTGAGAGGCA	0.453000														63			6		0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	2910116	2910116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:2910116C>T	uc022aqr.1	-	49	7918	c.7528G>A	c.(7528-7530)Gag>Aag	p.E2510K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1840K|CSMD1_uc010lrg.3_Missense_Mutation_p.E579K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2511	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGAACTCGTTCCCGGTA	0.438000														16			6		0	0	8.12818e-05	0	0
SLC4A5	57835	broad.mit.edu	37	2	74492235	74492235	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74492235G>A	uc002sko.1	-	3	560	c.558C>T	c.(556-558)atC>atT	p.I186I	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.I186I|SLC4A5_uc010ffc.1_Silent_p.I186I|SLC4A5_uc002skp.1_Silent_p.I122I|SLC4A5_uc002sks.1_Silent_p.I186I	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	186						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTCACCTATGATCTGTGGTA	0.607000														42			9		0	0	0.000442599	0	0
THBS1	7057	broad.mit.edu	37	15	39882122	39882122	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:39882122C>T	uc001zkh.3	+	12	2222	c.2043C>T	c.(2041-2043)ggC>ggT	p.G681G	THBS1_uc010bbi.3_Silent_p.G153G	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	681	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAAGCCTGGCTACGCTGGCA	0.592000														9			4		0	0	0.00024832	0	0
DPP4	1803	broad.mit.edu	37	2	162851471	162851471	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:162851471C>T	uc002ubz.3	-	25	2760	c.2199_splice	c.e25+1	p.M733_splice	DPP4_uc010fpb.3_Splice_Site_p.M409_splice	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	733					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTTTCTATACCATTGCCTGGA	0.468000														31			6		0	0	0.00116845	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702994	27702994	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:27702994C>T	uc001itu.2	-	0	304	c.186G>A	c.(184-186)tcG>tcA	p.S62S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	62					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCCTGCTCCGACGCCAGGG	0.697000														37			14		0	0	0.000219431	0	0
NBEA	26960	broad.mit.edu	37	13	36167502	36167502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:36167502G>A	uc021rid.1	+	46	7748	c.7214G>A	c.(7213-7215)gGa>gAa	p.G2405E	NBEA_uc021ric.1_Missense_Mutation_p.G2402E|NBEA_uc010abi.3_Missense_Mutation_p.G1061E|NBEA_uc010tee.1_Missense_Mutation_p.G198E|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G198E|NBEA_uc010teg.1_Missense_Mutation_p.G198E|NBEA_uc001uvd.3_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2405	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.D2404Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAAATGATGGAAAATTTGAT	0.398000														63			5		0	0	0.00116845	0	0
SEC24C	9632	broad.mit.edu	37	10	75519813	75519813	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:75519813C>T	uc001juw.3	+	5	699	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Silent_p.F31F|SEC24C_uc001jux.3_Silent_p.F173F|SEC24C_uc010qko.2_Silent_p.F31F|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	173					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGGAAGTTTCCCTAACTCTG	0.552000														97			6		0	0	8.12818e-05	0	0
NALCN	259232	broad.mit.edu	37	13	101726881	101726881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:101726881C>T	uc001vox.1	-	35	4276	c.4087G>A	c.(4087-4089)Ggg>Agg	p.G1363R		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1363						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATATTCTCCCCATATTTCACA	0.323000														93			12		0	0	0.000978159	0	0
MCM2	4171	broad.mit.edu	37	3	127325113	127325113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:127325113C>T	uc003ejp.3	+	4	883	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	MCM2_uc011bkm.2_Missense_Mutation_p.R146C|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.R160C	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	276					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAAGTACGACCGCATCACCAA	0.632000														117			14		0	0	0.000422831	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625498	140625498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140625498C>T	uc003lje.3	+	0	352	c.352C>T	c.(352-354)Cga>Tga	p.R118*		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	118	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGTATTTCGAGCTGAACT	0.433000														69			12		0	0	0.000219431	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264186	140264186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140264186C>T	uc003lif.2	+	0	2333	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P778L|PCDHAC2_uc003lid.3_Missense_Mutation_p.P778L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	815					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTTCCTCCTTGTCTGGGT	0.537000														37			5		0	0	0.00116845	0	0
XRCC1	7515	broad.mit.edu	37	19	44065134	44065134	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44065134C>T	uc002owt.2	-	2	303	c.183G>A	c.(181-183)ggG>ggA	p.G61G	XRCC1_uc010xwp.1_Silent_p.G30G	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	61					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGCCATCATTCCCAATGTCCA	0.577000								Other BER factors						79			9		0	0	0.000673444	0	0
NMNAT3	349565	broad.mit.edu	37	3	139292486	139292486	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:139292486C>T	uc003etj.3	-	2	370	c.330G>A	c.(328-330)caG>caA	p.Q110Q	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.Q73Q|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	110					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGCCTTCCATCTGGGGTGGAG	0.542000														38			9		0	0	0.000978159	0	0
GREB1	9687	broad.mit.edu	37	2	11706683	11706683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:11706683C>T	uc002rbk.1	+	3	655	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	GREB1_uc002rbl.3_Missense_Mutation_p.L119F|GREB1_uc002rbm.3_Missense_Mutation_p.L9F|GREB1_uc002rbn.1_Missense_Mutation_p.L119F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	119						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGCTTTCTCCTCGTGGGGGT	0.602000														41			9		0	0	0.000442599	0	0
TRIM15	89870	broad.mit.edu	37	6	30131762	30131762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:30131762C>T	uc010jrx.3	+	0	780	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	101					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGCCGAGTTCCTCTGTGTGTT	0.612000														44			4		0	0	0.00024832	0	0
VRK3	51231	broad.mit.edu	37	19	50498464	50498464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:50498464G>A	uc002prg.2	-	7	846	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	VRK3_uc002prh.1_Missense_Mutation_p.H250Y|VRK3_uc002pri.1_Missense_Mutation_p.H200Y|VRK3_uc010ens.2_Missense_Mutation_p.H250Y|VRK3_uc010ybl.1_Missense_Mutation_p.H200Y|VRK3_uc010ybm.1_Intron|VRK3_uc002prk.2_Missense_Mutation_p.H250Y|VRK3_uc010ent.2_Missense_Mutation_p.H6Y|VRK3_uc002prl.3_Missense_Mutation_p.H250Y|VRK3_uc010ybn.1_Silent_p.F227F	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	250	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGTCCTGGTGAACACCGAAA	0.567000														41			11		0	0	0.00185496	0	0
SAMD9	54809	broad.mit.edu	37	7	92731648	92731648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92731648G>A	uc003umf.3	-	2	4033	c.3763C>T	c.(3763-3765)Cct>Tct	p.P1255S	SAMD9_uc003umg.3_Missense_Mutation_p.P1255S|SAMD9_uc022ahg.1_Missense_Mutation_p.P1255S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1255						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAATAAGGAATATAGTTT	0.289000														131			9		0	0	0.000442599	0	0
MAP1A	4130	broad.mit.edu	37	15	43820287	43820287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43820287C>T	uc001zrt.3	+	3	7083	c.6616C>T	c.(6616-6618)Cca>Tca	p.P2206S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2206						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTCTGGCTCCAGGACCCCC	0.642000														73			14		0	0	0.00185496	0	0
ITCH	83737	broad.mit.edu	37	20	33026303	33026303	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33026303C>T	uc010geu.1	+	8	861	c.669C>T	c.(667-669)gaC>gaT	p.D223D	ITCH_uc002xak.2_Silent_p.D182D|ITCH_uc010zuj.1_Silent_p.D72D	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	223					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GATCAGATGACCCTGAAGATG	0.423000														82			10		0	0	0.00185496	0	0
C10orf27	219793	broad.mit.edu	37	10	72541687	72541687	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:72541687G>A	uc010qjm.1	-	3	537	c.147C>T	c.(145-147)ttC>ttT	p.F49F	C10orf27_uc001jrj.1_Silent_p.F49F|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.F49F|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Silent_p.F38F|C10orf27_uc009xqj.1_Silent_p.F38F|C10orf27_uc010qjp.1_Silent_p.F38F	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	49					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						GGATCCGCTCGAAATCCACAA	0.602000														57			6		0	0	0.000157383	0	0
EVC	2121	broad.mit.edu	37	4	5812151	5812151	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:5812151C>T	uc003gil.1	+	19	3052	c.2868C>T	c.(2866-2868)tcC>tcT	p.S956S	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	956					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTTGCCTCCGGGGACCAGA	0.582000														17			5		0	0	8.12818e-05	0	0
CCDC54	84692	broad.mit.edu	37	3	107097204	107097204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:107097204G>A	uc003dwi.1	+	0	1017	c.770G>A	c.(769-771)gGa>gAa	p.G257E		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	257										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTTCATGGAGGAAAATGGACA	0.403000														89			14		0	0	0.000422831	0	0
ITGA8	8516	broad.mit.edu	37	10	15649739	15649739	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:15649739G>A	uc001ioc.1	-	16	1701	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	ITGA8_uc010qcb.1_Silent_p.V552V	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	567			V -> L.		cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAAGAGGGAAGACGCGATGAG	0.458000														105			8		0	0	0.000274275	0	0
TPST2	8459	broad.mit.edu	37	22	26937078	26937078	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26937078G>A	uc003acw.3	-	2	860	c.519C>T	c.(517-519)ttC>ttT	p.F173F	TPST2_uc003acx.3_Silent_p.F173F|TPST2_uc011akf.1_Silent_p.F173F	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	173					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGAGTTGGGGAACAGGCGCG	0.612000														37			7		0	0	0.000442599	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364834	185364834	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:185364834G>A	uc003fpo.3	-	14	1765	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	IGF2BP2_uc010hyi.3_Silent_p.I505I|IGF2BP2_uc010hyj.3_Silent_p.I499I|IGF2BP2_uc010hyk.3_Silent_p.I426I|IGF2BP2_uc010hyl.3_Silent_p.I456I|IGF2BP2_uc003fpp.3_Silent_p.I519I|IGF2BP2_uc003fpq.3_Silent_p.I567I	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	562	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGAAGTGCCCGATAATTCTGA	0.507000														272			36		0	0	0.00170553	0	0
OR8D4	338662	broad.mit.edu	37	11	123777516	123777516	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123777516C>T	uc010saa.2	+	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACGTGGCCATCTGCAGCCCAC	0.502000														75			9		0	0	0.000274275	0	0
PBX3	5090	broad.mit.edu	37	9	128722988	128722988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:128722988G>A	uc004bqb.3	+	5	985	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	PBX3_uc004bqc.3_Missense_Mutation_p.R109Q|PBX3_uc004bqd.3_Missense_Mutation_p.R109Q|PBX3_uc011lzw.2_Missense_Mutation_p.R215Q|PBX3_uc011lzx.2_Missense_Mutation_p.R201Q|PBX3_uc004bqe.3_Missense_Mutation_p.R198Q	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	290					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGCAACAAACGAATCAGGTAC	0.473000														33			8		0	0	0.000274275	0	0
ZNF331	55422	broad.mit.edu	37	19	54080585	54080585	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54080585A>G	uc002qbx.1	+	6	2205	c.771A>G	c.(769-771)aaA>aaG	p.K257K	ZNF331_uc002qby.1_Silent_p.K257K|ZNF331_uc002qbz.1_Silent_p.K257K|ZNF331_uc010eqr.1_Silent_p.K257K|ZNF331_uc002qca.1_Silent_p.K257K|ZNF331_uc021uzg.1_Silent_p.K257K|ZNF331_uc021uzh.1_Silent_p.K257K|ZNF331_uc002qcb.1_Silent_p.K257K|ZNF331_uc002qcc.1_Silent_p.K257K|ZNF331_uc002qcd.1_Silent_p.K257K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GTGTGTATAAACTTATTCAGC	0.453000			T	?	follicular thyroid adenoma									68			5		0	0	0.00116845	0	0
FOXA3	3171	broad.mit.edu	37	19	46375569	46375569	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:46375569G>A	uc002pdr.3	+	1	503	c.306G>A	c.(304-306)ggG>ggA	p.G102G		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	102					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGTGCACGGGAAGGAGATGC	0.687000														12			5		0	0	0.000602214	0	0
OR7D4	125958	broad.mit.edu	37	19	9324983	9324983	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9324983G>A	uc002mla.2	-	0	565	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GTTCACAGAAGAAATGCGGAA	0.498000														65			6		0	0	8.12818e-05	0	0
ZNF852	285346	broad.mit.edu	37	3	44541239	44541239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:44541239G>A	uc011azx.2	-	3	1191	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Nonsense_Mutation_p.R310*			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	344					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CTCTGATGTCGAATAAGACAT	0.423000														37			5		0	0	0.00116845	0	0
INSRR	3645	broad.mit.edu	37	1	156821913	156821913	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156821913G>A	uc010pht.2	-	2	1007	c.708C>T	c.(706-708)ggC>ggT	p.G236G	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.G236G	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	236					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCTGCAGCCCCCCAGGC	0.657000														17			11		0	0	0.000219431	0	0
BTBD11	121551	broad.mit.edu	37	12	108045516	108045516	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:108045516G>A	uc001tmk.1	+	15	3578	c.3057G>A	c.(3055-3057)gcG>gcA	p.A1019A	BTBD11_uc001tml.1_Silent_p.A556A|BTBD11_uc001tmm.1_Silent_p.A98A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1019						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTATCTGTGCGAAAAGCATCA	0.483000														62			8		0	0	0.000442599	0	0
TTC24	164118	broad.mit.edu	37	1	156555557	156555557	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156555557C>T	uc021pbf.1	+	8	1545	c.1509C>T	c.(1507-1509)tgC>tgT	p.C503C		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	503							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCTAGTTGCCCCACGTTTA	0.522000														57			17		0	0	0.00188189	0	0
NOX4	50507	broad.mit.edu	37	11	89133540	89133540	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:89133540A>G	uc001pct.3	-	9	1093	c.854T>C	c.(853-855)cTt>cCt	p.L285P	NOX4_uc009yvr.3_Missense_Mutation_p.L260P|NOX4_uc001pcu.3_Missense_Mutation_p.L211P|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.L285P|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.L119P|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.L261P|NOX4_uc009yvq.3_Missense_Mutation_p.L261P	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	285	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.W284C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGAAATCCAAAGCCAAGTCTA	0.388000														18			3		0	0	0.000602214	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657511	72657511	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:72657511C>T	uc003txs.1	-	12	2401	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		tgtcgtatttcgtcttcagga	0.507000														158			32		0	0	0.000491102	0	0
PSG4	5672	broad.mit.edu	37	19	43411133	43411133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43411133G>A	uc002ovj.1	-	4	1280	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.S234F|PSG4_uc002ovg.1_Missense_Mutation_p.S394F	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	395	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTTACGAACAGAGCAAGCATA	0.438000														176			38		0	0	0.000814825	0	0
PRMT8	56341	broad.mit.edu	37	12	3677890	3677890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:3677890G>A	uc001qmf.3	+	4	867	c.500G>A	c.(499-501)gGt>gAt	p.G167D	PRMT8_uc009zed.3_Missense_Mutation_p.G158D|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.3_5'UTR	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	167					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ATATTTAAGGGTAAAGTGGAA	0.522000														30			10		0	0	0.000442599	0	0
TNR	7143	broad.mit.edu	37	1	175325582	175325582	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:175325582G>A	uc001gkp.1	-	13	3072	c.2991C>T	c.(2989-2991)atC>atT	p.I997I	TNR_uc009wwu.1_Silent_p.I997I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	997	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T996T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTCAACAAGGATGGTCTCTC	0.453000														48			18		0	0	0.00188189	0	0
STRBP	55342	broad.mit.edu	37	9	125909134	125909134	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125909134C>T	uc004bns.3	-	13	1780	c.1338_splice	c.e13+1	p.K446_splice	STRBP_uc004bnt.3_Splice_Site_p.K264_splice|STRBP_uc004bnu.3_Splice_Site_p.K432_splice|STRBP_uc004bnv.3_Splice_Site_p.K446_splice	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	446	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AATACTGTACCTTCACCGCTA	0.328000														29			10		0	0	0.000978159	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827096	96827096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96827096C>T	uc001kkb.3	-	2	445	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CYP2C8_uc010qoa.2_Missense_Mutation_p.G47E|CYP2C8_uc010qoc.2_Missense_Mutation_p.G15E|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.G31E|CYP2C8_uc021pwl.1_Missense_Mutation_p.G47E|CYP2C8_uc010qod.1_Missense_Mutation_p.G31E	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	117					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCATCTCTTTCCATTGCTGGA	0.488000														32			5		0	0	0.000602214	0	0
PARVA	55742	broad.mit.edu	37	11	12534871	12534871	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:12534871C>T	uc001mki.3	+	8	931	c.762C>T	c.(760-762)ttC>ttT	p.F254F	PARVA_uc010rck.1_Silent_p.F201F	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	254					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		ACACCTTGTTCGACCATGCCC	0.537000														128			9		0	0	0.000673444	0	0
PADI1	29943	broad.mit.edu	37	1	17548875	17548875	+	Silent	SNP	G	A	A	rs141135882		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:17548875G>A	uc001bah.1	+	1	275	c.183G>A	c.(181-183)gaG>gaA	p.E61E		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	61					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GTGTGAAAGAGCCCATAGGCA	0.557000														110			7		0	0	0.000274275	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643575	37643575	+	Missense_Mutation	SNP	G	A	A	rs146470162		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:37643575G>A	uc002ofo.1	-	4	1457	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585A_uc002ofm.1_Missense_Mutation_p.S354L|ZNF585A_uc002ofn.1_Missense_Mutation_p.S354L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S354L(2)|p.K409N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.418000														62			9		0	0	0.000442599	0	0
GABRQ	55879	broad.mit.edu	37	X	151821657	151821657	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:151821657C>T	uc004ffp.1	+	8	1832	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	604						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTACGTCCCAAAGGTCG	0.512000														32			8		0	0	0.000274275	0	0
COL4A6	1288	broad.mit.edu	37	X	107436889	107436889	+	Silent	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107436889A>T	uc004enw.4	-	16	1147	c.1044T>A	c.(1042-1044)gtT>gtA	p.V348V	COL4A6_uc004env.4_Silent_p.V347V|COL4A6_uc011msn.2_Silent_p.V347V|COL4A6_uc010npk.3_Silent_p.V347V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	348	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TATCGATGAAAACATCTGGGC	0.373000									Alport syndrome with Diffuse Leiomyomatosis					97			16		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9065720	9065720	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9065720G>A	uc002mkp.3	-	2	21930	c.21726C>T	c.(21724-21726)tcC>tcT	p.S7242S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7244	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTCAGGGAGGAAATTGACT	0.468000														90			16		0	0	0.00152264	0	0
C4orf21	55345	broad.mit.edu	37	4	113505138	113505138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:113505138C>T	uc003iau.3	-	14	4505	c.4294G>A	c.(4294-4296)Gtg>Atg	p.V1432M	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACATACCTCACCAAAAGCTGG	0.348000														81			11		0	0	0.000219431	0	0
RNASET2	8635	broad.mit.edu	37	6	167362086	167362086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:167362086G>A	uc003qve.3	-	2	582	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	RNASET2_uc003qvf.3_5'UTR|RNASET2_uc003qvi.1_Intron	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	59					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CAGTAATCCGGAGGGTCTCTA	0.388000														99			8		0	0	0.000274275	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739142	15739142	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15739142C>T	uc002nbi.3	+	10	1207	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	CYP4F8_uc010xoj.2_Silent_p.T194T	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	382					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTCCTGACCATGTGCCTGA	0.617000														84			6		0	0	8.12818e-05	0	0
CD8B	926	broad.mit.edu	37	2	87042833	87042833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:87042833C>T	uc002srw.3	-	5	688	c.629G>A	c.(628-630)gGg>gAg	p.G210E	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_3'UTR|CD8B_uc002sry.3_Missense_Mutation_p.G180E|CD8B_uc010fgt.3_Missense_Mutation_p.G168R	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	0					T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TATACCTTCCCCTTGAGGCCT	0.413000														125			18		0	0	0.000566183	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736304	140736304	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140736304A>C	uc003ljq.2	+	0	1537	c.1537A>C	c.(1537-1539)Atc>Ctc	p.I513L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.I513L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATACAGGGATCCTATATGC	0.522000														100			16		0	0	0.000308642	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784346	140784346	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140784346C>T	uc003lkh.2	+	0	1827	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.F609F	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	610	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTATTCAAGGCCAGTG	0.612000														35			9		0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92533811	92533811	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92533811C>T	uc001pdj.4	+	8	7649	c.7632C>T	c.(7630-7632)ttC>ttT	p.F2544F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2544	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGATCGATTCCTCATAGACA	0.483000										TCGA Ovarian(4;0.039)				260			38		0	0	0.00195071	0	0
OSM	5008	broad.mit.edu	37	22	30661125	30661125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30661125G>A	uc003ahb.3	-	1	84	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	15					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAGTGCAAGGACCAGACCT	0.582000														89			12		0	0	0.00185496	0	0
ANLN	54443	broad.mit.edu	37	7	36478815	36478815	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:36478815C>T	uc003tff.3	+	20	3090	c.2886C>T	c.(2884-2886)gtC>gtT	p.V962V	ANLN_uc011kaz.2_Silent_p.V874V|ANLN_uc003tfg.3_Silent_p.V925V|ANLN_uc010kxe.3_Silent_p.V924V	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	962	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTTTGCAGGTCCCCTTTTTAT	0.294000														98			9		0	0	0.000673444	0	0
JAM2	58494	broad.mit.edu	37	21	27066102	27066102	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:27066102C>T	uc002ylp.1	+	3	821	c.276C>T	c.(274-276)ttC>ttT	p.F92F	JAM2_uc011ace.1_Silent_p.F92F|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Silent_p.F56F	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	92	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGATAGATTTCAATATCCGGA	0.383000														70			7		0	0	0.000157383	0	0
BCAR3	8412	broad.mit.edu	37	1	94033370	94033370	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:94033370G>A	uc001dpz.3	-	9	2288	c.2013C>T	c.(2011-2013)caC>caT	p.H671H	BCAR3_uc001dqa.3_Silent_p.H671H|BCAR3_uc001dqb.3_Silent_p.H671H|BCAR3_uc001dpx.4_Silent_p.H347H|BCAR3_uc001dpy.3_Silent_p.H580H	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	671	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGGTGTACTGGTGCCGCAGAG	0.488000														75			19		0	0	0.000586117	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443627	5443628	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5443627_5443628CC>TT	uc010qzd.2	+	0	287_288	c.197_198CC>TT	c.(196-198)tcc>tTT	p.S66F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L65I(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTTTCTCTCCATGCTGGCCC	0.545000														61			16		0	0	6.4e-05	0	0
COL4A1	1282	broad.mit.edu	37	13	110822999	110822999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:110822999C>T	uc001vqw.4	-	41	3759	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1213	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCGGAGGACCCATGAATCCT	0.617000														17			7		0	0	0.000157383	0	0
PRPF6	24148	broad.mit.edu	37	20	62664292	62664292	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62664292G>T	uc002yho.3	+	20	2940	c.2772G>T	c.(2770-2772)aaG>aaT	p.K924N	PRPF6_uc002yhp.3_Missense_Mutation_p.K884N|LINC00176_uc002yhq.3_5'Flank|LINC00176_uc011abq.2_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	924					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ACTGGCAGAAGAAGATCGGGG	0.637000														36			11		1.36491e-13	7.11613e-13	0.00185496	1	0
LIPK	643414	broad.mit.edu	37	10	90486639	90486639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:90486639C>T	uc010qmv.2	+	1	193	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	65					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTATAGGATTCCACATGGAAG	0.363000														22			4		0	0	0.00024832	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213610	1213610	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:1213610C>T	uc003jbw.4	+	4	752	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	232					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCTATGTCGTCCTGACCA	0.662000														30			8		0	0	0.000673444	0	0
NDN	4692	broad.mit.edu	37	15	23931639	23931639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:23931639C>T	uc001ywk.3	-	0	812	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	242	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.M242I(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCAGGTAATTCATTTGGACGA	0.592000									Prader-Willi syndrome					45			10		0	0	0.000442599	0	0
MYLK	4638	broad.mit.edu	37	3	123385177	123385177	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123385177G>A	uc003ego.3	-	21	4002	c.3720C>T	c.(3718-3720)atC>atT	p.I1240I	MYLK_uc010hrr.3_5'Flank|MYLK_uc011bjv.2_Silent_p.I40I|MYLK_uc011bjw.2_Silent_p.I1240I|MYLK_uc003egp.3_Silent_p.I1171I|MYLK_uc003egq.3_Silent_p.I1240I|MYLK_uc003egr.3_Silent_p.I1171I|MYLK_uc003egs.3_Silent_p.I1064I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1240	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAACTGGATGATCTGAGGGG	0.557000														29			7		0	0	0.000274275	0	0
CSMD2	114784	broad.mit.edu	37	1	34164413	34164413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:34164413C>T	uc001bxm.1	-	23	4042	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1249K|CSMD2_uc001bxo.1_Missense_Mutation_p.E162K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1249	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGCAGCTCCTCACTACCC	0.602000														53			7		0	0	0.000157383	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:139094905C>T	uc003qie.3	+	0	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000														120			9		0	0	0.000442599	0	0
CRISP2	7180	broad.mit.edu	37	6	49660564	49660564	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:49660564C>T	uc003ozn.2	-	9	890	c.654G>A	c.(652-654)aaG>aaA	p.K218K	CRISP2_uc003ozr.2_Silent_p.K218K|CRISP2_uc003ozo.2_Silent_p.K218K|CRISP2_uc003ozm.2_Silent_p.K253K|CRISP2_uc003ozp.2_Silent_p.K218K|CRISP2_uc003ozq.2_Silent_p.K218K|CRISP2_uc003ozl.2_Silent_p.K218K	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	218						extracellular space		p.L217L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAGCTGTATTCTTCAAGGAAT	0.383000														55			8		0	0	0.000274275	0	0
INO80	54617	broad.mit.edu	37	15	41341560	41341560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:41341560G>A	uc001zni.3	-	20	2714	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	834	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCTTTAGGGAAATATGAAA	0.403000														71			10		0	0	0.000442599	0	0
MMP13	4322	broad.mit.edu	37	11	102826123	102826123	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:102826123A>C	uc001phl.3	-	1	249	c.220T>G	c.(220-222)Ttc>Gtc	p.F74V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	74			F -> S (in MANDP1).		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAGCCGAAGAAAGACTGCATT	0.473000														81			6		0	0	8.12818e-05	0	0
ZNF713	349075	broad.mit.edu	37	7	56007624	56007624	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:56007624C>T	uc003tra.2	+	6	2064	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	ZNF713_uc003trc.1_Silent_p.I406I	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGGAAAATCCATACTCGGG	0.393000														37			7		0	0	8.12818e-05	0	0
IL18R1	8809	broad.mit.edu	37	2	102992492	102992492	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:102992492C>T	uc002tbw.4	+	4	744	c.594C>T	c.(592-594)atC>atT	p.I198I	IL18R1_uc010ywd.2_Silent_p.I43I|IL18R1_uc010fiy.3_Silent_p.I198I|IL18R1_uc010ywc.2_Silent_p.I198I	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	198	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TATTTAATATCACCAAAACCT	0.333000														58			16		0	0	0.00121646	0	0
SLX4	84464	broad.mit.edu	37	16	3633395	3633395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3633395G>A	uc002cvp.2	-	13	5483	c.4856C>T	c.(4855-4857)cCg>cTg	p.P1619L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1619	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGCAACAGCGGCTGTGAGGA	0.612000								Direct reversal of damage						64			17		0	0	0.00121646	0	0
LMO7	4008	broad.mit.edu	37	13	76415931	76415931	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:76415931C>T	uc021rkq.1	+	23	4178	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	LMO7_uc010thv.2_Silent_p.D999D|LMO7_uc001vjt.1_Silent_p.D947D|LMO7_uc001vjv.3_Silent_p.D1048D|LMO7_uc010thw.2_Silent_p.D925D|LMO7_uc001vjw.1_Silent_p.D954D	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1333						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCATGAGGACCAAGGAAAGA	0.517000														56			9		0	0	0.000442599	0	0
KLKB1	3818	broad.mit.edu	37	4	187158042	187158042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187158042C>T	uc003iyy.3	+	4	507	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.R108C	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	146	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTAACATTCGCTGCCAGTT	0.408000														84			10		0	0	0.000978159	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710796	77710796	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77710796C>T	uc001xtf.2	+	15	1658	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	TMEM63C_uc010asq.1_Silent_p.T482T	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	482						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCACTGGACCAGGTGACCTG	0.617000														35			6		0	0	0.00116845	0	0
PI16	221476	broad.mit.edu	37	6	36929677	36929677	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:36929677G>A	uc021yzd.1	+	4	742	c.519G>A	c.(517-519)ggG>ggA	p.G173G	PI16_uc003omz.1_Silent_p.G173G|PI16_uc003ona.3_Silent_p.G173G|PI16_uc011dts.1_5'UTR	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	173						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACGTGAAGGGGAAACGGCCCT	0.627000														48			5		0	0	0.000602214	0	0
CPNE4	131034	broad.mit.edu	37	3	131274340	131274340	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:131274340C>T	uc011blq.2	-	12	1280	c.1170_splice	c.e12+1	p.T390_splice	CPNE4_uc003eok.3_Splice_Site_p.T372_splice|CPNE4_uc003eol.3_Splice_Site_p.T390_splice|CPNE4_uc003eom.3_Splice_Site_p.T372_splice	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	372	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACTCACTCACCGTGTACTCT	0.448000														35			6		0	0	8.12818e-05	0	0
FAM212B	55924	broad.mit.edu	37	1	112270349	112270349	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:112270349G>A	uc001ebo.2	-	1	317	c.135C>T	c.(133-135)ctC>ctT	p.L45L	FAM212B_uc001ebp.2_Silent_p.L30L	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	Homo sapiens family with sequence similarity 212, member B (FAM212B), transcript variant 1, mRNA.	45										cervix(1)|endometrium(1)	2						GCACCTGGAGGAGCTTCAGTT	0.572000														80			5		0	0	0.000602214	0	0
CAPN6	827	broad.mit.edu	37	X	110494480	110494480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:110494480G>A	uc004epc.2	-	6	1119	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	CAPN6_uc011msu.2_Missense_Mutation_p.R55C	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	310	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGGTTCTTGCGATCTGATGCA	0.398000														14			7		0	0	0.000157383	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331282	77331282	+	Missense_Mutation	SNP	C	T	T	rs144292157		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77331282C>T	uc002ffc.4	-	17	3124	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	ADAMTS18_uc010chc.1_Missense_Mutation_p.R490Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R598Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	902					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTTTGATCTCGCAAGCAAAT	0.383000														122			8		0	0	0.000442599	0	0
TG	7038	broad.mit.edu	37	8	133984964	133984964	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:133984964C>T	uc003ytw.3	+	33	6218	c.6177C>T	c.(6175-6177)ccC>ccT	p.P2059P	TG_uc010mdw.3_Silent_p.P818P|TG_uc011ljb.2_Silent_p.P428P|TG_uc011ljc.2_Silent_p.P213P	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2059					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACACCTATCCCTTCGGATGGT	0.473000														90			10		0	0	0.000442599	0	0
OR10A4	283297	broad.mit.edu	37	11	6897954	6897954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6897954G>A	uc010rat.2	+	0	99	c.76G>A	c.(76-78)Gct>Act	p.A26T		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGCTTCAGGCTCTACTGTT	0.463000														118			20		0	0	0.00188189	0	0
NLRP3	114548	broad.mit.edu	37	1	247582349	247582349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:247582349G>A	uc001icr.3	+	2	391	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NLRP3_uc001ics.3_Missense_Mutation_p.E85K|NLRP3_uc001icu.3_Missense_Mutation_p.E85K|NLRP3_uc001icw.3_Missense_Mutation_p.E85K|NLRP3_uc001icv.3_Missense_Mutation_p.E85K|NLRP3_uc010pyw.2_Missense_Mutation_p.E83K|NLRP3_uc001ict.1_Missense_Mutation_p.E83K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	85	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGACCTTTATGAGAAAGCAAA	0.463000														40			12		0	0	0.000422831	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140559171C>T	uc011dai.2	+	0	1801	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.687000														429			15		0	0	0.000422831	0	0
CHGB	1114	broad.mit.edu	37	20	5903799	5903799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:5903799G>A	uc002wmg.3	+	3	1315	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	CHGB_uc010zqz.2_Missense_Mutation_p.E20K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	337						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGCTTCAGAGGAAGAACCTGA	0.527000														76			12		0	0	0.00136819	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421503	62421503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62421503G>A	uc002ygv.2	-	1	809	c.608C>T	c.(607-609)cCc>cTc	p.P203L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATCGGCCTTGGGCTCCTGATC	0.607000														25			7		0	0	8.12818e-05	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361279	70361279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:70361279G>A	uc003hek.4	-	0	348	c.301C>T	c.(301-303)Cca>Tca	p.P101S	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.P101S	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	101					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTGTCTTTTGGAAGTTCTGCC	0.323000														22			4		0	0	0.00024832	0	0
F2RL1	2150	broad.mit.edu	37	5	76129487	76129488	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:76129487_76129488GG>TT	uc003keo.3	+	1	1230_1231	c.1055_1056GG>TT	c.(1054-1056)agg>aTT	p.R352I		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	352					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CATGATTTCAGGGATCATGCAA	0.475000														450			14		0	0	6.4e-05	0	0
AK310441	0	broad.mit.edu	37	1	148889643	148889643	+	RNA	SNP	T	C	C	rs4950649	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:148889643T>C	uc009wkv.1	+	6		c.730T>C								Homo sapiens cDNA, FLJ17483.																		GTAGCAGACATTGGTTTTGAT	0.358000														68			5		0	0	8.12818e-05	0	0
KCNK10	54207	broad.mit.edu	37	14	88737116	88737116	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:88737116C>T	uc001xwm.3	-	0	140	c.18G>A	c.(16-18)aaG>aaA	p.K6K	KCNK10_uc001xwn.3_Intron|KCNK10_uc001xwo.3_Intron	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						tcctgtcccccttaaatccat	0.522000														105			18		0	0	0.00188189	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025635	16025635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:16025635G>A	uc002nbu.2	-	9	1222	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	CYP4F11_uc010eab.1_Missense_Mutation_p.P396S|CYP4F11_uc002nbt.2_Missense_Mutation_p.P396S	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	396					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAGATGACCGGGACTGGGGGA	0.607000														56			7		0	0	0.000157383	0	0
ARAP3	64411	broad.mit.edu	37	5	141059648	141059648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:141059648G>A	uc003llm.3	-	1	484	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ARAP3_uc003lln.3_Missense_Mutation_p.P58S|ARAP3_uc003llo.1_Missense_Mutation_p.P136S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	136	Pro-rich.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGAGAGGAGGAGGCCTTGGG	0.617000														132			27		0	0	0.00058488	0	0
MTMR6	9107	broad.mit.edu	37	13	25826016	25826016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25826016G>A	uc001uqf.4	-	11	1772	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	MTMR6_uc001uqe.1_Missense_Mutation_p.P485S	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	485	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ACTGTATTTGGCTCCAAAACT	0.318000														272			29		0	0	0.000339439	0	0
ADRBK2	157	broad.mit.edu	37	22	26091075	26091075	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26091075G>A	uc003abx.4	+	13	1200	c.1053_splice	c.e13-1	p.V351_splice	ADRBK2_uc010gux.3_Splice_Site_p.V351_splice|ADRBK2_uc003abw.2_Splice_Site_p.V238_splice|ADRBK2_uc003aby.4_Splice_Site	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	351	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTCCCTAGTGGCACCCATGG	0.537000														76			6		0	0	8.12818e-05	0	0
TP53	7157	broad.mit.edu	37	17	7579717	7579717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7579717G>A	uc002gim.2	-	2	273	c.79C>T	c.(79-81)Cct>Tct	p.P27S	TP53_uc002gig.1_Missense_Mutation_p.P27S|TP53_uc002gih.3_Missense_Mutation_p.P27S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.P27S|TP53_uc010cnh.1_Missense_Mutation_p.P27S|TP53_uc002gij.2_Missense_Mutation_p.P27S|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Missense_Mutation_p.P27S|TP53_uc002gio.2_Intron|TP53_uc010vug.2_5'UTR|TP53_uc010cnk.1_Missense_Mutation_p.P42S	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P27fs*17(6)|p.L26fs*11(2)|p.L26fs*18(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TTGTTTTCAGGAAGTCTGAAA	0.622000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)				28			5		0	0	0.000157383	0	0
EDNRA	1909	broad.mit.edu	37	4	148453754	148453754	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:148453754C>T	uc003iky.3	+	3	1175	c.645C>T	c.(643-645)atC>atT	p.I215I	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_3'UTR|EDNRA_uc010ipf.1_Intron	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	215					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TGTCCTTTATCCTGGCCATTC	0.463000														122			22		0	0	0.00047179	0	0
UNC79	57578	broad.mit.edu	37	14	94053211	94053212	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94053211_94053212CC>AA	uc001ybv.1	+	18	2541_2542	c.2458_2459CC>AA	c.(2458-2460)cct>AAt	p.P820N	UNC79_uc001ybs.1_Missense_Mutation_p.P820N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	997						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAAAGATCACCCTCAATTTTTA	0.366000														188			12		0	0	6.4e-05	0	0
IL37	27178	broad.mit.edu	37	2	113675292	113675292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113675292G>A	uc002tij.3	+	3	388	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	IL37_uc002tim.3_Missense_Mutation_p.G55R|IL37_uc002tik.3_Missense_Mutation_p.G95R|IL37_uc002til.3_Missense_Mutation_p.G76R|IL37_uc002tin.3_Missense_Mutation_p.G90R	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	116					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGTCTCTAAAGGGGAGTTTTG	0.483000														93			5		0	0	0.000602214	0	0
ASIC5	51802	broad.mit.edu	37	4	156775387	156775387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:156775387C>T	uc003ipe.1	-	2	474	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	143						integral to membrane|plasma membrane											GCAGTAATTTCTTGAAGATGG	0.388000														38			5		0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9057123	9057123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9057123C>T	uc002mkp.3	-	2	30527	c.30323G>A	c.(30322-30324)gGa>gAa	p.G10108E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10110	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGTGGTTCCCACATTGGT	0.478000														35			10		0	0	0.000673444	0	0
WFDC1	58189	broad.mit.edu	37	16	84351933	84351933	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:84351933C>T	uc002fhv.3	+	2	570	c.393C>T	c.(391-393)ctC>ctT	p.L131L	WFDC1_uc002fhw.3_Silent_p.L131L	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	131					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						ATGGCTGGCTCCTGGATGGCC	0.572000														50			5		0	0	0.00116845	0	0
TG	7038	broad.mit.edu	37	8	134108506	134108506	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:134108506C>T	uc003ytw.3	+	42	7502	c.7461C>T	c.(7459-7461)ttC>ttT	p.F2487F	TG_uc010mdw.3_Silent_p.F1246F|TG_uc011ljb.2_Silent_p.F856F|TG_uc011ljc.2_Silent_p.F620F|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2487					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGCCACTTCCTCCGTGAGC	0.532000														141			15		0	0	0.000219431	0	0
MUC17	140453	broad.mit.edu	37	7	100685187	100685187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100685187C>T	uc003uxp.1	+	2	10543	c.10490C>T	c.(10489-10491)tCa>tTa	p.S3497L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3497	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCAATTCATCTCCTACA	0.522000														229			39		0	0	0.00148497	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:111368615G>A	uc003dxw.3	+	14	1890	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	CD96_uc003dxx.3_Missense_Mutation_p.E558K|CD96_uc010hpy.1_Missense_Mutation_p.E557K	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	574					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome					113			7		0	0	0.000157383	0	0
MOV10L1	54456	broad.mit.edu	37	22	50530480	50530480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:50530480G>A	uc003bjj.3	+	1	231	c.148G>A	c.(148-150)Gat>Aat	p.D50N	MOV10L1_uc003bjk.4_Missense_Mutation_p.D50N|MOV10L1_uc011arp.2_Missense_Mutation_p.D30N|MOV10L1_uc010han.3_Missense_Mutation_p.D30N	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	50					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTACTGCAGCGATTATGGCAT	0.448000														91			12		0	0	0.00185496	0	0
SCN2A	6326	broad.mit.edu	37	2	166172225	166172225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:166172225G>A	uc002udc.3	+	10	1918	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	SCN2A_uc002udd.3_Missense_Mutation_p.G543E|SCN2A_uc002ude.3_Missense_Mutation_p.G543E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	543					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCTTGGAAGGAAGTAGGCTG	0.338000														91			19		0	0	0.00152264	0	0
JAK3	3718	broad.mit.edu	37	19	17943659	17943659	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:17943659G>A	uc002nhn.4	-	17	2530	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.A810A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	810					B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTCTTGGCAGGCATAGAGCT	0.627000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									37			9		0	0	0.000274275	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127379	62127379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62127379C>T	uc002yfe.1	-	2	320	c.154G>A	c.(154-156)Gga>Aga	p.G52R		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	52						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGAAGGATCCCTTCCCCATC	0.632000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			6		0	0	8.12818e-05	0	0
LNX2	222484	broad.mit.edu	37	13	28141846	28141846	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:28141846G>A	uc001url.4	-	3	1095	c.786C>T	c.(784-786)atC>atT	p.I262I	LNX2_uc001urm.1_Silent_p.I262I	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	262	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGACCTCCTGGATGACAATGT	0.433000														51			9		0	0	0.000673444	0	0
GPR1	2825	broad.mit.edu	37	2	207040918	207040918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207040918C>T	uc021vvl.1	-	0	1054	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	GPR1_uc002vbl.4_Missense_Mutation_p.E352K|GPR1_uc010fue.3_Missense_Mutation_p.E352K|GPR1_uc010fuf.3_Missense_Mutation_p.E352K	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	352						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TGAGCTGTTTCCAGGAGACAC	0.408000														40			6		0	0	0.000274275	0	0
LILRA5	353514	broad.mit.edu	37	19	54823207	54823207	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54823207C>T	uc002qfe.3	-	3	456	c.336G>A	c.(334-336)ggG>ggA	p.G112G	LILRA5_uc002qff.3_Silent_p.G100G|LILRA5_uc010yev.2_Silent_p.G112G|LILRA5_uc010yew.2_Silent_p.G100G|LILRA5_uc002qfg.1_Silent_p.G112G|LILRA5_uc002qfh.1_Silent_p.G100G	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCGGTATCTCCCTGCATGGT	0.587000														110			25		0	0	0.00127121	0	0
SPEF2	79925	broad.mit.edu	37	5	35814644	35814644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35814644G>A	uc003jjo.3	+	36	5569	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K	SPEF2_uc003jjr.3_Missense_Mutation_p.E875K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1820					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATACAGAGGAAAAGAAATG	0.313000														79			9		0	0	0.000274275	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213461	28213461	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:28213461G>A	uc003nks.1	-	4	1315	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ZKSCAN4_uc011dlb.1_Silent_p.F202F	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCTCCCAATGAAGGTCTTTC	0.458000														55			25		0	0	0.00127121	0	0
ADAM29	11086	broad.mit.edu	37	4	175898763	175898763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:175898763G>A	uc003iuc.3	+	4	2757	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q	ADAM29_uc003iud.3_Missense_Mutation_p.R696Q|ADAM29_uc010irr.3_Missense_Mutation_p.R696Q|ADAM29_uc011cki.2_Missense_Mutation_p.R696Q|ADAM29_uc021xuo.1_Missense_Mutation_p.R696Q	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	696					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R696Q(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTCTTTATCGACTTTGTAAA	0.343000														30			7		0	0	0.000274275	0	0
MLL3	58508	broad.mit.edu	37	7	151945151	151945151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:151945151C>T	uc003wla.3	-	13	2587	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	790					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S789L(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAGGCAAGTCTGAAGAAGGT	0.423000			N		medulloblastoma									449			8		0	0	0.000274275	0	0
ABCA13	154664	broad.mit.edu	37	7	48308594	48308594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:48308594C>T	uc003toq.2	+	15	2047	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	ABCA13_uc010kyr.2_Missense_Mutation_p.P178S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	675					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAGGAATCTCCTTGTTTTGA	0.289000														44			7		0	0	0.000157383	0	0
OR52R1	119695	broad.mit.edu	37	11	4824701	4824701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4824701C>T	uc021qcs.1	-	0	910	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAACCCTGTCCCCGATCTGT	0.468000														41			11		0	0	0.000673444	0	0
COL4A5	1287	broad.mit.edu	37	X	107865993	107865993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107865993C>T	uc022ccg.1	+	32	3057	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	COL4A5_uc004enz.1_Missense_Mutation_p.P952L|COL4A5_uc004eob.1_Missense_Mutation_p.P560L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	952	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGGCCCTCCTGGACCAATG	0.473000									Alport syndrome with Diffuse Leiomyomatosis					29			13		0	0	0.00185496	0	0
ZNF229	7772	broad.mit.edu	37	19	44933267	44933267	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44933267C>T	uc002oze.1	-	5	2123	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF229_uc010ejk.1_Silent_p.Q217Q|ZNF229_uc010ejl.1_Silent_p.Q557Q	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGACCCTCTGATGGATGT	0.567000														43			6		0	0	0.00116845	0	0
DDI1	414301	broad.mit.edu	37	11	103907887	103907887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:103907887G>A	uc001phr.2	+	0	580	c.337G>A	c.(337-339)Gga>Aga	p.G113R	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	113					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACAGCACCCTGGACAGCAGCA	0.687000														27			6		0	0	0.00116845	0	0
RNF17	56163	broad.mit.edu	37	13	25451149	25451149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25451149C>T	uc001upr.3	+	33	4639	c.4598C>T	c.(4597-4599)cCt>cTt	p.P1533L	RNF17_uc010tde.2_Missense_Mutation_p.P1529L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1472L|RNF17_uc010aac.3_Missense_Mutation_p.P725L|RNF17_uc010aad.3_Missense_Mutation_p.P543L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1533	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGCCAAATTCCTTCTCATCTT	0.408000														118			7		0	0	0.000274275	0	0
CPXM1	56265	broad.mit.edu	37	20	2776943	2776943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2776943G>A	uc002wgu.3	-	8	1266	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y	CPXM1_uc010gas.3_Missense_Mutation_p.H398Y	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	398					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCAGCAGGTGAATGCGCATC	0.627000														32			5		0	0	0.000602214	0	0
MAEL	84944	broad.mit.edu	37	1	166961963	166961963	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:166961963C>T	uc001gdy.1	+	3	437	c.366C>T	c.(364-366)agC>agT	p.S122S	MAEL_uc021peh.1_Silent_p.S66S|MAEL_uc001gdz.1_Silent_p.S91S|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	122					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACATTTTTAGCCATGGCGAGC	0.363000														63			13		0	0	0.000308642	0	0
INSL4	3641	broad.mit.edu	37	9	5233821	5233821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:5233821C>T	uc003ziy.3	+	1	469	c.364C>T	c.(364-366)Cca>Tca	p.P122S		NM_002195	NP_002186	Q14641	INSL4_HUMAN	Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA.	122					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGATTTGATCCATTCTGTTG	0.383000														28			8		0	0	0.000274275	0	0
ADRA2B	151	broad.mit.edu	37	2	96781752	96781752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:96781752G>A	uc021vlh.1	-	0	137	c.137C>T	c.(136-138)cCt>cTt	p.P46L		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	46					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CAGGTTCTGAGGGGCGCGCAG	0.632000														20			4		0	0	0.000602214	0	0
OR7G1	125962	broad.mit.edu	37	19	9226320	9226320	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9226320C>T	uc021uoi.1	-	0	120	c.120G>A	c.(118-120)ctG>ctA	p.L40L	OR7G1_uc002mks.1_Silent_p.L40L	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GCAGGTTCCCCAGGATGGTGA	0.473000														62			14		0	0	0.000219431	0	0
PDE6A	5145	broad.mit.edu	37	5	149314197	149314197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149314197C>T	uc003lrg.4	-	1	679	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PDE6A_uc021yfs.1_Intron	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	187	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCCACCACATCCTTCCCATTC	0.448000														64			5		0	0	0.000602214	0	0
TMC5	79838	broad.mit.edu	37	16	19460932	19460932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:19460932G>A	uc002dgc.4	+	4	1776	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	TMC5_uc010vaq.2_Missense_Mutation_p.D343N|TMC5_uc002dgb.4_Missense_Mutation_p.D343N|TMC5_uc010var.2_Missense_Mutation_p.D343N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	343						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTGAATGTGATTGGCACAA	0.488000														99			20		0	0	0.00152264	0	0
CSMD1	64478	broad.mit.edu	37	8	2813223	2813223	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:2813223G>A	uc022aqr.1	-	63	10272	c.9882C>T	c.(9880-9882)ttC>ttT	p.F3294F	CSMD1_uc011kwj.2_Silent_p.F2624F|CSMD1_uc010lrg.3_Silent_p.F1186F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3295	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGTAGCCGAAAGTAGGAA	0.502000														63			14		0	0	0.00185496	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724782	13724782	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13724782G>A	uc001rbt.2	-	9	2306	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	709					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCTCTGGTTGAACTTTCCCA	0.468000														112			26		0	0	0.00178596	0	0
ABCA4	24	broad.mit.edu	37	1	94473280	94473280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:94473280C>T	uc001dqh.3	-	42	6019	c.5915G>A	c.(5914-5916)gGa>gAa	p.G1972E	ABCA4_uc001dqi.1_Missense_Mutation_p.G91E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1972	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L1971L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATTCACTCCCAGGAGGCC	0.542000														58			9		0	0	0.000274275	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20499350	20499350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:20499350C>T	uc009vpq.1	-	1	223	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_001105572	NP_001099042			Homo sapiens phospholipase A2, group IIC (PLA2G2C), mRNA.											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCTGAACTCCTTCAGCTTC	0.527000														56			6		0	0	8.12818e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40980835	40980835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40980835G>A	uc002xkg.3	-	9	1835	c.1651C>T	c.(1651-1653)Cac>Tac	p.H551Y	PTPRT_uc010ggj.3_Missense_Mutation_p.H551Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	551	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAAAGAGGTGGTGGGTTTCA	0.572000														56			10		0	0	0.000978159	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352349	38352349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:38352349C>T	uc003jlc.2	+	4	807	c.461C>T	c.(460-462)tCg>tTg	p.S154L	EGFLAM_uc003jlb.2_Missense_Mutation_p.S154L	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	154	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.S154S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTGTGGTTTCGGATTCTGAG	0.522000														138			11		0	0	0.00136819	0	0
INPP5D	3635	broad.mit.edu	37	2	234079217	234079217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:234079217G>A	uc010zmo.2	+	14	1933	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	INPP5D_uc010zmp.2_Missense_Mutation_p.E593K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	623					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTGCTCACAGAGAGGAGGGA	0.577000														40			6		0	0	8.12818e-05	0	0
MYLK	4638	broad.mit.edu	37	3	123345668	123345668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123345668C>T	uc003ego.3	-	30	5517	c.5235G>A	c.(5233-5235)tgG>tgA	p.W1745*	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Nonsense_Mutation_p.W180*|MYLK_uc011bjv.2_Nonsense_Mutation_p.W545*|MYLK_uc011bjw.2_Nonsense_Mutation_p.W1745*|MYLK_uc003egp.3_Nonsense_Mutation_p.W1676*|MYLK_uc003egq.3_Nonsense_Mutation_p.W1694*|MYLK_uc003egr.3_Nonsense_Mutation_p.W1625*|MYLK_uc003egs.3_Nonsense_Mutation_p.W1569*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1745	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATTACCTGCCATTTCCTTC	0.483000														89			9		0	0	0.000673444	0	0
SRSF12	135295	broad.mit.edu	37	6	89808325	89808325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:89808325C>T	uc021zcq.1	-	4	952	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.	253	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	RNA binding|RS domain binding|nucleotide binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACGATAACTTCGAGATCTGGA	0.358000														102			14		0	0	0.000566183	0	0
ABCC6	368	broad.mit.edu	37	16	16256870	16256870	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:16256870G>A	uc002den.4	-	23	3523	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1162	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCAGTCGCGGGAAACTGATCC	0.547000														140			27		0	0	0.00178596	0	0
COL6A3	1293	broad.mit.edu	37	2	238296685	238296685	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:238296685G>A	uc002vwl.2	-	3	1137	c.852C>T	c.(850-852)gtC>gtT	p.V284V	COL6A3_uc002vwo.2_Silent_p.V78V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Silent_p.V78V|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Silent_p.V284V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	284	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGCTAAACTGGACCACCCCCA	0.532000														62			5		0	0	0.000602214	0	0
ADAM30	11085	broad.mit.edu	37	1	120437199	120437200	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:120437199_120437200CC>AA	uc001eij.3	-	0	1948_1949	c.1760_1761GG>TT	c.(1759-1761)tgg>tTT	p.W587F		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	587	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGCCTGTGCCCCAGCACATGAG	0.436000														479			20		0	0	6.4e-05	0	0
SCN11A	11280	broad.mit.edu	37	3	38936224	38936224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38936224C>T	uc021wvy.1	-	14	2834	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	879					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAATGATGTCTTTGCTTTGT	0.507000														69			7		0	0	0.000157383	0	0
SPG11	80208	broad.mit.edu	37	15	44884632	44884632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:44884632G>A	uc001ztx.3	-	26	4671	c.4640C>T	c.(4639-4641)tCc>tTc	p.S1547F	SPG11_uc010ueh.2_Missense_Mutation_p.S1547F|SPG11_uc010uei.2_Missense_Mutation_p.S1547F|SPG11_uc001zty.1_Missense_Mutation_p.S276F	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1547					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAGTAACGGGGAATCCTTTGA	0.303000														84			13		0	0	0.000219431	0	0
TPH2	121278	broad.mit.edu	37	12	72366399	72366400	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:72366399_72366400CG>AT	uc009zrw.1	+	5	850_851	c.709_710CG>AT	c.(709-711)cga>ATa	p.R237I	TPH2_uc001swy.2_Missense_Mutation_p.R147I	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	237					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.R237L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCATGCTTGCCGAGAGTATTTG	0.460000														263			10		0	0	6.4e-05	0	0
PLS1	5357	broad.mit.edu	37	3	142408621	142408621	+	Silent	SNP	G	A	A	rs144604988	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142408621G>A	uc010huv.3	+	9	1302	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	PLS1_uc003euz.3_Silent_p.P381P|PLS1_uc003eva.3_Silent_p.P381P	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	381	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.P381T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCACAAGCCGAATAATAATG	0.358000														64			15		0	0	0.000958276	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520169	72520169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:72520169C>T	uc001jrg.3	+	21	3241	c.3241C>T	c.(3241-3243)Cgc>Tgc	p.R1081C	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R1078C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1078	PLAC.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGTGCTCGATCGCTACTGCTC	0.622000														14			4		0	0	0.00024832	0	0
HTR1E	3354	broad.mit.edu	37	6	87725778	87725778	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:87725778C>T	uc003pli.3	+	1	1429	c.726C>T	c.(724-726)ttC>ttT	p.F242F	HTR1E_uc021zcg.1_Silent_p.F242F	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	242					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CACAGACTTTCTGTGTGTCTG	0.468000														122			24		0	0	0.001512	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														39			7		0	0	0.000442599	0	0
CRIM1	51232	broad.mit.edu	37	2	36704073	36704073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:36704073G>A	uc002rpd.3	+	5	1099	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	345	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGAATATTATGATGGAGACAT	0.433000														136			8		0	0	0.000442599	0	0
PIGG	54872	broad.mit.edu	37	4	509863	509863	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:509863C>T	uc003gak.4	+	5	1139	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	PIGG_uc003gaj.4_Silent_p.L335L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L202L|PIGG_uc003gal.4_Silent_p.L246L|PIGG_uc011buw.2_Silent_p.L213L|PIGG_uc003gam.3_Silent_p.L246L|PIGG_uc003gan.3_Silent_p.L246L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	335					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGGGAGCCTCCTATTCCCAGT	0.473000														74			7		0	0	0.000157383	0	0
BATF2	116071	broad.mit.edu	37	11	64756867	64756867	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64756867C>T	uc021qlb.1	-	0	1120	c.579G>A	c.(577-579)agG>agA	p.R193R	BATF2_uc001oce.1_Missense_Mutation_p.G102R|BATF2_uc001ocf.1_Missense_Mutation_p.G187R	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	181						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GAGGAAGACCCCTGCAGGCTG	0.657000														25			7		0	0	0.000157383	0	0
TARSL2	123283	broad.mit.edu	37	15	102255132	102255132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:102255132C>T	uc002bxm.3	-	3	656	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	201					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCACCATTGACTTTGGCTATT	0.418000														62			8		0	0	0.000274275	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277535	44277535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44277535C>T	uc003beg.3	-	7	1235	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PNPLA5_uc003beh.3_Missense_Mutation_p.D254N|PNPLA5_uc021wqw.1_Missense_Mutation_p.D368N|PNPLA5_uc021wqx.1_Missense_Mutation_p.D254N|PNPLA5_uc011aqc.2_Missense_Mutation_p.D228N	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	368					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCGGCACATCGGGCAGCCAC	0.657000														12			4		0	0	0.000602214	0	0
ASNS	440	broad.mit.edu	37	7	97482666	97482666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:97482666C>T	uc003uot.4	-	10	1777	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ASNS_uc011kin.2_Missense_Mutation_p.R341Q|ASNS_uc011kio.2_Missense_Mutation_p.R403Q|ASNS_uc003uou.4_Missense_Mutation_p.R424Q|ASNS_uc003uov.4_Missense_Mutation_p.R424Q|ASNS_uc003uox.4_Missense_Mutation_p.R341Q	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	424	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAAGAAAATCGATGATCTAG	0.358000														76			14		0	0	0.000422831	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	T	T	rs142863825		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:70064192C>T	uc010kak.3	+	25	3803	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_uc003pev.4_Missense_Mutation_p.S1176L|BAI3_uc011dxx.2_Missense_Mutation_p.S382L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393000														82			6		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179398597	179398597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179398597C>T	uc021vsy.1	-	306	95266	c.95041G>A	c.(95041-95043)Gac>Aac	p.D31681N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D25376N|TTN_uc021vta.1_Missense_Mutation_p.D25309N|TTN_uc021vtb.1_Missense_Mutation_p.D25184N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32608	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATTGTGTCTGTTCTGCGC	0.408000														42			7		0	0	0.000157383	0	0
CRB1	23418	broad.mit.edu	37	1	197390708	197390708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:197390708G>A	uc001gtz.3	+	5	1959	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	CRB1_uc010poz.2_Missense_Mutation_p.D515N|CRB1_uc009wza.3_Missense_Mutation_p.D472N|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.D584N|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.D65N|CRB1_uc001gub.1_Missense_Mutation_p.D233N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	584	Laminin G-like 1.		D -> Y (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I583I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TACCTTAATCGACGACTCCTG	0.453000														43			11		0	0	0.000978159	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833039	101833039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:101833039G>A	uc001pgm.3	+	5	1543	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	KIAA1377_uc001pgn.3_Missense_Mutation_p.D381N|KIAA1377_uc010run.2_Missense_Mutation_p.D226N|KIAA1377_uc009yxa.1_Missense_Mutation_p.D226N	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	425							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGCACTTCAGATTCTCTAAC	0.383000														48			13		0	0	0.00136819	0	0
ITFG1	81533	broad.mit.edu	37	16	47399758	47399758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:47399758G>A	uc002eet.3	-	7	802	c.743C>T	c.(742-744)aCt>aTt	p.T248I	ITFG1_uc010vgg.2_5'UTR|ITFG1_uc010vgh.2_Missense_Mutation_p.T135I	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	248						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTCCAATATAGTACTGACAGA	0.323000														66			14		0	0	0.00121646	0	0
GLRA1	2741	broad.mit.edu	37	5	151231166	151231166	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:151231166C>T	uc003lut.3	-	7	985	c.698_splice	c.e7-1	p.G233_splice	GLRA1_uc003lur.3_Splice_Site_p.G233_splice|GLRA1_uc003lus.3_Splice_Site_p.G150_splice	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	233					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGAATTTACCTGCAAGAAAT	0.493000														34			6		0	0	0.00116845	0	0
NLRP1	22861	broad.mit.edu	37	17	5418809	5418809	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:5418809G>A	uc002gci.3	-	15	4641	c.4086C>T	c.(4084-4086)atC>atT	p.I1362I	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Silent_p.I1318I|NLRP1_uc002gck.3_Silent_p.I1318I|NLRP1_uc002gcj.3_Silent_p.I1332I|NLRP1_uc002gcl.3_Silent_p.I1288I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1362					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGCTGGAGGGATCAGAGTAG	0.512000														43			8		0	0	0.000442599	0	0
HOXA7	3204	broad.mit.edu	37	7	27195938	27195938	+	Missense_Mutation	SNP	G	A	A	rs148543265		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:27195938G>A	uc003sys.3	-	0	359	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	76				DA -> RR (in Ref. 8; AAD00727).	angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.D75N(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTTGCCGTAGGCGTCGGCGCC	0.672000														33			7		0	0	8.12818e-05	0	0
GPR98	84059	broad.mit.edu	37	5	90001217	90001217	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:90001217G>A	uc003kju.3	+	37	8483	c.8387_splice	c.e37-1	p.G2796_splice	GPR98_uc003kjt.3_Splice_Site_p.G502_splice|GPR98_uc003kjv.3_Splice_Site_p.G396_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2796					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATTTTTAGGAGTTCCACCA	0.428000														129			9		0	0	0.000274275	0	0
FAM22F	54754	broad.mit.edu	37	9	97082597	97082597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:97082597C>T	uc004aup.1	-	4	1282	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	421										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TTGCCCTTTTCCCGTTGTCCC	0.587000														43			10		0	0	0.000978159	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888786	136888786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:136888786C>T	uc003qhc.3	-	25	4105	c.3744G>A	c.(3742-3744)atG>atA	p.M1248I	MAP3K5_uc011edj.2_Missense_Mutation_p.M495I|MAP3K5_uc011edk.1_Missense_Mutation_p.M1094I	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1248					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCTATTTTCATCCTTCCAA	0.428000														38			6		0	0	0.000157383	0	0
OR10A2	341276	broad.mit.edu	37	11	6891510	6891510	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6891510C>T	uc001meu.1	+	0	525	c.525C>T	c.(523-525)gtC>gtT	p.V175V		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAGGCTGGTCTGTGCAGACA	0.507000														107			6		0	0	0.000157383	0	0
LCE3B	353143	broad.mit.edu	37	1	152586504	152586504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152586504C>T	uc010pds.2	+	0	218	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	Homo sapiens late cornified envelope 3B (LCE3B), mRNA.	73	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCTCCAACTCCTGTGACAGA	0.627000														64			30		0	0	0.00058488	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955392	18955392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18955392C>T	uc001mpg.3	-	0	1158	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	314					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCGACAGCTCCAGGATTTCC	0.557000														96			6		0	0	0.000157383	0	0
KIF18B	146909	broad.mit.edu	37	17	43006350	43006350	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:43006350G>A	uc010wji.2	-	11	1697	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	KIF18B_uc002iht.3_Silent_p.S532S|KIF18B_uc010wjh.2_Silent_p.S520S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTTGGAGCAGGGAGTACTGCC	0.582000														34			10		0	0	0.00136819	0	0
CDH13	1012	broad.mit.edu	37	16	83781718	83781718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:83781718C>T	uc010vns.2	+	11	1949	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F	CDH13_uc002fgx.3_Missense_Mutation_p.S515F|CDH13_uc010vnt.2_Missense_Mutation_p.S261F|CDH13_uc010vnu.2_Missense_Mutation_p.S476F	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	515	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTCAGGTATTCTGTTTACAAG	0.473000														118			25		0	0	0.000692331	0	0
C3orf67	200844	broad.mit.edu	37	3	58870302	58870302	+	Silent	SNP	G	A	A	rs143276468		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:58870302G>A	uc003dkt.1	-	6	718	c.309C>T	c.(307-309)ttC>ttT	p.F103F	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Silent_p.F11F	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	103										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATGGCCTCCGAATTTTATTT	0.408000														110			18		0	0	0.00188189	0	0
OR5T1	390155	broad.mit.edu	37	11	56043350	56043350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56043350C>T	uc001nio.1	+	0	236	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGTGTTTTATCATTCTTGGAT	0.373000														68			8		0	0	0.000157383	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881444	142881444	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142881444G>A	uc011ksw.2	+	0	933	c.933G>A	c.(931-933)ctG>ctA	p.L311L		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	311					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CAATTCTACTGATTCAAGATA	0.473000														17			5		0	0	8.12818e-05	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207734	36207734	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:36207734G>A	uc001wtj.3	-	11	1963	c.1572C>T	c.(1570-1572)acC>acT	p.T524T	RALGAPA1_uc001wti.3_Silent_p.T524T|RALGAPA1_uc010tpv.2_Silent_p.T524T|RALGAPA1_uc010tpw.1_Silent_p.T524T|RALGAPA1_uc001wtk.1_Silent_p.T375T	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	524					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACTGCCTGGGTACCAGCTC	0.373000														49			7		0	0	8.12818e-05	0	0
SYT16	83851	broad.mit.edu	37	14	62463248	62463248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:62463248G>A	uc001xfu.1	+	0	708	c.511G>A	c.(511-513)Gga>Aga	p.G171R	SYT16_uc010tsd.1_Missense_Mutation_p.G171R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	171										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AACTGTTAATGGAAAAAAGCA	0.398000														69			9		0	0	0.000978159	0	0
CCDC157	550631	broad.mit.edu	37	22	30766800	30766800	+	Silent	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30766800G>C	uc011aku.2	+	4	1566	c.906G>C	c.(904-906)ggG>ggC	p.G302G	CCDC157_uc011akv.2_Silent_p.G302G	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	302										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGGCTGAAGGGCAGAAGGATG	0.677000														24			9		0	0	0.000673444	0	0
GPR98	84059	broad.mit.edu	37	5	90136683	90136683	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:90136683C>T	uc003kju.3	+	77	16996	c.16900C>T	c.(16900-16902)Cag>Tag	p.Q5634*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q3340*|GPR98_uc003kjw.3_Nonsense_Mutation_p.Q1295*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5634					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTTGCAGATCAGCTACATCA	0.468000														33			8		0	0	0.000274275	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352730	16352730	+	Silent	SNP	C	T	T	rs115351575	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16352730C>T	uc001axu.3	+	4	566	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.F119F|CLCNKA_uc001axv.3_Silent_p.F162F|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	162					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCACCCTGTTCCTGGGCAAAG	0.632000														63			6		0	0	8.12818e-05	0	0
RNF19B	127544	broad.mit.edu	37	1	33408031	33408031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:33408031G>A	uc010oho.2	-	6	1435	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	RNF19B_uc001bwm.4_Missense_Mutation_p.P478S|RNF19B_uc010ohp.2_Missense_Mutation_p.P478S	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	479						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCAATGCTGGGATTCTTGAGG	0.483000														43			5		0	0	0.00116845	0	0
MT1H	4496	broad.mit.edu	37	16	56703804	56703804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:56703804C>T	uc002ejw.3	+	0	79	c.8C>T	c.(7-9)cCc>cTc	p.P3L	MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	NM_005951	NP_005942	P80294	MT1H_HUMAN	Homo sapiens metallothionein 1H (MT1H), mRNA.	3	Beta.						metal ion binding|protein binding			lung(5)	5						GCAATGGACCCCAACTGCTCC	0.587000														65			8		0	0	0.000978159	0	0
LAMA2	3908	broad.mit.edu	37	6	129837342	129837342	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129837342C>T	uc021zfb.1	+	64	9324	c.9219C>T	c.(9217-9219)ctC>ctT	p.L3073L	LAMA2_uc003qbn.3_Silent_p.L3071L|LAMA2_uc003qbo.3_Silent_p.L3067L|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	3073	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGATGACCTCAAGCAGTTTG	0.448000														236			29		0	0	0.000814825	0	0
PLCL1	5334	broad.mit.edu	37	2	198949938	198949938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:198949938G>A	uc010fsp.3	+	1	2095	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	PLCL1_uc002uuv.4_Missense_Mutation_p.R487Q	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	566	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C566S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAATGTCTCGAAGGATGTCG	0.393000														43			8		0	0	0.000157383	0	0
SOCS6	9306	broad.mit.edu	37	18	67992275	67992275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:67992275C>T	uc002lkr.1	+	1	687	c.371C>T	c.(370-372)tCc>tTc	p.S124F	SOCS6_uc010dqq.2_Missense_Mutation_p.S124F|SOCS6_uc021ulj.1_Missense_Mutation_p.S124F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	124					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCGATAAGGTCCACGTCGCTC	0.617000														28			5		0	0	0.000602214	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468343	35468343	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:35468343C>G	uc021wir.1	+	0	846	c.846C>G	c.(844-846)atC>atG	p.I282M	SLC5A3_uc002yto.3_Missense_Mutation_p.I282M|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	282						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACCAAGTCATCGTGCAGAGGG	0.483000														249			29		0	0	0.000409698	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527205	64527205	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:64527205C>T	uc003dmg.3	-	33	5321	c.5289G>A	c.(5287-5289)ctG>ctA	p.L1763L	ADAMTS9_uc011bfo.2_Silent_p.L1735L|ADAMTS9_uc011bfp.1_Silent_p.L674L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1763	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATTCACCTTCAGAAGCTTTC	0.403000														304			36		0	0	0.00195071	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725308	68725308	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:68725308T>C	uc003hdq.3	-	1	162	c.97A>G	c.(97-99)Acc>Gcc	p.T33A	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Intron	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	33					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGAGCTATGGTGACTGCCAGG	0.383000														38			4		0	0	0.00024832	0	0
SLC12A3	6559	broad.mit.edu	37	16	56924235	56924235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:56924235G>A	uc002ekd.4	+	18	2364	c.2335G>A	c.(2335-2337)Gga>Aga	p.G779R	SLC12A3_uc010ccm.3_Missense_Mutation_p.G779R|SLC12A3_uc010ccn.3_Missense_Mutation_p.G778R	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	779					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGCGGGAGGGACTCAACGT	0.517000														27			5		0	0	0.00116845	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001209	13001209	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:13001209C>T	uc001auq.2	-	2	560	c.474G>A	c.(472-474)agG>agA	p.R158R	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	158										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGAGTCCTGTTCTTGA	0.478000														185			14		0	0	0.00106085	0	0
FAM129A	116496	broad.mit.edu	37	1	184764988	184764988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:184764988C>T	uc001gra.3	-	13	2104	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	637					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AAGGCTTTCTCCTTTGGCCAA	0.542000														50			18		0	0	0.00152264	0	0
MCOLN3	55283	broad.mit.edu	37	1	85499870	85499870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:85499870G>A	uc001dkp.3	-	3	608	c.461C>T	c.(460-462)tCt>tTt	p.S154F	MCOLN3_uc001dkq.3_Missense_Mutation_p.S98F|MCOLN3_uc001dkr.3_Missense_Mutation_p.S154F|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	154						integral to membrane	ion channel activity	p.S154T(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGCCATAGCAGATTGCTTGGT	0.413000														71			9		0	0	0.000274275	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091182	143091182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:143091182G>A	uc003qjd.3	-	4	5437	c.4694C>T	c.(4693-4695)tCt>tTt	p.S1565F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1565	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCATCTGAAGATTCTTTGCT	0.537000														91			21		0	0	0.000375601	0	0
SH3RF1	57630	broad.mit.edu	37	4	170077757	170077757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:170077757C>T	uc003isa.1	-	2	802	c.467G>A	c.(466-468)aGc>aAc	p.S156N	SH3RF1_uc010irc.1_5'UTR	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	156	SH3 1.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTCACCTTTGCTGAATTTAAG	0.398000														84			7		0	0	8.12818e-05	0	0
PGM5	5239	broad.mit.edu	37	9	71114251	71114251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:71114251C>T	uc004agr.3	+	9	1817	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	530					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGAGAGGGATCCCAGCGGCCA	0.572000														22			6		0	0	8.12818e-05	0	0
SORL1	6653	broad.mit.edu	37	11	121475026	121475026	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:121475026C>T	uc001pxx.3	+	32	4773	c.4644C>T	c.(4642-4644)gcC>gcT	p.A1548A	SORL1_uc010rzp.1_Silent_p.A394A|SORL1_uc010rzq.1_Silent_p.A163A	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1548	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGAAAAGGCCTGCAGTGGTG	0.667000														23			6		0	0	0.00116845	0	0
C9orf174	100499483	broad.mit.edu	37	9	100119947	100119947	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:100119947C>T	uc011lut.2	+	38	4858	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	C9orf174_uc004axe.2_Silent_p.F1116F|C9orf174_uc011lus.2_Silent_p.F934F|C9orf174_uc004axg.2_Silent_p.F1145F|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1116						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GATTAAATTTCTCTCTGCAAC	0.358000														206			26		0	0	0.000491102	0	0
NUP98	4928	broad.mit.edu	37	11	3797170	3797170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:3797170G>A	uc001lyh.3	-	4	858	c.437C>T	c.(436-438)tCc>tTc	p.S146F	NUP98_uc001lyi.3_Missense_Mutation_p.S146F|NUP98_uc001lyj.2_Missense_Mutation_p.S146F|NUP98_uc001lyk.2_Missense_Mutation_p.S146F|NUP98_uc010qxv.2_Missense_Mutation_p.S109F	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	146	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCCAAAGAGGGAGCCAGATGT	0.398000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									157			17		0	0	0.00121646	0	0
LRPPRC	10128	broad.mit.edu	37	2	44126743	44126743	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:44126743T>C	uc002rtr.2	-	33	3628	c.3570_splice	c.e33-1	p.N1190_splice		NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1190	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTATGTTATTACTGTTAAAA	0.289000														282			25		0	0	0.00047179	0	0
COL6A1	1291	broad.mit.edu	37	21	47412101	47412101	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:47412101C>T	uc002zhu.1	+	16	1308	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	402	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCCTGGGCCCCCCGGAGAGA	0.647000														43			10		0	0	0.00185496	0	0
COL24A1	255631	broad.mit.edu	37	1	86375671	86375671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:86375671G>A	uc001dlj.3	-	25	2707	c.2632C>T	c.(2632-2634)Cca>Tca	p.P878S	COL24A1_uc001dli.3_Missense_Mutation_p.P14S|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P178S|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	878	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGTGGGCCTGGACTTCCACGT	0.388000														91			15		0	0	0.00121646	0	0
FAM83B	222584	broad.mit.edu	37	6	54805003	54805003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:54805003C>T	uc003pck.3	+	4	1350	c.1234C>T	c.(1234-1236)Cca>Tca	p.P412S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	412										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAATAATCCACCTGGTAA	0.458000														48			9		0	0	0.000442599	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952313	16952313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrY:16952313C>T	uc011nas.1	+	6	1861	c.1682C>T	c.(1681-1683)cCt>cTt	p.P561L	NLGN4Y_uc004fte.2_Missense_Mutation_p.P373L|NLGN4Y_uc004ftg.2_Missense_Mutation_p.P541L|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P234L|NLGN4Y_uc004fth.2_Missense_Mutation_p.P541L	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	541					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAACCAGTTCCTCAGGATACC	0.393000														58			27		0	0	0.000339439	0	0
PDGFC	56034	broad.mit.edu	37	4	157771494	157771494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:157771494G>A	uc003iph.2	-	1	684	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	65	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGATAAGTATGAGGAAACCTT	0.373000														45			6		0	0	8.12818e-05	0	0
PAX7	5081	broad.mit.edu	37	1	19062344	19062344	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:19062344C>T	uc001bay.3	+	7	1972	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	PAX7_uc001baz.3_Silent_p.A456A|PAX7_uc010oct.2_Silent_p.A458A	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	458					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A458A(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCCCGTGGCCGGCTATCAGT	0.672000			T	FOXO1A	alveolar rhabdomyosarcoma									37			5		0	0	0.000602214	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5632083	5632084	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5632083_5632084GG>AA	uc001mbd.3	+	7	1325_1326	c.1062_1063GG>AA	c.(1060-1065)gtggga>gtAAga	p.G355R	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.G301R|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.G152R|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.G327R|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.G152R|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.G152R|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.G152R|TRIM6-TRIM34_uc009yep.1_3'UTR	NM_001003818	NP_001185574	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 6 (TRIM6), transcript variant 1, mRNA.	677						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGAGGTTTGTGGGAGCTAAAGT	0.465000														47			12		0	0	6.4e-05	0	0
MYH3	4621	broad.mit.edu	37	17	10533710	10533710	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10533710C>T	uc002gmq.2	-	36	5440	c.5352G>A	c.(5350-5352)aaG>aaA	p.K1784K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1784					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCAGGTTCTTCTTCATCCGCT	0.577000														83			7		0	0	0.000157383	0	0
KIAA0564	23078	broad.mit.edu	37	13	42161771	42161771	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:42161771G>A	uc001uyj.3	-	41	5218	c.5148C>T	c.(5146-5148)cgC>cgT	p.R1716R		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1716	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTACCACCAGGCGCAGACGCT	0.542000														58			6		0	0	8.12818e-05	0	0
DCX	1641	broad.mit.edu	37	X	110574161	110574161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:110574161G>A	uc004epd.3	-	4	1332	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	DCX_uc011msv.2_Missense_Mutation_p.S387F|DCX_uc004epe.3_Missense_Mutation_p.S306F|DCX_uc004epf.3_Missense_Mutation_p.S306F|DCX_uc004epg.3_Missense_Mutation_p.S306F	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	387	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTCAGCTGGAGACTTGCTTCG	0.527000														77			10		0	0	0.000978159	0	0
PRX	57716	broad.mit.edu	37	19	40901315	40901315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40901315C>T	uc002onr.3	-	6	3213	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	PRX_uc002onq.3_Missense_Mutation_p.E843K|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	982					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCTGCCTCCCCAGCCCCT	0.647000														53			12		0	0	0.000219431	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027487	86027487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:86027487C>T	uc003ycw.3	+	4	905	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.P140S|LRRCC1_uc010maa.2_Intron|LRRCC1_uc003ycy.3_Missense_Mutation_p.P213S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	233					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCTGATTCTCCCCTAAATAT	0.279000														76			6		0	0	0.00116845	0	0
CEACAM20	125931	broad.mit.edu	37	19	45029212	45029212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:45029212C>T	uc010ejn.1	-	1	134	c.118G>A	c.(118-120)Gat>Aat	p.D40N	CEACAM20_uc010ejo.1_Missense_Mutation_p.D40N|CEACAM20_uc010ejp.1_Missense_Mutation_p.D40N|CEACAM20_uc010ejq.1_Missense_Mutation_p.D40N	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	40						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGGTGGCATCAAGTGGGTTG	0.572000														360			15		0	0	0.00074312	0	0
FAM175B	23172	broad.mit.edu	37	10	126523103	126523103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:126523103C>T	uc001lib.4	+	8	856	c.811C>T	c.(811-813)Ccg>Tcg	p.P271S		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	271						BRISC complex	polyubiquitin binding			NS(1)	1						CAGACAGATGCCGTCTGAAAG	0.478000														43			6		0	0	0.00116845	0	0
LCE1E	353135	broad.mit.edu	37	1	152759921	152759921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152759921G>A	uc021ozg.1	+	0	146	c.146G>A	c.(145-147)gGa>gAa	p.G49E	LCE1E_uc001fan.3_Missense_Mutation_p.G49E	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	49	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGCTCCGGAGGCTGCTGT	0.657000														44			16		0	0	0.00047179	0	0
ABCA8	10351	broad.mit.edu	37	17	66898986	66898986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:66898986G>A	uc002jhq.3	-	20	2972	c.2632C>T	c.(2632-2634)Ctt>Ttt	p.L878F	ABCA8_uc002jhp.3_Missense_Mutation_p.L838F|ABCA8_uc010wqq.2_Missense_Mutation_p.L878F|ABCA8_uc010wqr.2_Missense_Mutation_p.L817F|ABCA8_uc002jhr.3_Missense_Mutation_p.L878F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	838						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TACTCCACAAGAAGAGGGCAA	0.388000														88			5		0	0	8.12818e-05	0	0
KLK6	5653	broad.mit.edu	37	19	51466790	51466790	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51466790G>A	uc002puh.3	-	2	305	c.240C>T	c.(238-240)ttC>ttT	p.F80F	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.F71F|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_5'UTR|KLK6_uc002pul.3_Silent_p.F71F|KLK6_uc002pum.3_5'UTR	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	71	Peptidase S1.	Cleavage; by autolysis.			amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCTTCCCCAGGAAGACCTGAA	0.577000														41			7		0	0	0.000442599	0	0
TH	7054	broad.mit.edu	37	11	2190958	2190958	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:2190958C>T	uc001lvq.3	-	2	346	c.327G>A	c.(325-327)ggG>ggA	p.G109G	TH_uc001lvp.3_Silent_p.G105G|TH_uc001lvr.3_Silent_p.G78G|TH_uc010qxj.2_Silent_p.G82G|TH_uc001lvs.3_Silent_p.G78G|TH_uc001lvt.3_Silent_p.G82G|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	109					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCACGGCCTTCCCCTCCTTCT	0.692000														35			4		0	0	0.000602214	0	0
LRP1B	53353	broad.mit.edu	37	2	141473639	141473639	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:141473639A>G	uc002tvj.1	-	36	6898	c.5926T>C	c.(5926-5928)Tta>Cta	p.L1976L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1976					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1976V(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTCAATTAAGTTGAAACCA	0.343000										TSP Lung(27;0.18)				84			5		0	0	0.000602214	0	0
TPO	7173	broad.mit.edu	37	2	1491755	1491755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1491755G>A	uc002qwr.3	+	9	1846	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G587E|TPO_uc002qwx.3_Intron|TPO_uc002qwu.3_Intron|TPO_uc010yio.2_Missense_Mutation_p.G414E|TPO_uc010yip.2_Missense_Mutation_p.G587E|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	587					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			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	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)	CGGGACCACGGGCTGCCAGGT	0.577000														65			6		0	0	0.00116845	0	0
RBM25	58517	broad.mit.edu	37	14	73538380	73538380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:73538380C>T	uc010ttu.2	+	2	307	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	RBM25_uc001xnn.4_Missense_Mutation_p.P11S|RBM25_uc001xno.3_Missense_Mutation_p.P11S|RBM25_uc001xnp.3_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	11					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAATCGCCCTCCCATGGGAAT	0.433000														57			7		0	0	0.000274275	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284891	15284891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15284891G>A	uc002nan.3	-	24	4800	c.4724C>T	c.(4723-4725)cCc>cTc	p.P1575L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1575					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GATCACCTCGGGGGCCAGCTC	0.632000														27			7		0	0	0.000274275	0	0
DNAJC16	23341	broad.mit.edu	37	1	15892438	15892438	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:15892438C>T	uc001aws.3	+	11	1743	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	DNAJC16_uc001awr.1_Silent_p.S541S|DNAJC16_uc001awt.3_Silent_p.S229S|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	541					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCCTGCTGTCCCTGATCTTCT	0.423000														446			21		0	0	0.000375601	0	0
abParts	0	broad.mit.edu	37	14	107062293	107062293	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:107062293C>T	uc021ser.1	-	150		c.6693G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGGGGCT	0.572000														13			4		0	0	0.00024832	0	0
MEGF10	84466	broad.mit.edu	37	5	126667076	126667076	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:126667076C>T	uc003kuh.4	+	2	438	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	MEGF10_uc010jdc.1_Silent_p.L26L|MEGF10_uc010jdd.1_Silent_p.L26L|MEGF10_uc003kui.4_Silent_p.L26L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	26	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCATCACCTCTGAATCTTGA	0.388000														93			7		0	0	0.000442599	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103520529	103520529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:103520529C>T	uc001vpu.2	+	19	4084	c.3962C>T	c.(3961-3963)cCa>cTa	p.P1321L	BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.P867L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.P699L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1292					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GAAGGAATACCAACTGTGGGT	0.353000														116			12		0	0	0.00136819	0	0
ZNF334	55713	broad.mit.edu	37	20	45131398	45131398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:45131398C>T	uc002xsa.3	-	3	1111	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	ZNF334_uc002xsb.3_Missense_Mutation_p.E156K|ZNF334_uc002xsd.3_Missense_Mutation_p.E156K|ZNF334_uc002xsc.3_Missense_Mutation_p.E194K|ZNF334_uc010ghl.3_Missense_Mutation_p.E193K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATAAGATTTTCGTTTTGATTG	0.363000														110			8		0	0	0.000442599	0	0
TUBB1	81027	broad.mit.edu	37	20	57599251	57599251	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57599251A>G	uc002yak.3	+	3	1038	c.769A>G	c.(769-771)Atg>Gtg	p.M257V		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	257					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.M257T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCGGTGAACATGGTCCCCTT	0.642000														22			5		0	0	0.000602214	0	0
PAX5	5079	broad.mit.edu	37	9	36966612	36966612	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:36966612G>A	uc003zzo.1	-	5	1162	c.714C>T	c.(712-714)gaC>gaT	p.D238D	PAX5_uc011lpt.1_Silent_p.D15D|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Silent_p.D195D|PAX5_uc010mlr.1_Silent_p.D238D|PAX5_uc011lpw.1_Silent_p.D238D|PAX5_uc011lpx.1_Silent_p.D172D|PAX5_uc011lpy.1_Silent_p.D130D|PAX5_uc010mls.1_Silent_p.D238D|PAX5_uc011lpz.1_Silent_p.D195D|PAX5_uc011lqa.1_Silent_p.D130D|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Silent_p.D238D|PAX5_uc010mlp.1_Silent_p.D238D	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	238					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAAACACGCGGTCCAGCACCT	0.622000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									18			6		0	0	0.00116845	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085236	80085236	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:80085236C>T	uc010ysh.2	+	2	401	c.396C>T	c.(394-396)tcC>tcT	p.S132S	CTNNA2_uc010yse.2_Silent_p.S132S|CTNNA2_uc010ysf.2_Silent_p.S132S|CTNNA2_uc010ysg.2_Silent_p.S132S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	132					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTTGCTCTCCGCGGTGACAC	0.522000														57			9		0	0	0.000274275	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498550	66498550	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:66498550C>T	uc011dxw.2	+	0		c.779C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		AAACTTGTATCCTGGAATCCT	0.458000														25			16		0	0	0.000308642	0	0
HAO2	51179	broad.mit.edu	37	1	119935285	119935285	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:119935285G>A	uc001ehr.1	+	6	1107	c.975G>A	c.(973-975)gaG>gaA	p.E325E	HAO2_uc001ehq.1_Silent_p.E325E	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	325	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAACAAATGAGTTCCACACTT	0.438000														43			12		0	0	0.00136819	0	0
GPR152	390212	broad.mit.edu	37	11	67219347	67219347	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:67219347C>T	uc001olm.3	-	0	854	c.849G>A	c.(847-849)ctG>ctA	p.L283L	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	283						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGAGTAGGATCAGGTAGTCGG	0.652000														36			6		0	0	0.00116845	0	0
ARAP2	116984	broad.mit.edu	37	4	36069702	36069702	+	Missense_Mutation	SNP	G	A	A	rs147139030		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:36069702G>A	uc003gsq.2	-	32	5280	c.4942C>T	c.(4942-4944)Cca>Tca	p.P1648S	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1648					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGGCCTTTTGGTTGCCCAAGT	0.478000														86			7		0	0	0.000274275	0	0
SAMD3	154075	broad.mit.edu	37	6	130476046	130476046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:130476046C>T	uc003qbw.3	-	8	1275	c.947G>A	c.(946-948)aGa>aAa	p.R316K	SAMD3_uc003qbx.3_Missense_Mutation_p.R316K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	316										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCTTTCTTCTTATTTCCAA	0.363000														100			22		0	0	0.000375601	0	0
SAMD7	344658	broad.mit.edu	37	3	169656172	169656172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:169656172G>A	uc003fgd.3	+	8	1486	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	SAMD7_uc003fge.3_Missense_Mutation_p.D407N|SAMD7_uc011bpo.2_Missense_Mutation_p.D308N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACAAGCATTTGATCAACCAGC	0.343000														69			14		0	0	0.000422831	0	0
MECOM	2122	broad.mit.edu	37	3	168834324	168834324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:168834324G>A	uc011bpj.1	-	7	1739	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	MECOM_uc010hwk.1_Missense_Mutation_p.P281S|MECOM_uc003ffj.3_Missense_Mutation_p.P323S|MECOM_uc003ffi.3_Missense_Mutation_p.P258S|MECOM_uc011bpi.1_Missense_Mutation_p.P259S|MECOM_uc003ffn.3_Missense_Mutation_p.P258S|MECOM_uc003ffk.2_Missense_Mutation_p.P258S|MECOM_uc003ffl.2_Missense_Mutation_p.P418S|MECOM_uc011bpk.1_Missense_Mutation_p.P258S|MECOM_uc010hwn.2_Missense_Mutation_p.P446S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGGTTCCAGGAAGTGAAATG	0.473000														36			12		0	0	0.000219431	0	0
TTC37	9652	broad.mit.edu	37	5	94814122	94814123	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:94814122_94814123GG>AA	uc003klb.3	-	39	4533_4534	c.4236_4237CC>TT	c.(4234-4239)tcccaa>tcTTaa	p.Q1413*		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1413							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCATTCCTTGGGATTGATACA	0.436000														39			6		0	0	6.4e-05	0	0
CHD6	84181	broad.mit.edu	37	20	40126089	40126089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40126089G>A	uc002xka.1	-	7	1205	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	CHD6_uc002xkd.2_Missense_Mutation_p.R321C|CHD6_uc002xkc.3_3'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	343	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGCGATGCGAGGATCCTTT	0.413000														71			11		0	0	0.00136819	0	0
LRP2	4036	broad.mit.edu	37	2	170139449	170139449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:170139449G>A	uc002ues.3	-	9	1318	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	LRP2_uc010zdf.1_Missense_Mutation_p.H369Y	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	369	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R368H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCACAGGTGACGGCCAGGT	0.438000														170			9		0	0	0.000978159	0	0
FMO1	2326	broad.mit.edu	37	1	171251294	171251294	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:171251294C>T	uc009wvz.3	+	6	1141	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FMO1_uc010pme.2_Silent_p.F272F|FMO1_uc001ghl.3_Silent_p.F335F|FMO1_uc001ghm.3_Silent_p.F335F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	335					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTGCTTTCCCCTTCCTTG	0.418000														53			14		0	0	0.000566183	0	0
abParts	0	broad.mit.edu	37	14	106653438	106653438	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:106653438C>T	uc021ser.1	-	1433		c.28781G>A								Parts of antibodies, mostly variable regions.																		CAGGAAGTTCCTGGAATTGTC	0.517000														15			8		0	0	0.000157383	0	0
OMA1	115209	broad.mit.edu	37	1	59004759	59004759	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:59004759A>T	uc001cyy.3	-	1	296	c.208T>A	c.(208-210)Ttt>Att	p.F70I	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.F70I|OMA1_uc009vzz.3_Missense_Mutation_p.F70I	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	70					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GTACTATAAAAATGAAAGTTT	0.383000														91			25		0	0	0.000720815	0	0
GBF1	8729	broad.mit.edu	37	10	104140106	104140106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:104140106C>T	uc001kux.2	+	36	5270	c.4976C>T	c.(4975-4977)tCc>tTc	p.S1659F	GBF1_uc001kuy.2_Missense_Mutation_p.S1655F|GBF1_uc001kuz.2_Missense_Mutation_p.S1656F	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1659					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACGCAGGCTCCAGCGACTTA	0.562000														71			9		0	0	0.000978159	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652302	108652302	+	Silent	SNP	C	T	T	rs148430164		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:108652302C>T	uc022cch.1	-	7	1972	c.1887G>A	c.(1885-1887)ggG>ggA	p.G629G	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.G629G	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	629	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R628*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTCTAGGCTCCCTCGGGAAC	0.413000														77			16		0	0	0.00121646	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124405	31124405	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31124405C>T	uc003tca.2	+	7	781	c.492C>T	c.(490-492)tcC>tcT	p.S164S	ADCYAP1R1_uc003tcg.3_Silent_p.S164S|ADCYAP1R1_uc003tce.2_Silent_p.S164S|ADCYAP1R1_uc003tcb.2_Silent_p.S143S|ADCYAP1R1_uc003tcc.2_Silent_p.S164S|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	164					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.S164S(4)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACAGCACATCCCTCGTCACCC	0.562000														89			13		0	0	0.000566183	0	0
TAP2	6891	broad.mit.edu	37	6	32782951	32782951	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32782951G>A	uc011dqf.1	-	12	2174	c.2052C>T	c.(2050-2052)acC>acT	p.T684T	TAP2_uc003oca.3_Silent_p.T77T|TAP2_uc011dqg.1_Silent_p.T77T	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GCCCCAGCTTGGTCAATGCCA	0.532000														58			13		0	0	0.000219431	0	0
C2orf78	388960	broad.mit.edu	37	2	74042632	74042632	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74042632C>T	uc002sjr.1	+	2	1403	c.1282C>T	c.(1282-1284)Caa>Taa	p.Q428*		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	428										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTTGAGGACCAAGGGATATT	0.473000														40			7		0	0	8.12818e-05	0	0
KCNJ6	3763	broad.mit.edu	37	21	39212969	39212969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:39212969C>T	uc011aej.1	-	1	69	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E6K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	6					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCATGGATTCTGTCAGCTTG	0.343000														417			59		0	0	0.000781405	0	0
MYOM1	8736	broad.mit.edu	37	18	3119871	3119871	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:3119871G>A	uc002klp.3	-	19	3448	c.3114C>T	c.(3112-3114)gtC>gtT	p.V1038V	MYOM1_uc002klq.3_Silent_p.V942V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1038						striated muscle myosin thick filament	structural constituent of muscle	p.A1037T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTACCTGGGACGGCGATGG	0.517000														34			5		0	0	0.000157383	0	0
WDR78	79819	broad.mit.edu	37	1	67356859	67356859	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:67356859C>T	uc001dcx.3	-	3	677	c.621G>A	c.(619-621)cgG>cgA	p.R207R	WDR78_uc001dcy.3_Silent_p.R207R|WDR78_uc009wax.3_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	207										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCAATCTTTCCCGTTTATAGG	0.338000														140			11		0	0	0.00185496	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197527	95197527	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:95197527C>T	uc003htb.4	+	14	2023	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	SMARCAD1_uc003htc.4_Silent_p.L616L|SMARCAD1_uc003htd.4_Silent_p.L616L|SMARCAD1_uc010ila.3_Silent_p.L479L|SMARCAD1_uc011cdw.2_Silent_p.L186L	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	616	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCGTAGTCTGTTTCGACG	0.398000														61			7		0	0	8.12818e-05	0	0
NCOA6	23054	broad.mit.edu	37	20	33364185	33364186	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33364185_33364186GG>AA	uc002xav.3	-	4	2872_2873	c.301_302CC>TT	c.(301-303)ccc>TTc	p.P101F	NCOA6_uc002xaw.3_Missense_Mutation_p.P101F|NCOA6_uc021wcd.1_Missense_Mutation_p.P101F|NCOA6_uc021wce.1_Missense_Mutation_p.P101F|NCOA6_uc021wcf.1_Missense_Mutation_p.P101F|NCOA6_uc010gew.1_Missense_Mutation_p.P101F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	101	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTTCCCGGGGGATGTTGAAT	0.465000														54			7		0	0	6.4e-05	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503929	140503929	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140503929G>A	uc003lip.1	+	0	2349	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAAGTTAAGGAAAACCCCA	0.448000														60			6		0	0	0.000157383	0	0
KRT18	3875	broad.mit.edu	37	12	53345291	53345291	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53345291T>G	uc001sbe.3	+	4	753	c.684T>G	c.(682-684)atT>atG	p.I228M	KRT18_uc009zmn.2_Missense_Mutation_p.I228M|KRT18_uc001sbg.3_Missense_Mutation_p.I228M|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	228	Linker 12.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAGCCCAGATTGCCAGCTCTG	0.552000														39			11		0	0	0.00185496	0	0
CD274	29126	broad.mit.edu	37	9	5456165	5456165	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:5456165G>A	uc003zje.3	+	2	160	c.52_splice	c.e2+1	p.A18_splice	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_Splice_Site_p.A18_splice|CD274_uc010mhn.3_Splice_Site|CD274_uc003zjf.3_Splice_Site_p.A18_splice	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	18					T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTTGCTGAACGGTAAGACACC	0.313000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									49			14		0	0	0.000422831	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772815	140772815	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140772815C>T	uc003lkd.2	+	0	1333	c.435C>T	c.(433-435)atC>atT	p.I145I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.I145I|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	145	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S145L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACGAAATCGCGGTTCCTG	0.438000														62			9		0	0	0.000442599	0	0
GLI2	2736	broad.mit.edu	37	2	121748187	121748187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:121748187G>A	uc010flp.3	+	12	4727	c.4697G>A	c.(4696-4698)gGg>gAg	p.G1566E	GLI2_uc002tmq.1_Missense_Mutation_p.G828R|GLI2_uc002tmr.1_Missense_Mutation_p.G811R|GLI2_uc002tmt.4_Missense_Mutation_p.G1238E|GLI2_uc002tmu.4_Missense_Mutation_p.G1221E	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1566					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGGCTGTCGGGGACATGAGC	0.642000														30			11		0	0	0.000673444	0	0
OR6C4	341418	broad.mit.edu	37	12	55945720	55945720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:55945720C>T	uc010spp.2	+	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAGGCCTTTTCCACTTGTTCC	0.438000														40			7		0	0	0.000274275	0	0
KLKB1	3818	broad.mit.edu	37	4	187155171	187155171	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187155171T>G	uc003iyy.3	+	3	358	c.287T>G	c.(286-288)gTt>gGt	p.V96G	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.V58G	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	96	Apple 1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAGGTGCAGTTTCTGGACAT	0.368000														74			8		0	0	0.000442599	0	0
APOB	338	broad.mit.edu	37	2	21234802	21234802	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21234802C>T	uc002red.3	-	25	5066	c.4938G>A	c.(4936-4938)agG>agA	p.R1646R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1646					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)	CTTGGCCAATCCTTAGTGTCG	0.473000														318			54		0	0	0.000781405	0	0
BRD2	6046	broad.mit.edu	37	6	32948364	32948364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32948364G>A	uc010juh.3	+	12	3684	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	BRD2_uc003ocn.4_Missense_Mutation_p.E759K|BRD2_uc003ocp.4_Missense_Mutation_p.E639K|BRD2_uc003ocq.4_Missense_Mutation_p.E759K|BRD2_uc021ywf.1_Missense_Mutation_p.E712K	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	759	ET.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGCAGCGAATGAGAAAACAGA	0.468000														57			6		0	0	0.000157383	0	0
CEACAM20	125931	broad.mit.edu	37	19	45029134	45029134	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:45029134C>T	uc010ejn.1	-	2	212	c.196_splice	c.e2+1	p.E66_splice	CEACAM20_uc010ejo.1_Splice_Site_p.E66_splice|CEACAM20_uc010ejp.1_Splice_Site_p.E66_splice|CEACAM20_uc010ejq.1_Splice_Site_p.E66_splice	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	66	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGCCCCTACCTCTGGATCTG	0.547000														141			40		0	0	0.00170553	0	0
USP13	8975	broad.mit.edu	37	3	179501868	179501868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:179501868C>T	uc003fkh.3	+	20	2612	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	844					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AAAGTTTGTGCCTCAGAAAGG	0.408000														131			25		0	0	0.000878237	0	0
HCAR3	8843	broad.mit.edu	37	12	123200397	123200397	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:123200397G>A	uc001ucy.4	-	0	1043	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	296						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	ATGGGCTGGAGAAGTAGTACA	0.527000														15			8		0	0	0.000157383	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396160	77396160	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77396160C>T	uc002ffc.4	-	7	1476	c.1057_splice	c.e7-1	p.G353_splice	ADAMTS18_uc010chc.1_Splice_Site|ADAMTS18_uc002ffe.1_Splice_Site_p.G49_splice|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	353	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G353E(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAATAATCCTCCCTATGGGAA	0.408000														40			7		0	0	0.000157383	0	0
C2orf71	388939	broad.mit.edu	37	2	29293946	29293946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29293946G>A	uc002rmt.2	-	0	3182	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1061	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment		p.P1060P(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCACTCTCGGGGGGAGGGTT	0.667000														49			6		0	0	8.12818e-05	0	0
LAMB1	3912	broad.mit.edu	37	7	107626521	107626521	+	Missense_Mutation	SNP	G	A	A	rs142924307		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107626521G>A	uc003vev.2	-	4	855	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	LAMB1_uc003vew.2_Missense_Mutation_p.R208C|LAMB1_uc003vex.3_Missense_Mutation_p.R208C|LAMB1_uc010ljn.1_Missense_Mutation_p.R294C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	208	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTAAAGCACGAAATATCACC	0.313000														58			9		0	0	0.000978159	0	0
VWF	7450	broad.mit.edu	37	12	6167151	6167151	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:6167151C>T	uc001qnn.1	-	13	1843	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q	VWF_uc010set.1_Silent_p.Q531Q	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	531	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTCGTCGCCCTGGTTGCCAT	0.662000														59			7		0	0	0.000274275	0	0
PDE1C	5137	broad.mit.edu	37	7	31862735	31862736	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31862735_31862736CC>TT	uc003tcm.2	-	13	1994_1995	c.1533_1534GG>AA	c.(1531-1536)acggaa>acAAaa	p.E512K	PDE1C_uc003tcn.1_Missense_Mutation_p.E512K|PDE1C_uc003tco.2_Missense_Mutation_p.E572K|PDE1C_uc003tcr.3_Missense_Mutation_p.E512K|PDE1C_uc003tcs.3_Missense_Mutation_p.E512K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	512	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T511T(3)|p.T511M(1)|p.T571T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCACCACTTCCGTCCAAGTAG	0.490000														71			16		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21231351	21231351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21231351C>T	uc002red.3	-	25	8517	c.8389G>A	c.(8389-8391)Gga>Aga	p.G2797R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2797					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)	TTGGACTCTCCTTTGGCAGTG	0.423000														314			40		0	0	0.00128727	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129384	3129384	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:3129384G>A	uc021vzx.1	-	0	333	c.333C>T	c.(331-333)tcC>tcT	p.S111S	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.S111S	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	111					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGTTTTCAAAGGAATCAAACA	0.468000														65			10		0	0	0.000978159	0	0
FCAR	2204	broad.mit.edu	37	19	55401079	55401079	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55401079C>T	uc002qhr.1	+	4	911	c.714C>T	c.(712-714)ctC>ctT	p.L238L	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L189L|FCAR_uc010esi.1_Silent_p.L115L|FCAR_uc002qhu.1_Silent_p.L142L|FCAR_uc002qhv.1_Silent_p.L216L|FCAR_uc002qhw.1_Silent_p.L226L|FCAR_uc002qhx.1_Silent_p.L130L|FCAR_uc002qhy.1_Silent_p.L204L|FCAR_uc002qhz.1_Missense_Mutation_p.R202C|FCAR_uc002qia.1_Silent_p.L129L	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	238					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.L238L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACTGGTCCTCGTGGCTCTCT	0.542000														241			41		0	0	0.00195071	0	0
MID2	11043	broad.mit.edu	37	X	107084244	107084245	+	Missense_Mutation	DNP	CC	TT	TT	rs35716955		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107084244_107084245CC>TT	uc004enl.3	+	1	922_923	c.349_350CC>TT	c.(349-351)cct>TTt	p.P117F	MID2_uc004enk.3_Missense_Mutation_p.P117F	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	117						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCCCAATTCCCCTAGTGAGAGC	0.569000														16			9		0	0	6.4e-05	0	0
C6orf10	10665	broad.mit.edu	37	6	32261670	32261670	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32261670C>T	uc021yvt.1	-	22	953	c.780G>A	c.(778-780)acG>acA	p.T260T	C6orf10_uc011dpx.2_Silent_p.T251T|C6orf10_uc021yvs.1_Silent_p.T177T|C6orf10_uc011dpz.2_Silent_p.T258T|C6orf10_uc021yvu.1_Silent_p.T258T|C6orf10_uc021yvv.1_Silent_p.T244T	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	260						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTACAGAATTCGTAAATATGA	0.393000														123			8		0	0	0.000274275	0	0
DDX50	79009	broad.mit.edu	37	10	70670972	70670972	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:70670972A>G	uc001jou.3	+	3	716	c.609A>G	c.(607-609)caA>caG	p.Q203Q	DDX50_uc001jot.3_Silent_p.Q203Q	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	203	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAAGAAATCAAGAAACAATTA	0.373000														145			12		0	0	0.00136819	0	0
CD163L1	283316	broad.mit.edu	37	12	7531880	7531880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7531880C>T	uc010sge.2	-	8	2121	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	CD163L1_uc001qsy.3_Missense_Mutation_p.E689K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	689	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCCTCAGCTCCATATCCGAT	0.448000														23			5		0	0	8.12818e-05	0	0
TMC3	342125	broad.mit.edu	37	15	81627299	81627299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:81627299C>T	uc021ssk.1	-	20	2221	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	741						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTGCTTTCTTCCTGGGTCTGG	0.537000														25			5		0	0	8.12818e-05	0	0
TOX2	84969	broad.mit.edu	37	20	42682992	42682992	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:42682992G>A	uc010ggo.3	+	4	745	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TOX2_uc002xle.4_Silent_p.P193P|TOX2_uc010ggp.3_Silent_p.P193P|TOX2_uc002xlf.4_Silent_p.P244P|TOX2_uc010zwk.2_Silent_p.P113P	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.V234M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCAAGAACCCGAAGAAGAAGA	0.542000														12			4		0	0	0.00024832	0	0
BDKRB1	623	broad.mit.edu	37	14	96731069	96731069	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:96731069C>T	uc021sbj.1	+	0	1050	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	BDKRB1_uc001yfh.3_Silent_p.F350F	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	350					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCAACTTTTCTGGCGGAATT	0.388000														122			9		0	0	0.000442599	0	0
TCRA	0	broad.mit.edu	37	14	22690134	22690134	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:22690134C>T	uc010ajo.1	+	0	47	c.9C>T	c.(7-9)atC>atT	p.I3I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajn.1_Silent_p.I31I					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 7.																		CTATGTTTATCCAGGAAGGAG	0.433000														13			4		0	0	0.00024832	0	0
UNC93A	54346	broad.mit.edu	37	6	167719430	167719430	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:167719430C>T	uc003qvq.3	+	5	1043	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	UNC93A_uc003qvr.3_Nonsense_Mutation_p.Q248*	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	290						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTGGGCATCCAGTTCGTCGG	0.612000														141			12		0	0	0.00136819	0	0
PRRT1	80863	broad.mit.edu	37	6	32118227	32118227	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32118227G>A	uc003nzu.3	-	3	418	c.153C>T	c.(151-153)gcC>gcT	p.A51A	PRRT1_uc003nzs.3_Missense_Mutation_p.P200L|PRRT1_uc003nzt.3_Missense_Mutation_p.P159L			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	159					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCCCCCCAGCGGCAGCGTGCC	0.756000														11			4		0	0	0.00116845	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470424	161470424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:161470424C>T	uc003qtn.3	+	2	1262	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	MAP3K4_uc010kkc.1_Missense_Mutation_p.L374F|MAP3K4_uc003qto.3_Missense_Mutation_p.L374F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	374					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATTGCAGGCTCTTCAGAAGGA	0.423000														45			5		0	0	0.00116845	0	0
NCF1B	654816	broad.mit.edu	37	7	72640033	72640033	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:72640033C>T	uc011ker.1	+	3	347	c.270C>T	c.(268-270)ctC>ctT	p.L90L	FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron					Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA.																		GTCCCCACCTCCTTGACTTCT	0.622000														20			9		0	0	0.000442599	0	0
BCORL1	63035	broad.mit.edu	37	X	129149395	129149396	+	Missense_Mutation	DNP	GG	AA	AA	rs138477961		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:129149395_129149396GG>AA	uc022cdu.1	+	2	2691_2692	c.2647_2648GG>AA	c.(2647-2649)gga>AAa	p.G883K	BCORL1_uc010nrd.1_Missense_Mutation_p.G785K	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	883					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.G883V(2)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGCCGTGCACGGACTTCCTGAG	0.604000														12			6		0	0	6.4e-05	0	0
AGFG2	3268	broad.mit.edu	37	7	100151107	100151107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100151107C>T	uc003uvf.3	+	3	705	c.569C>T	c.(568-570)gCc>gTc	p.A190V	AGFG2_uc003uvg.1_Intron	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	190					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGTTGCTGCCTCCACCTCG	0.552000														45			13		0	0	0.000219431	0	0
PTGFR	5737	broad.mit.edu	37	1	78958511	78958511	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:78958511T>C	uc001din.3	+	1	349	c.83T>C	c.(82-84)cTt>cCt	p.L28P	PTGFR_uc001dim.3_Missense_Mutation_p.L28P	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	28					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GAAAACCGGCTTTCCGTATTT	0.438000														88			7		0	0	8.12818e-05	0	0
FAM13C	220965	broad.mit.edu	37	10	61014160	61014160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:61014160C>T	uc010qif.1	-	10	1412	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q	FAM13C_uc010qid.2_Missense_Mutation_p.R344Q|FAM13C_uc001jkn.3_Missense_Mutation_p.R427Q|FAM13C_uc001jko.3_Missense_Mutation_p.R329Q|FAM13C_uc010qie.2_Missense_Mutation_p.R344Q|FAM13C_uc001jkp.3_Missense_Mutation_p.R344Q	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	427								p.E448K(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTCTGTATCGGTCATAAAG	0.353000														107			11		0	0	0.00136819	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558979	140558979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140558979C>T	uc011dai.2	+	0	1609	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	455					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCACCCAAACCTCCTACACC	0.607000														395			11		0	0	0.000422831	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648679	41648679	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:41648679C>T	uc003gvz.4	+	16	3006	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	LIMCH1_uc003gwe.4_Silent_p.S478S|LIMCH1_uc003gvu.4_Silent_p.S478S|LIMCH1_uc003gvv.4_Silent_p.S478S|LIMCH1_uc003gvw.4_Silent_p.S478S|LIMCH1_uc003gvx.4_Silent_p.S466S|LIMCH1_uc003gvy.4_Silent_p.S307S|LIMCH1_uc003gwa.4_Silent_p.S319S|LIMCH1_uc011byu.2_Silent_p.S312S|LIMCH1_uc003gwc.4_Silent_p.S324S|LIMCH1_uc003gwd.4_Silent_p.S312S|LIMCH1_uc011byv.2_Silent_p.S229S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	478					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATTTATCCTCCTTCCTGAATG	0.483000														176			38		0	0	0.00111076	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143726	55143726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:55143726C>T	uc002lgo.3	+	1	1318	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	429					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CAGAAGAAGTCCCGCCTGGTG	0.517000														31			4		0	0	0.00024832	0	0
LMO7	4008	broad.mit.edu	37	13	76408475	76408475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:76408475C>T	uc021rkq.1	+	16	3513	c.3178C>T	c.(3178-3180)Caa>Taa	p.Q1060*	LMO7_uc010thv.2_Nonsense_Mutation_p.Q778*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q726*|LMO7_uc001vjv.3_Nonsense_Mutation_p.Q827*|LMO7_uc010thw.2_Nonsense_Mutation_p.Q677*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q733*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1112	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCTAAGGCTCAAGAAACTGG	0.433000														61			6		0	0	0.000157383	0	0
ELF5	2001	broad.mit.edu	37	11	34502435	34502435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:34502435C>T	uc001mvo.1	-	5	815	c.585G>A	c.(583-585)tgG>tgA	p.W195*	ELF5_uc021qft.1_Nonsense_Mutation_p.W117*|ELF5_uc001mvp.2_Nonsense_Mutation_p.W185*|ELF5_uc009ykd.2_Nonsense_Mutation_p.W90*	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	195					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCCTATCTTCCCATTCCAGAA	0.418000														69			9		0	0	0.000442599	0	0
MX2	4600	broad.mit.edu	37	21	42775241	42775241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:42775241G>A	uc002yzf.1	+	11	1725	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	MX2_uc002yzg.1_Missense_Mutation_p.E264K|MX2_uc010gop.1_Missense_Mutation_p.E23K	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	541					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACATTTTGGCGAATTTTTCAA	0.383000														53			6		0	0	0.000274275	0	0
KCNMA1	3778	broad.mit.edu	37	10	78649263	78649263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:78649263C>T	uc001jxn.3	-	26	3584	c.3407G>A	c.(3406-3408)gGa>gAa	p.G1136E	KCNMA1_uc021ptu.1_Missense_Mutation_p.G1028E|KCNMA1_uc001jxj.2_Missense_Mutation_p.G1082E|KCNMA1_uc001jxk.1_Missense_Mutation_p.G754E|KCNMA1_uc009xrt.1_Missense_Mutation_p.G927E|KCNMA1_uc001jxl.1_Missense_Mutation_p.G761E|KCNMA1_uc001jxo.3_Missense_Mutation_p.G1119E|KCNMA1_uc001jxm.3_Missense_Mutation_p.G1078E|KCNMA1_uc001jxq.3_Missense_Mutation_p.G1108E|BC030624_uc001jxp.3_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1136					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGTAAATTCCAAAACAAAG	0.443000														45			6		0	0	8.12818e-05	0	0
C19orf57	79173	broad.mit.edu	37	19	13993681	13993681	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:13993681G>A	uc002mxl.1	-	7	1907	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	C19orf57_uc002mxk.1_Silent_p.P529P	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	647					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTAAGGCAGGGGGGCTTTGC	0.597000														62			10		0	0	0.000978159	0	0
TBX15	6913	broad.mit.edu	37	1	119467332	119467332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:119467332C>T	uc001ehl.1	-	3	627	c.312G>A	c.(310-312)atG>atA	p.M104I		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCACCTGTCTCATCCAGGTGT	0.463000														108			16		0	0	0.000566183	0	0
MTPAP	55149	broad.mit.edu	37	10	30629251	30629251	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30629251C>T	uc001iva.4	-	2	522	c.459G>A	c.(457-459)ttG>ttA	p.L153L	MTPAP_uc001ivb.4_Silent_p.L283L|MTPAP_uc001ivc.2_Silent_p.L153L	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	153					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTGGTTTTTCAACTTCAGAT	0.423000														101			9		0	0	0.000673444	0	0
GPC4	2239	broad.mit.edu	37	X	132439917	132439917	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:132439917G>A	uc004exc.1	-	5	1250	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	GPC4_uc011mvg.1_Silent_p.P276P	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	346					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGCTGGGAGGGGCTTGGGGG	0.592000														66			32		0	0	0.00148497	0	0
ACAN	176	broad.mit.edu	37	15	89400784	89400784	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89400784C>T	uc010upo.1	+	11	5342	c.4968C>T	c.(4966-4968)ttC>ttT	p.F1656F	ACAN_uc010upp.1_Silent_p.F1656F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1656					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CATCTGGATTCCCAACTGTTT	0.537000														102			11		0	0	0.00185496	0	0
C8A	731	broad.mit.edu	37	1	57372418	57372418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57372418G>A	uc001cyo.2	+	7	1307	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	392	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGTTGGTGGAGGTTTATCA	0.413000														68			18		0	0	0.000958276	0	0
PYROXD2	84795	broad.mit.edu	37	10	100143598	100143598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:100143598C>T	uc001kpc.3	-	15	1789	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	568							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCTGCATTTCGCCCAGCAGC	0.567000														86			10		0	0	0.00136819	0	0
ISX	91464	broad.mit.edu	37	22	35463173	35463173	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:35463173C>T	uc003anj.3	+	0	1044	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	31						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCTGTCCTTCTCCATTGAGG	0.607000														9			4		0	0	0.00024832	0	0
CYYR1	116159	broad.mit.edu	37	21	27852613	27852613	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:27852613G>A	uc002yme.3	-	2	634	c.312C>T	c.(310-312)atC>atT	p.I104I	CYYR1_uc002ymd.3_Silent_p.I104I|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	104						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGACGGTGTTGATGTGAGTCG	0.502000														48			7		0	0	0.000274275	0	0
ATP8A2	51761	broad.mit.edu	37	13	26145762	26145762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:26145762G>A	uc001uqk.3	+	17	1736	c.1594G>A	c.(1594-1596)Gtg>Atg	p.V532M	ATP8A2_uc010tdi.2_Missense_Mutation_p.V492M|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.V42M|ATP8A2_uc001uql.1_Missense_Mutation_p.V492M	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	492					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCTGCTTTGGTGAAAGGAGC	0.413000														78			10		0	0	0.000673444	0	0
MAP3K3	4215	broad.mit.edu	37	17	61759136	61759137	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:61759136_61759137CC>TT	uc002jbg.3	+	6	832_833	c.513_514CC>TT	c.(511-516)aaccct>aaTTct	p.P172S	MAP3K3_uc002jbe.3_Missense_Mutation_p.P203S|MAP3K3_uc002jbf.3_Missense_Mutation_p.P203S|MAP3K3_uc002jbh.3_Missense_Mutation_p.P203S|MAP3K3_uc010wpo.2_Missense_Mutation_p.P87S|MAP3K3_uc010wpp.2_Missense_Mutation_p.P172S	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	172					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTCCCAGAACCCTGGCCGAAG	0.594000														61			11		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9067238	9067238	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9067238G>A	uc002mkp.3	-	2	20412	c.20208C>T	c.(20206-20208)atC>atT	p.I6736I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6738	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I6735T(2)|p.I6735I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTTCGAGTGATGATGGTCA	0.512000														135			25		0	0	0.000339439	0	0
FAM59A	64762	broad.mit.edu	37	18	29847906	29847906	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:29847906C>T	uc002kxl.3	-	5	2615	c.2559G>A	c.(2557-2559)gaG>gaA	p.E853E	FAM59A_uc002kxk.2_Silent_p.E852E	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	853	SAM.							p.E852D(2)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						ATTTGAAATCCTCTGAGAGGA	0.413000														45			4		0	0	0.00024832	0	0
MEP1B	4225	broad.mit.edu	37	18	29795177	29795177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:29795177G>A	uc002kxj.4	+	11	1759	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	571	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGAAAAGCAGAGATTTTATA	0.373000														55			11		0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13721327	13721327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13721327C>T	uc003jfd.2	-	70	12103	c.12061G>A	c.(12061-12063)Gga>Aga	p.G4021R	DNAH5_uc003jfc.2_Missense_Mutation_p.G189R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4021	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTTTCTCCCATGGAGTCC	0.453000									Kartagener syndrome					40			5		0	0	0.000602214	0	0
NBEA	26960	broad.mit.edu	37	13	35615209	35615209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:35615209G>A	uc021rid.1	+	1	968	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	NBEA_uc021ric.1_Missense_Mutation_p.R145Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	145						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATTCTACGAAAAAGTGTT	0.408000														49			9		0	0	0.000274275	0	0
LAMA2	3908	broad.mit.edu	37	6	129785560	129785560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129785560C>T	uc021zfb.1	+	49	7223	c.7118C>T	c.(7117-7119)tCg>tTg	p.S2373L	LAMA2_uc003qbn.3_Missense_Mutation_p.S2371L|LAMA2_uc003qbo.3_Missense_Mutation_p.S2371L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2373	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S2373T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATTTTCTTCGAGTGCTCTT	0.423000														39			18		0	0	0.000375601	0	0
QRFPR	84109	broad.mit.edu	37	4	122301463	122301463	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:122301463C>T	uc010inj.1	-	1	719	c.340_splice	c.e1+1	p.G114_splice	QRFPR_uc010ink.1_Splice_Site|QRFPR_uc003ids.2_Splice_Site_p.G114_splice|QRFPR_uc010inl.1_Splice_Site_p.G114_splice	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	114						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGACTCTTACCCCCCAGCCAG	0.542000														34			7		0	0	8.12818e-05	0	0
GPR112	139378	broad.mit.edu	37	X	135469917	135469917	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:135469917C>G	uc004ezu.1	+	15	8086	c.7795C>G	c.(7795-7797)Cct>Gct	p.P2599A	GPR112_uc010nsb.1_Missense_Mutation_p.P2394A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2599					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGCAATGTCCCTGTGGGAGG	0.433000														37			10		0	0	0.000673444	0	0
AADAC	13	broad.mit.edu	37	3	151531964	151531964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151531964C>T	uc003eze.3	+	0	104	c.14C>T	c.(13-15)tCg>tTg	p.S5L	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	5					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S5S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGAAGAAAATCGCTGTACCTT	0.423000														110			9		0	0	0.000978159	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:3443759G>A	uc022aqr.1	-	8	1511	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000														26			6		0	0	8.12818e-05	0	0
SHANK2	22941	broad.mit.edu	37	11	70319071	70319071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:70319071G>A	uc001oqc.3	-	21	5367	c.5255C>T	c.(5254-5256)cCa>cTa	p.P1752L	SHANK2_uc010rqn.2_Missense_Mutation_p.P1228L|SHANK2_uc001opz.3_Missense_Mutation_p.P1223L|BC127192_uc009ysn.1_5'UTR|SHANK2_uc001opy.3_Missense_Mutation_p.P154L|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1439					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGCAGGTTTGGTAAGTGACT	0.483000														160			18		0	0	0.00074312	0	0
DOPEY1	23033	broad.mit.edu	37	6	83863287	83863287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:83863287C>T	uc011dyy.2	+	30	6420	c.6160C>T	c.(6160-6162)Cct>Tct	p.P2054S	DOPEY1_uc003pjs.1_Missense_Mutation_p.P2063S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P2054S|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2063					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCGGGTTATTCCTTTACTTGT	0.303000														139			15		0	0	0.000422831	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518307	113518307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:113518307G>A	uc010ljy.1	-	3	2871	c.2840C>T	c.(2839-2841)tCt>tTt	p.S947F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	947					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGATTTCGTAGAAATAGGTTG	0.378000														32			5		0	0	8.12818e-05	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878892	48878892	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48878892C>T	uc002piz.3	+	3	605	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	118	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTGTCTGGTTCATGGGTTTCT	0.602000														48			7		0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9048281	9048281	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9048281G>T	uc002mkp.3	-	4	33554	c.33350C>A	c.(33349-33351)aCt>aAt	p.T11117N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGAAAGAGTTAGAATTGG	0.507000														27			6		2.0095e-06	1.04198e-05	8.12818e-05	1	0
UMOD	7369	broad.mit.edu	37	16	20357650	20357650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20357650G>A	uc002dhb.3	-	5	1208	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	UMOD_uc002dgz.3_Missense_Mutation_p.S327F|UMOD_uc002dha.3_Missense_Mutation_p.S327F	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	327	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCCAGGAGGGAGATATCTGA	0.582000														51			10		0	0	0.000219431	0	0
CCDC116	164592	broad.mit.edu	37	22	21989370	21989370	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:21989370T>C	uc002zve.3	+	3	1111	c.1018T>C	c.(1018-1020)Ttg>Ctg	p.L340L	CCDC116_uc011aih.1_Silent_p.L340L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	340										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCCACCAGCTTGGAGCCCAC	0.677000														30			9		0	0	0.00136819	0	0
GRIA4	2893	broad.mit.edu	37	11	105623907	105623907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:105623907G>A	uc001pix.2	+	3	894	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	GRIA4_uc001piu.1_Missense_Mutation_p.E150K|GRIA4_uc001piw.2_Missense_Mutation_p.E150K|GRIA4_uc001piv.3_Missense_Mutation_p.E150K|GRIA4_uc009yxk.1_Missense_Mutation_p.E150K	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	150					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGATCACTACGAATGGAACTG	0.443000														58			6		0	0	0.00116845	0	0
LRRC7	57554	broad.mit.edu	37	1	70509680	70509680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:70509680C>T	uc001dep.3	+	19	3929	c.3899C>T	c.(3898-3900)cCc>cTc	p.P1300L	LRRC7_uc009wbg.3_Missense_Mutation_p.P584L|LRRC7_uc001deq.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1300						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGCATGCTGCCCTATGGAGGT	0.398000														36			6		0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	3256953	3256953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:3256953C>T	uc022aqr.1	-	15	2755	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	CSMD1_uc011kwj.2_Missense_Mutation_p.E182K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	790	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTTTGCTTCAATTATCCAT	0.408000														90			10		0	0	0.000673444	0	0
SLC6A2	6530	broad.mit.edu	37	16	55703514	55703514	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:55703514C>T	uc021tio.1	+	1	363	c.312C>T	c.(310-312)atC>atT	p.I104I	SLC6A2_uc002eif.3_Silent_p.I104I|SLC6A2_uc002eig.3_Silent_p.I104I|SLC6A2_uc002eii.3_5'Flank	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	104					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCTTATCATCGCGGGGATGC	0.572000														45			8		0	0	0.000157383	0	0
AMPD3	272	broad.mit.edu	37	11	10514899	10514899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:10514899G>A	uc001min.1	+	6	1315	c.970G>A	c.(970-972)Gac>Aac	p.D324N	AMPD3_uc010rbz.1_Missense_Mutation_p.D156N|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.D315N|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.D322N|AMPD3_uc009yfy.2_Missense_Mutation_p.D315N	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	315			M -> T (in AMPDDE).		AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTTCCAGGTGGACACACACAT	0.572000														109			15		0	0	0.00121646	0	0
FAM83H	286077	broad.mit.edu	37	8	144808726	144808726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:144808726G>A	uc003yzk.3	-	4	2974	c.2905C>T	c.(2905-2907)Ctt>Ttt	p.L969F		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	969					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCTGCCTAAGACGCAAGGAG	0.701000														21			6		0	0	0.000157383	0	0
CHODL	140578	broad.mit.edu	37	21	19629128	19629128	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:19629128C>A	uc002ykv.3	+	1	773	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	CHODL_uc002ykr.3_Missense_Mutation_p.Q87K|CHODL_uc002yks.3_Missense_Mutation_p.Q87K|CHODL_uc021whr.1_Missense_Mutation_p.Q87K|CHODL_uc002ykt.3_Missense_Mutation_p.Q87K|CHODL_uc002yku.3_Missense_Mutation_p.Q87K|CHODL_uc021whs.1_Missense_Mutation_p.Q109K	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	128	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AAGCAATTCCCAGTACCGGTG	0.507000														27			8		2.17888e-05	0.000112792	0.000442599	1	0
SUSD4	55061	broad.mit.edu	37	1	223442007	223442007	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:223442007G>A	uc001hnx.3	-	2	1006	c.372C>T	c.(370-372)atC>atT	p.I124I	SUSD4_uc001hny.4_Silent_p.I124I|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.I124I|SUSD4_uc010pux.1_Silent_p.I53I	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	124	Sushi 2.					integral to membrane		p.R123H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGATTTGAGGGATACGGCAAT	0.388000														82			13		0	0	0.000566183	0	0
CLEC5A	23601	broad.mit.edu	37	7	141630000	141630000	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141630000C>T	uc003vwv.1	-	6	668	c.471G>A	c.(469-471)caG>caA	p.Q157Q	CLEC5A_uc011krm.1_Missense_Mutation_p.R133K|CLEC5A_uc003vww.1_Silent_p.Q156Q|CLEC5A_uc010lnq.1_Silent_p.Q134Q|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	157	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AGTTGAAATTCTGATTCTGAT	0.398000														66			18		0	0	0.00152264	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263918	12263918	+	Silent	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:12263918T>A	uc011jxk.2	+	4	748	c.348T>A	c.(346-348)ctT>ctA	p.L116L	TMEM106B_uc003ssh.3_Silent_p.L116L	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	Homo sapiens transmembrane protein 106B (TMEM106B), transcript variant 1, mRNA.	116						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTTTTTCCTTTTCCCTCGCT	0.378000														184			14		0	0	0.00185496	0	0
ALK	238	broad.mit.edu	37	2	29940525	29940525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29940525G>A	uc002rmy.3	-	1	1658	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	236					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCAGGAGAAGGAGAAGGCATG	0.403000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					57			8		0	0	0.000274275	0	0
LCT	3938	broad.mit.edu	37	2	136570170	136570170	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:136570170G>A	uc002tuu.1	-	6	2075	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	688	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGATGAGGCGGGAGGTGTAAT	0.552000														37			8		0	0	0.000157383	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27788289	27788290	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:27788289_27788290GG>TT	uc003szl.3	+	1	328_329	c.146_147GG>TT	c.(145-147)tgg>tTT	p.W49F	TAX1BP1_uc011jzo.2_Missense_Mutation_p.W49F|TAX1BP1_uc003szk.3_Missense_Mutation_p.W49F|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	49					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CCAAAAGATTGGGTTGGTATAT	0.342000														381			10		0	0	6.4e-05	0	0
PODXL	5420	broad.mit.edu	37	7	131195648	131195648	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:131195648A>G	uc003vqw.4	-	1	903	c.645T>C	c.(643-645)agT>agC	p.S215S	PODXL_uc003vqx.4_Silent_p.S215S	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	215	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CAGTGCTTGAACTGCTTGAAA	0.517000														47			7		0	0	0.000157383	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893125	44893126	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44893125_44893126GG>AA	uc003beu.1	-	1	648_649	c.311_312CC>TT	c.(310-312)ccc>cTT	p.P104L	LDOC1L_uc021wrd.1_Missense_Mutation_p.P104L	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	104										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCCCGGAAAAGGGCTCGGGCAG	0.639000														20			12		0	0	6.4e-05	0	0
PSMB2	5690	broad.mit.edu	37	1	36074989	36074989	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:36074989G>A	uc001bzd.2	-	3	718	c.306C>T	c.(304-306)ctC>ctT	p.L102L	PSMB2_uc021olh.1_5'UTR|PSMB2_uc010ohz.2_Silent_p.L77L|PSMB2_uc001bzf.2_Silent_p.L102L	NM_002794	NP_002785	P49721	PSB2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 1, mRNA.	102					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	CAGCCAGGAGGAGGTTCACAT	0.493000														86			5		0	0	0.00116845	0	0
ARSF	416	broad.mit.edu	37	X	3028290	3028290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3028290G>A	uc022brz.1	+	9	1523	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	ARSF_uc004cre.2_Missense_Mutation_p.D463N|ARSF_uc004crf.2_Missense_Mutation_p.D463N	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	463						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCAAGGACGACAGTGAGTG	0.572000														25			10		0	0	0.00185496	0	0
FADS6	283985	broad.mit.edu	37	17	72878830	72878830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:72878830G>A	uc002jmd.1	-	2	380	c.368C>T	c.(367-369)gCc>gTc	p.A123V	FADS6_uc010wrn.1_Missense_Mutation_p.P40S	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	129					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCAGTGAAGGCTGTGCACAC	0.612000														12			4		0	0	0.00024832	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762066	130762066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:130762066G>A	uc003qcb.3	+	1	2877	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TMEM200A_uc003qca.3_Missense_Mutation_p.V167I|TMEM200A_uc010kfh.3_Missense_Mutation_p.V167I|TMEM200A_uc010kfi.3_Missense_Mutation_p.V167I|TMEM200A_uc021zfg.1_Missense_Mutation_p.V167I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	167						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTATTCCACAGTCATTGACAT	0.408000														41			9		0	0	0.000673444	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984747	90984747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:90984747C>T	uc002bpl.1	+	7	760	c.659C>T	c.(658-660)gCt>gTt	p.A220V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	220					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTACATGCTGCTGTTATTGCT	0.353000														70			8		0	0	0.000673444	0	0
CXorf23	256643	broad.mit.edu	37	X	19984628	19984628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:19984628G>A	uc004czp.3	-	1	181	c.181C>T	c.(181-183)Cca>Tca	p.P61S	CXorf23_uc011mjg.2_5'Flank|CXorf23_uc004czo.3_Missense_Mutation_p.P11S	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	61						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GGAATCCTTGGTTTACTCTGT	0.393000														65			30		0	0	0.00111076	0	0
VWA3B	200403	broad.mit.edu	37	2	98809361	98809361	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:98809361G>A	uc002syo.3	+	11	1731	c.1467_splice	c.e11-1	p.R489_splice	VWA3B_uc010yvh.2_Splice_Site_p.R339_splice|VWA3B_uc002syj.3_Splice_Site|VWA3B_uc002syk.1_Splice_Site|VWA3B_uc002syl.1_Splice_Site_p.R8_splice|VWA3B_uc002sym.3_Splice_Site_p.R489_splice|VWA3B_uc002syn.1_Splice_Site|VWA3B_uc010yvi.1_Splice_Site_p.R146_splice|VWA3B_uc002syp.1_Splice_Site	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	489										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTGCCTAGGATTAAATGGC	0.458000														89			11		0	0	0.000219431	0	0
CDHR3	222256	broad.mit.edu	37	7	105662885	105662885	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:105662885G>A	uc003vdl.4	+	13	2175	c.2067G>A	c.(2065-2067)acG>acA	p.T689T	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Silent_p.T676T|CDHR3_uc011klt.2_Silent_p.T601T|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	689	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCATCACCACGACCCCCAGGG	0.517000														127			16		0	0	0.000375601	0	0
OR51A4	401666	broad.mit.edu	37	11	4967879	4967879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4967879G>A	uc010qys.2	-	0	452	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTAAAGGAGAATACTAT	0.423000														99			11		0	0	0.000958276	0	0
PRR5L	79899	broad.mit.edu	37	11	36422691	36422691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:36422691C>T	uc001mwo.4	+	1	409	c.20C>T	c.(19-21)cCc>cTc	p.P7L	PRR5L_uc001mwp.3_Missense_Mutation_p.P7L|PRR5L_uc009ykk.3_Intron|PRR5L_uc010rfc.2_Missense_Mutation_p.P7L	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	7										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GGCTTCGCTCCCATTCTGCCC	0.612000														30			5		0	0	0.00116845	0	0
KRT2	3849	broad.mit.edu	37	12	53044161	53044161	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53044161C>T	uc001sat.3	-	1	795	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	254	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCATGTTATTCAGCTCTGAAT	0.473000														100			23		0	0	0.000720815	0	0
PSG7	5676	broad.mit.edu	37	19	43430007	43430007	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43430007C>T	uc002ovl.4	-	5	1260	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.K265K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	387	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.483000														145			11		0	0	0.000978159	0	0
METTL9	51108	broad.mit.edu	37	16	21666694	21666694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:21666694G>A	uc002dje.3	+	4	1097	c.898G>A	c.(898-900)Gac>Aac	p.D300N	LOC23117_uc021tel.1_Intron|METTL9_uc002djf.3_Missense_Mutation_p.D299N|IGSF6_uc002djg.2_5'Flank|IGSF6_uc010vbi.2_5'Flank	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	Homo sapiens methyltransferase like 9 (METTL9), transcript variant 1, mRNA.	300										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GTGTGAAGGCGACATGTATAA	0.458000														63			12		0	0	0.000308642	0	0
OR8D4	338662	broad.mit.edu	37	11	123777424	123777424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123777424G>A	uc010saa.2	+	0	286	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCCTATTCTGGATGCATGAT	0.428000														165			28		0	0	0.000953801	0	0
ALMS1	7840	broad.mit.edu	37	2	73799601	73799601	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:73799601C>T	uc002sje.1	+	15	10705	c.10594C>T	c.(10594-10596)Caa>Taa	p.Q3532*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q3490*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.Q2920*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q2920*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3532					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTTCCTTATCAAAACATGGA	0.363000														29			9		0	0	0.000274275	0	0
UNC13C	440279	broad.mit.edu	37	15	54306082	54306082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54306082G>A	uc021smr.1	+	0	982	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	UNC13C_uc021sms.1_Missense_Mutation_p.E328K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	328					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATGTGACTGAAGAAAGATT	0.358000														50			9		0	0	0.000274275	0	0
FRYL	285527	broad.mit.edu	37	4	48550779	48550779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:48550779G>A	uc003gyh.1	-	39	5421	c.4816C>T	c.(4816-4818)Ctc>Ttc	p.L1606F	FRYL_uc003gyg.1_Missense_Mutation_p.L302F|FRYL_uc003gyi.1_Missense_Mutation_p.L495F|FRYL_uc003gyj.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1606					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAATGATGAGATCAGTCAAA	0.338000														76			7		0	0	0.000157383	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174749	150174749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150174749G>A	uc003whj.3	+	4	2209	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	627						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCTGAGAAAAGAAAGTGGGTG	0.443000														94			16		0	0	0.000566183	0	0
AIM1	202	broad.mit.edu	37	6	107003692	107003692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:107003692G>A	uc003prh.3	+	14	5323	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	AIM1_uc003pri.3_Missense_Mutation_p.E275K	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1471	Beta/gamma crystallin 'Greek key' 10.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATACGTGTTGGAAGAAGGCCA	0.413000														119			12		0	0	0.000978159	0	0
OR52A1	23538	broad.mit.edu	37	11	5173466	5173466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5173466G>A	uc010qyy.2	-	0	134	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	45					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGCAAGGAATTTCCAAT	0.468000														51			7		0	0	0.000157383	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568150	140568150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140568150C>T	uc003liw.1	+	1	1256	c.1256C>T	c.(1255-1257)aCc>aTc	p.T419I		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAACATCACCATCACCGTC	0.498000														61			11		0	0	0.000978159	0	0
XKR5	389610	broad.mit.edu	37	8	6679433	6679433	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:6679433G>A	uc022aqv.1	-	4	916	c.765C>T	c.(763-765)ttC>ttT	p.F255F	XKR5_uc003wqq.3_Silent_p.F92F	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	255						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGCTGTCCCAGAAGCTGAGGT	0.522000														15			4		0	0	0.00024832	0	0
TRAF7	84231	broad.mit.edu	37	16	2226162	2226162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:2226162C>T	uc002cow.3	+	18	1958	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	620					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TTCAGTGCATCCTACGACCGG	0.682000														20			5		0	0	8.12818e-05	0	0
AGL	178	broad.mit.edu	37	1	100340293	100340293	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:100340293C>T	uc001dsi.1	+	7	1409	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	AGL_uc001dsj.1_Nonsense_Mutation_p.Q337*|AGL_uc001dsk.1_Nonsense_Mutation_p.Q337*|AGL_uc001dsl.1_Nonsense_Mutation_p.Q337*|AGL_uc001dsm.1_Nonsense_Mutation_p.Q321*|AGL_uc001dsn.1_Nonsense_Mutation_p.Q320*	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	337					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TACGATTATTCAAGATCCTGA	0.348000														63			7		0	0	8.12818e-05	0	0
OR13J1	392309	broad.mit.edu	37	9	35870314	35870314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:35870314G>A	uc011lph.2	-	0	85	c.85C>T	c.(85-87)Cct>Tct	p.P29S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GAGCACAGAGGGAAGAGCAGA	0.552000														23			6		0	0	0.000157383	0	0
ERBB4	2066	broad.mit.edu	37	2	212252714	212252714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:212252714C>T	uc002veg.1	-	25	3237	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	ERBB4_uc002veh.1_Intron|ERBB4_uc010zji.1_Missense_Mutation_p.E1037K|ERBB4_uc010zjj.1_Intron	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1047					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTCCAATTTCACTCTAATAG	0.368000										TSP Lung(8;0.080)				126			14		0	0	0.000308642	0	0
COL6A2	1292	broad.mit.edu	37	21	47545947	47545947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:47545947G>A	uc002zia.1	+	25	2300	c.2218G>A	c.(2218-2220)Gat>Aat	p.D740N	COL6A2_uc002zhz.1_Missense_Mutation_p.D740N|COL6A2_uc002zhy.1_Missense_Mutation_p.D740N|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	740	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCTCGGGACGATGACCTCAA	0.617000														40			7		0	0	8.12818e-05	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023356	52023356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52023356C>T	uc002pwy.3	-	7	1550	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E432K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E396K|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	448					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATCTTGATTTCTGAGTACTCA	0.488000														91			8		0	0	0.000274275	0	0
MIP	4284	broad.mit.edu	37	12	56848193	56848193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:56848193G>A	uc001slh.3	-	0	243	c.205C>T	c.(205-207)Cct>Tct	p.P69S		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	69					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTGACTGCAGGATTGACGTGG	0.607000														28			16		0	0	0.00074312	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262419	7262419	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:7262419G>A	uc009xio.2	-	10	1375	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	SFMBT2_uc001ijn.2_Silent_p.A428A|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	428					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCACAACGGAGGCCACACACA	0.517000														90			10		0	0	0.000978159	0	0
ZNF257	113835	broad.mit.edu	37	19	22255736	22255736	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22255736G>A	uc010ecx.3	+	2	299	c.130_splice	c.e2+1	p.G44_splice	ZNF257_uc010ecy.3_Splice_Site_p.G12_splice	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGGTCTTCCTGGGTGAGGATA	0.353000														95			6		0	0	0.000157383	0	0
TEKT1	83659	broad.mit.edu	37	17	6718591	6718592	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:6718591_6718592CC>TT	uc002gdt.3	-	4	629_630	c.519_520GG>AA	c.(517-522)aaggat>aaAAat	p.D174N	TEKT1_uc010vth.2_Missense_Mutation_p.D28N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	174					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTTCAAATCCTTCTCAAGAT	0.490000														80			16		0	0	6.4e-05	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174815	11174815	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11174815A>G	uc010shj.2	-	0	356	c.356T>C	c.(355-357)cTc>cCc	p.L119P	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	Homo sapiens taste receptor, type 2, member 19 (TAS2R19), mRNA.	119					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTTTAGGTGGAGAGAAATAAG	0.423000														57			5		0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13823400	13823400	+	Missense_Mutation	SNP	G	A	A	rs144308691		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13823400G>A	uc003jfd.2	-	39	6701	c.6659C>T	c.(6658-6660)cCt>cTt	p.P2220L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2220					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2220T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCAGTTCAGGGTAACCTGC	0.403000									Kartagener syndrome					140			25		0	0	0.000720815	0	0
MXRA5	25878	broad.mit.edu	37	X	3228260	3228260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3228260G>A	uc004crg.4	-	6	8141	c.7984C>T	c.(7984-7986)Ccc>Tcc	p.P2662S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2662	Ig-like C2-type 11.					extracellular region		p.P2661F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAGCCCCGGGAGGGGTGCAG	0.592000														19			12		0	0	0.00185496	0	0
PTK6	5753	broad.mit.edu	37	20	62164989	62164989	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62164989C>T	uc002yfg.3	-	3	625	c.585G>A	c.(583-585)agG>agA	p.R195R	PTK6_uc011aay.2_Silent_p.R94R|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	195	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCCCAGCTTCCTGCAGAGCG	0.642000														55			8		0	0	0.000673444	0	0
HDC	3067	broad.mit.edu	37	15	50534864	50534864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:50534864G>A	uc001zxz.3	-	11	1924	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	HDC_uc001zxy.3_Missense_Mutation_p.R271C|HDC_uc010uff.2_Missense_Mutation_p.R495C	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	528					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCTCCCACACGCTGAGGCTGC	0.582000														22			6		0	0	0.000157383	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276476	153276476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:153276476G>A	uc001fbn.1	-	3	439	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	129					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCAGGGCTGGGACTGCTGCC	0.507000														36			15		0	0	0.000566183	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762403	24762403	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:24762403A>C	uc001iru.4	+	5	1496	c.1093A>C	c.(1093-1095)Agc>Cgc	p.S365R	KIAA1217_uc001irs.3_Missense_Mutation_p.S285R|KIAA1217_uc001irt.4_Missense_Mutation_p.S365R|KIAA1217_uc010qcy.2_Missense_Mutation_p.S365R|KIAA1217_uc010qcz.2_Missense_Mutation_p.S365R|KIAA1217_uc001irv.1_Missense_Mutation_p.S215R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.S83R|KIAA1217_uc001irz.3_Missense_Mutation_p.S83R|KIAA1217_uc001irx.3_Missense_Mutation_p.S83R|KIAA1217_uc001iry.3_Missense_Mutation_p.S83R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	365					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAAGCCCAAGCGCCATTTT	0.502000														51			8		0	0	0.000274275	0	0
DOCK2	1794	broad.mit.edu	37	5	169143223	169143223	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:169143223C>T	uc003maf.3	+	19	2028	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Nonsense_Mutation_p.Q142*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	650	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGTTTCTCCAGGATACTCT	0.418000														61			7		0	0	0.000274275	0	0
ZNF646	9726	broad.mit.edu	37	16	31089712	31089712	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:31089712C>T	uc002eap.3	+	1	2356	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	ZNF646_uc021tgu.1_Silent_p.L689L	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AAGCCAAACTCCTGGCAGCGG	0.647000														43			7		0	0	0.000274275	0	0
UPK1A	11045	broad.mit.edu	37	19	36166864	36166864	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36166864C>T	uc010eeh.3	+	4	591	c.591C>T	c.(589-591)ttC>ttT	p.F197F	UPK1A_uc002oaw.3_Silent_p.F197F|BC007817_uc002oax.1_5'Flank			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	197					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGAAACTTCATCCCCCTCA	0.637000														32			11		0	0	0.000219431	0	0
SCN9A	6335	broad.mit.edu	37	2	167141201	167141201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:167141201C>T	uc010fpl.3	-	11	2077	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.G450E|SCN9A_uc002uds.1_Missense_Mutation_p.G450E|SCN9A_uc002udt.1_Missense_Mutation_p.G450E	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	579						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G579V(2)|p.G579*(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCATTGTCTCCAAAAATGCT	0.507000														35			6		0	0	0.00116845	0	0
PKHD1	5314	broad.mit.edu	37	6	51512847	51512847	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:51512847A>C	uc003pah.1	-	62	11656	c.11380T>G	c.(11380-11382)Tca>Gca	p.S3794A		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3794					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	p.A3793T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTGAGTCTGATGCTCCTTCC	0.428000														99			14		0	0	0.000308642	0	0
OR8D2	283160	broad.mit.edu	37	11	124189785	124189785	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124189785G>A	uc010sah.2	-	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAATAAGGAAGAAATAAAGTT	0.403000														18			5		0	0	0.000602214	0	0
NTSR1	4923	broad.mit.edu	37	20	61341150	61341151	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:61341150_61341151CC>TT	uc002ydf.3	+	0	962_963	c.591_592CC>TT	c.(589-594)gccctg>gcTTtg	p.197_198AL>AL		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	197						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCGCCTCGGCCCTGCTGGCGGT	0.668000														42			11		0	0	6.4e-05	0	0
VWF	7450	broad.mit.edu	37	12	6103305	6103305	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:6103305C>T	uc001qnn.1	-	36	6571	c.6321G>A	c.(6319-6321)tgG>tgA	p.W2107*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2107	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAAGTGTTTTCCAGTCTGTGG	0.522000														47			8		0	0	0.000157383	0	0
TFR2	7036	broad.mit.edu	37	7	100229756	100229756	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100229756G>A	uc003uvv.1	-	6	984	c.915C>T	c.(913-915)tcC>tcT	p.S305S	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.S134S	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	305					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGGTCCTGGGAGAAGTCCG	0.612000														67			27		0	0	0.00127121	0	0
MTBP	27085	broad.mit.edu	37	8	121518961	121518961	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:121518961T>C	uc003ypc.1	+	15	1788	c.1743T>C	c.(1741-1743)ccT>ccC	p.P581P		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	581	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTCATTACCTCATTCATCTG	0.393000														29			10		0	0	0.000442599	0	0
PARP6	56965	broad.mit.edu	37	15	72541600	72541600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:72541600G>A	uc002auc.3	-	18	2006	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PARP6_uc002aua.3_Missense_Mutation_p.S362F|PARP6_uc002aub.3_Intron|PARP6_uc002aud.4_Intron|PARP6_uc002auf.1_Missense_Mutation_p.S517F	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	516	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GTATCCAAAGGAAATACTGGA	0.478000														98			8		0	0	0.000274275	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060701	58060701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:58060701G>A	uc021rtp.1	-	1	294	c.245C>T	c.(244-246)tCc>tTc	p.S82F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACTCCTGAGGATCCTTGGTT	0.458000														35			4		0	0	0.000602214	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41009457	41009457	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:41009457C>T	uc003jmj.4	-	31	3835	c.3345G>A	c.(3343-3345)ggG>ggA	p.G1115G	HEATR7B2_uc003jmi.4_Silent_p.G670G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1115							binding	p.G1115E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCAAGAGTTTCCCACTGGAGG	0.512000														90			14		0	0	0.000422831	0	0
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152507377C>T	uc021vrb.1	-	50	6967	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_uc002txu.3_Missense_Mutation_p.R2313Q|NEB_uc021vrc.1_Missense_Mutation_p.R2313Q|NEB_uc010fnx.3_Missense_Mutation_p.R2313Q|NEB_uc021vrd.1_Missense_Mutation_p.R2313Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393000														143			26		0	0	0.001512	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686417	108686417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:108686417C>T	uc009zuw.3	-	2	514	c.323G>A	c.(322-324)gGg>gAg	p.G108E	CMKLR1_uc001tmw.3_Missense_Mutation_p.G108E|CMKLR1_uc001tmv.3_Missense_Mutation_p.G106E|CMKLR1_uc009zuv.3_Missense_Mutation_p.G108E|CMKLR1_uc021rdj.1_Missense_Mutation_p.G106E	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	108					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.A108A(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CATGGCTGTCCCGAAAACCCA	0.522000														46			5		0	0	0.00116845	0	0
GJB6	10804	broad.mit.edu	37	13	20796929	20796929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:20796929G>A	uc001und.4	-	2	1078	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	GJB6_uc001umz.4_Missense_Mutation_p.H231Y|GJB6_uc001unb.4_Missense_Mutation_p.H231Y|GJB6_uc001unc.4_Missense_Mutation_p.H231Y|GJB6_uc001una.4_Missense_Mutation_p.H231Y|GJB6_uc021rhb.1_Missense_Mutation_p.H231Y	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	231					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TGATTGGGGTGATTTTTTTGC	0.428000														89			18		0	0	0.00074312	0	0
IQCA1	79781	broad.mit.edu	37	2	237276926	237276926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:237276926C>T	uc002vwb.2	-	13	1638	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	IQCA1_uc002vvz.1_Missense_Mutation_p.G527E|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G486E	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	527							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AAGAGTAGTCCCCAGGTAGCT	0.483000														7			3		0	0	0.00024832	0	0
C1orf158	93190	broad.mit.edu	37	1	12819291	12819291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12819291C>T	uc001auh.3	+	2	490	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	C1orf158_uc010obe.1_Missense_Mutation_p.R92C	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	92										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCACATCGCTACCTGAT	0.567000														127			30		0	0	0.000339439	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706646	26706646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26706646C>T	uc003acb.3	+	6	1721	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	SEZ6L_uc003acd.3_Missense_Mutation_p.H509Y|SEZ6L_uc011akd.2_Missense_Mutation_p.H509Y|SEZ6L_uc003ace.3_Missense_Mutation_p.H509Y|SEZ6L_uc011akc.2_Missense_Mutation_p.H509Y|SEZ6L_uc003acc.3_Missense_Mutation_p.H509Y|SEZ6L_uc003acf.1_Missense_Mutation_p.H282Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.H282Y	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	509	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GATGACGGTTCACAGCGGGCA	0.572000														54			7		0	0	0.000442599	0	0
CLVS2	134829	broad.mit.edu	37	6	123332168	123332168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:123332168C>T	uc003pzi.1	+	2	1297	c.428C>T	c.(427-429)tCt>tTt	p.S143F		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	143	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCTTACTTTCTTTAGAAGCC	0.388000														64			7		0	0	0.000274275	0	0
MLL	4297	broad.mit.edu	37	11	118374553	118374553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:118374553C>T	uc001pta.3	+	26	7960	c.7937C>T	c.(7936-7938)cCa>cTa	p.P2646L	MLL_uc001ptb.3_Missense_Mutation_p.P2649L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2646					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAAGACATTCCATTCTACAGC	0.493000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									33			5		0	0	0.000602214	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853762	51853762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:51853762C>T	uc001rys.1	+	7	1061	c.883C>T	c.(883-885)Cct>Tct	p.P295S	SLC4A8_uc010sni.2_Missense_Mutation_p.P242S|SLC4A8_uc001rym.3_Missense_Mutation_p.P242S|SLC4A8_uc001ryn.3_Missense_Mutation_p.P242S|SLC4A8_uc001ryo.2_Missense_Mutation_p.P242S|SLC4A8_uc001ryp.1_Missense_Mutation_p.P242S|SLC4A8_uc010snj.2_Missense_Mutation_p.P322S|SLC4A8_uc001ryq.4_Missense_Mutation_p.P295S|SLC4A8_uc001ryr.3_Missense_Mutation_p.P295S|SLC4A8_uc010snk.2_Missense_Mutation_p.P242S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	295					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAAAAAATTCCTACTGGGGC	0.423000														118			20		0	0	0.00188189	0	0
ABCA2	20	broad.mit.edu	37	9	139905119	139905120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:139905119_139905120GG>AA	uc004ckm.1	-	39	6263_6264	c.6213_6214CC>TT	c.(6211-6216)ctccgg>ctTTgg	p.R2072W	ABCA2_uc022bpy.1_Missense_Mutation_p.R1973W|ABCA2_uc022bpz.1_Missense_Mutation_p.R2043W|ABCA2_uc011mem.1_Missense_Mutation_p.R2042W|ABCA2_uc004ckl.1_Missense_Mutation_p.R1973W|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2042	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGTCTCCCCGGAGCACTCGCT	0.639000														72			16		0	0	6.4e-05	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326418	37326418	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:37326418G>A	uc003aqa.4	+	7	936	c.719_splice	c.e7-1	p.G240_splice	CSF2RB_uc003aqc.4_Splice_Site_p.G240_splice	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	240					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAACCCAGGGGATGAGGCCC	0.607000														113			8		0	0	0.000274275	0	0
DST	667	broad.mit.edu	37	6	56434769	56434769	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:56434769A>G	uc003pcy.4	-	34	6002	c.5894T>C	c.(5893-5895)tTc>tCc	p.F1965S		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4377					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGAACTTGGAAAGCATCCAA	0.303000														58			12		0	0	0.000978159	0	0
TMOD2	29767	broad.mit.edu	37	15	52100619	52100619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:52100619C>T	uc002abk.3	+	9	1245	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	TMOD2_uc002abl.4_Missense_Mutation_p.R306C|TMOD2_uc010bfb.3_Missense_Mutation_p.R298C	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	342					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TTACCTAGTTCGTAAGAAGAG	0.363000														50			8		0	0	0.000673444	0	0
ITSN1	6453	broad.mit.edu	37	21	35206644	35206644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:35206644C>T	uc002yta.1	+	27	3653	c.3385C>T	c.(3385-3387)Cca>Tca	p.P1129S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P1008S|ITSN1_uc002ysy.3_Missense_Mutation_p.P1124S|ITSN1_uc002ysx.3_Missense_Mutation_p.P1087S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P1053S|ITSN1_uc010gmg.3_Missense_Mutation_p.P1016S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P1129S|ITSN1_uc010gmi.3_Missense_Mutation_p.P1092S|ITSN1_uc002ytb.1_Missense_Mutation_p.P1124S|ITSN1_uc010gmk.3_Missense_Mutation_p.P1021S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P1124S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P992S|ITSN1_uc021wip.1_Missense_Mutation_p.P947S|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1129	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGGCTGGTTCCCAGCTAATTA	0.418000														43			7		0	0	0.000157383	0	0
NOS1	4842	broad.mit.edu	37	12	117768817	117768817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:117768817G>A	uc001twn.2	-	1	769	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	NOS1_uc001twm.2_Missense_Mutation_p.L20F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	20	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGCTTGAAGAGACGAACAGAA	0.547000														49			12		0	0	0.000308642	0	0
C2orf42	54980	broad.mit.edu	37	2	70392745	70392745	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:70392745G>A	uc002sgh.3	-	6	1495	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	389										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GAGGAATGTGGAACACCAATG	0.418000														64			6		0	0	8.12818e-05	0	0
PRDM5	11107	broad.mit.edu	37	4	121774688	121774688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:121774688C>T	uc003idn.3	-	2	435	c.185G>A	c.(184-186)gGg>gAg	p.G62E	PRDM5_uc003ido.3_Missense_Mutation_p.G62E|PRDM5_uc010ine.3_Missense_Mutation_p.G62E|PRDM5_uc010inf.3_Missense_Mutation_p.G62E|PRDM5_uc003idp.1_Missense_Mutation_p.G62E	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	62	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G62W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCCTTACTCCCACGAACCTG	0.433000														115			9		0	0	0.000978159	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427408	21427408	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21427408G>A	uc001rer.3	-	12	2039	c.1788C>T	c.(1786-1788)acC>acT	p.T596T	SLCO1A2_uc010siq.2_Silent_p.T464T|SLCO1A2_uc001res.3_Silent_p.T596T|SLCO1A2_uc010sio.2_Silent_p.T464T|SLCO1A2_uc010sip.2_Silent_p.T464T	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	596					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTTACCTGAAGGTGGTGGAAT	0.368000														37			9		0	0	0.000274275	0	0
IGSF10	285313	broad.mit.edu	37	3	151171270	151171270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151171270G>A	uc011bod.2	-	2	617	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	206					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCATATAGGAGACCATCTC	0.438000														77			8		0	0	0.000157383	0	0
JMJD1C	221037	broad.mit.edu	37	10	64966362	64966362	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:64966362G>A	uc001jmn.3	-	9	5367	c.5067C>T	c.(5065-5067)aaC>aaT	p.N1689N	JMJD1C_uc001jml.3_Silent_p.N1470N|JMJD1C_uc001jmm.3_Silent_p.N1401N|JMJD1C_uc010qiq.2_Silent_p.N1507N|JMJD1C_uc009xpi.3_Silent_p.N1507N|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Silent_p.N726N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1689					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TACTATTACTGTTGCTTTGCA	0.363000														69			10		0	0	0.00185496	0	0
OR10H2	26538	broad.mit.edu	37	19	15839164	15839165	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15839164_15839165CC>TT	uc002nbm.2	+	0	331_332	c.311_312CC>TT	c.(310-312)tcc>tTT	p.S104F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ATGTTCTTCTCCTTCAGCTTCG	0.624000														30			4		0	0	6.4e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731171	140731171	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140731171C>T	uc003ljo.2	+	0	1344	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F448F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTTTTCCATCAGGCCT	0.562000														43			6		0	0	0.00116845	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518090	113518090	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:113518090C>T	uc010ljy.1	-	3	3088	c.3057G>A	c.(3055-3057)gaG>gaA	p.E1019E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1019					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCCATATTCTCAAGAGGTT	0.383000														43			7		0	0	8.12818e-05	0	0
NOP14	8602	broad.mit.edu	37	4	2941319	2941320	+	Missense_Mutation	DNP	CC	TT	TT	rs146093320	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:2941319_2941320CC>TT	uc003ggj.1	-	15	2324_2325	c.2252_2253GG>AA	c.(2251-2253)cgg>cAA	p.R751Q	NOP14-AS1_uc003ggd.1_Intron|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc021xkt.1_5'Flank|NOP14_uc003ggl.3_Missense_Mutation_p.R751Q	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	751					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AGGTCAGCGGCCGGCAGAGCTG	0.589000														50			8		0	0	6.4e-05	0	0
FYB	2533	broad.mit.edu	37	5	39153648	39153648	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:39153648G>A	uc003jls.3	-	1	1261	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	FYB_uc003jlt.3_Silent_p.S398S|FYB_uc003jlu.3_Silent_p.S398S|FYB_uc011cpl.2_Silent_p.S408S	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	398	Interaction with SKAP1.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCGGATGGGATGGTGGAG	0.488000														101			21		0	0	0.00152264	0	0
FAT4	79633	broad.mit.edu	37	4	126241799	126241799	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:126241799G>A	uc003ifj.4	+	0	4233	c.4233G>A	c.(4231-4233)agG>agA	p.R1411R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1411	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1410M(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCACGTGAGGGACTTTAATG	0.393000														110			7		0	0	0.000274275	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366778	69366778	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:69366778G>A	uc009xpn.1	-	2	252	c.129C>T	c.(127-129)aaC>aaT	p.N43N	CTNNA3_uc001jmw.2_Silent_p.N43N|CTNNA3_uc001jmx.4_Silent_p.N43N|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.N55N	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	43					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCTGGAAGGGTTCTGGGGAC	0.403000														63			7		0	0	0.000274275	0	0
VDR	7421	broad.mit.edu	37	12	48249476	48249476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:48249476G>A	uc001rql.3	-	6	1243	c.842C>T	c.(841-843)gCt>gTt	p.A281V	VDR_uc001rqm.3_Missense_Mutation_p.A231V|VDR_uc001rqn.3_Missense_Mutation_p.A231V|VDR_uc010slq.2_Missense_Mutation_p.A199V	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	231	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GACCAGGTCAGCCAGGTGGGG	0.502000														48			11		0	0	0.00185496	0	0
SP110	3431	broad.mit.edu	37	2	231036431	231036431	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231036431A>G	uc002vqg.3	-	16	2108	c.1868T>C	c.(1867-1869)tTt>tCt	p.F623S	SP110_uc002vqh.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	605	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GATGCCCGTAAAAAAGGAGCT	0.428000														73			4		0	0	0.000602214	0	0
FLJ43860	389690	broad.mit.edu	37	8	142490441	142490441	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:142490441C>T	uc003ywi.2	-	7	939	c.858_splice	c.e7+1	p.K286_splice	FLJ43860_uc011ljs.1_Splice_Site|FLJ43860_uc010meu.1_Splice_Site	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	286							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGGGCTCACCTTCTCAGGGG	0.627000														14			6		0	0	8.12818e-05	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54925476	54925476	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:54925476C>T	uc003dhf.3	+	25	2294	c.2246_splice	c.e25+1	p.Q749_splice	CACNA2D3_uc003dhg.1_Splice_Site_p.Q655_splice|CACNA2D3_uc003dhh.1_Splice_Site|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	749						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTCACCAATCAGTAAGTAGG	0.502000														27			6		0	0	0.00116845	0	0
KLHL31	401265	broad.mit.edu	37	6	53519959	53519959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:53519959C>T	uc003pcb.4	-	1	253	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCCTCCCTCTAGGAGCCCA	0.413000														45			8		0	0	0.000157383	0	0
OPN4	94233	broad.mit.edu	37	10	88418312	88418312	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:88418312C>T	uc010qmk.1	+	4	756	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	OPN4_uc001kdp.3_Silent_p.L177L|OPN4_uc001kdq.3_Silent_p.L166L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	166					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCCATCGCCCTGGACCGCTA	0.607000														37			4		0	0	0.00024832	0	0
PELI3	246330	broad.mit.edu	37	11	66241261	66241261	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:66241261C>T	uc001oic.4	+	6	869	c.705C>T	c.(703-705)acC>acT	p.T235T	PELI3_uc021qlx.1_Silent_p.T211T|PELI3_uc001oib.2_Silent_p.T235T|PELI3_uc001oid.4_Silent_p.T211T|PELI3_uc021qly.1_Silent_p.T128T	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	235						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GACTGACCACCAATGGAGTCC	0.637000														35			5		0	0	0.000602214	0	0
NMUR2	56923	broad.mit.edu	37	5	151784348	151784348	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:151784348G>A	uc003luv.2	-	0	493	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	109					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGAAAGGGTAGTTGCGCCACA	0.592000														51			14		0	0	0.00185496	0	0
A2ML1	144568	broad.mit.edu	37	12	8990110	8990110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8990110G>A	uc001quz.4	+	7	901	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	112						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TACTGGTATCGAGAGGTGGAA	0.493000														56			6		0	0	0.000274275	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442053	145442053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145442053C>T	uc003lnt.3	+	9	2217	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P660L|SH3RF2_uc003lnu.3_Missense_Mutation_p.P151L|SH3RF2_uc011dbn.1_Missense_Mutation_p.P151L|SH3RF2_uc011dbo.2_Missense_Mutation_p.P117L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	660							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCCCATCCCACCTCCGGA	0.552000														54			10		0	0	0.000442599	0	0
JAK2	3717	broad.mit.edu	37	9	5089711	5089711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:5089711C>T	uc010mhm.3	+	18	2722	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	JAK2_uc003ziw.3_Missense_Mutation_p.P870L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	870	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.D869G(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CGGTATGACCCTCTACAGGAC	0.403000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					53			9		0	0	0.000673444	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346659	92346659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:92346659C>T	uc003yez.3	+	5	1018	c.779C>T	c.(778-780)cCt>cTt	p.P260L	SLC26A7_uc003yex.3_Missense_Mutation_p.P260L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P260L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	260						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTTGTTCTTCCTGTAGATTTA	0.363000														17			4		0	0	0.000602214	0	0
CMYA5	202333	broad.mit.edu	37	5	79031757	79031757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79031757C>T	uc003kgc.3	+	1	7241	c.7169C>T	c.(7168-7170)tCa>tTa	p.S2390L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2390						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGCCAAAATCAGCTTCCTCC	0.338000														54			10		0	0	0.000442599	0	0
HELQ	113510	broad.mit.edu	37	4	84370062	84370062	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:84370062T>C	uc003hom.3	-	2	1244	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	HELQ_uc010ikb.3_Silent_p.L355L|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Silent_p.L249L	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	355	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGGAATATATTAAATTTTTTC	0.343000								Other identified genes with known or suspected DNA repair function						33			9		0	0	0.000442599	0	0
OVOS2	0	broad.mit.edu	37	12	31300850	31300850	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:31300850G>A	uc010sjy.1	-	10	1410	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACTTTACATTGGAATCATCCT	0.423000														149			10		0	0	0.000978159	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378687	31378687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31378687C>T	uc003tch.3	-	1	549	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	NEUROD6_uc022abi.1_Missense_Mutation_p.E66K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	66					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tcttcctcttccctgtcttcc	0.468000														72			14		0	0	0.00185496	0	0
AKAP1	8165	broad.mit.edu	37	17	55184485	55184485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:55184485G>A	uc010wnl.2	+	2	1942	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	AKAP1_uc002iux.3_Missense_Mutation_p.D554N|AKAP1_uc021uak.1_Missense_Mutation_p.D554N|AKAP1_uc010dcm.3_Missense_Mutation_p.D554N|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	554					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGAGTTGTCAGACTTGGGGGC	0.592000														81			16		0	0	0.00121646	0	0
RORB	6096	broad.mit.edu	37	9	77277467	77277467	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:77277467G>A	uc004aji.3	+	5	919	c.870G>A	c.(868-870)cgG>cgA	p.R290R	RORB_uc004ajh.3_Silent_p.R279R	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	290	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D290N(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTGCAAAGCGGATAACAGGCT	0.458000														48			12		0	0	0.00136819	0	0
SLC2A3	6515	broad.mit.edu	37	12	8086449	8086449	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8086449A>G	uc001qtr.3	-	1	327	c.65T>C	c.(64-66)tTc>tCc	p.F22S		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	22					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCAAATTGGAAAGAGCCGAT	0.438000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		110			16		0	0	0.00188189	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879432	144879432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:144879432C>T	uc021ouh.1	-	26	4320	c.4018G>A	c.(4018-4020)Gaa>Aaa	p.E1340K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1340K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1296K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E347K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1340					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGAACTCTTCCTGCTTCCCT	0.537000			T	PDGFRB	MPD									270			31		0	0	0.00148497	0	0
SHROOM3	57619	broad.mit.edu	37	4	77670212	77670212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:77670212G>A	uc011cbx.2	+	5	4749	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	SHROOM3_uc003hkg.3_Missense_Mutation_p.D1044N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1266					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCTTGTGAAGGATCCATGTTA	0.418000														163			33		0	0	0.00058488	0	0
GDF3	9573	broad.mit.edu	37	12	7842999	7842999	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7842999C>T	uc001qte.3	-	1	606	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	190					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTTGTCATTCCAATCCTTAG	0.493000														90			7		0	0	0.000442599	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590108	115590108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:115590108G>A	uc004eqi.3	+	13	2047	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	639					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S638S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AGTGGCAGCAGAAAACCGGAA	0.358000														46			14		0	0	0.000219431	0	0
CIB2	10518	broad.mit.edu	37	15	78403552	78403552	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:78403552G>A	uc010ums.1	-	2	474	c.153C>T	c.(151-153)atC>atT	p.I51I	CIB2_uc002bdb.1_Silent_p.I51I|CIB2_uc002bdc.1_Silent_p.I8I	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	51							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCACGTGGACGATGGGGCTCT	0.597000														64			10		0	0	0.00185496	0	0
FAM210B	116151	broad.mit.edu	37	20	54941148	54941148	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:54941148C>T	uc002xxc.3	+	2	463	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_080821	NP_543011	Q96KR6	CT108_HUMAN	Homo sapiens family with sequence similarity 210, member B (FAM210B), mRNA.	128	DUF1279.					integral to membrane											TGCCTGCAATCCTGCTGAAAC	0.438000														53			5		0	0	8.12818e-05	0	0
GFRA3	2676	broad.mit.edu	37	5	137593443	137593443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:137593443C>T	uc003lcn.3	-	3	810	c.670G>A	c.(670-672)Gac>Aac	p.D224N	GFRA3_uc003lco.3_Missense_Mutation_p.D193N	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	224					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCCCCGGTCGTTGGGGGCA	0.716000														22			5		0	0	0.000602214	0	0
GHR	2690	broad.mit.edu	37	5	42718806	42718806	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:42718806C>T	uc021xxv.1	+	9	1355	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	GHR_uc003jmt.3_Silent_p.F399F|GHR_uc003jmu.3_Silent_p.F399F|GHR_uc003jmv.2_Silent_p.F399F|GHR_uc021xxw.1_Silent_p.F399F|GHR_uc021xxx.1_Silent_p.F399F|GHR_uc021xxy.1_Silent_p.F399F|GHR_uc021xxz.1_Silent_p.F399F|GHR_uc021xya.1_Silent_p.F399F|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.F212F|GHR_uc021xyd.1_Silent_p.F377F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	399					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTGATTTCAATGCCAATG	0.458000														55			12		0	0	0.000308642	0	0
CACNA1D	776	broad.mit.edu	37	3	53815622	53815622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:53815622C>T	uc003dgv.4	+	38	4883	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	CACNA1D_uc003dgu.4_Missense_Mutation_p.R1594W|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1559W|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1241W|CACNA1D_uc003dgx.1_Missense_Mutation_p.R750W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1574					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1594W(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAAGAACTTCGGGCTGTGAT	0.453000														69			10		0	0	0.00136819	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:18688140C>T	uc003sui.3	+	9	1342	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	HDAC9_uc003sue.3_Missense_Mutation_p.S431L|HDAC9_uc011jyd.2_Missense_Mutation_p.S431L|HDAC9_uc003suh.3_Missense_Mutation_p.S431L|HDAC9_uc003suj.3_Missense_Mutation_p.S390L|HDAC9_uc011jya.2_Missense_Mutation_p.S429L|HDAC9_uc003sua.1_Missense_Mutation_p.S409L|HDAC9_uc003sud.2_Missense_Mutation_p.S431L|HDAC9_uc011jyc.2_Missense_Mutation_p.S390L|HDAC9_uc011jyb.2_Missense_Mutation_p.S387L|HDAC9_uc003suf.2_Missense_Mutation_p.S462L|HDAC9_uc010kud.2_Missense_Mutation_p.S434L|HDAC9_uc011jye.2_Missense_Mutation_p.S403L|HDAC9_uc011jyf.2_Missense_Mutation_p.S354L|HDAC9_uc010kue.1_Missense_Mutation_p.S174L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	431					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGAGAATTTCACCTGGCATT	0.473000														31			5		0	0	0.000157383	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553675	140553675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140553675C>T	uc003lit.3	+	0	1433	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAACATCACCATCACCGTC	0.517000														46			8		0	0	0.000442599	0	0
SHE	126669	broad.mit.edu	37	1	154461816	154461816	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:154461816A>G	uc001ffb.3	-	2	759	c.735T>C	c.(733-735)ggT>ggC	p.G245G	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	245								p.R244L(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATCTTTGGAACCCCGTCGTC	0.473000														59			16		0	0	0.000958276	0	0
FBXO15	201456	broad.mit.edu	37	18	71790672	71790672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:71790672G>A	uc002llf.2	-	7	1149	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	FBXO15_uc002lle.2_Missense_Mutation_p.H281Y	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	281										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGATCAACATGGAGTTGGTAG	0.438000														50			7		0	0	0.000157383	0	0
C7orf29	113763	broad.mit.edu	37	7	150027532	150027532	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150027532G>A	uc003wgy.3	+	0	595	c.39G>A	c.(37-39)ctG>ctA	p.L13L	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	13										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGGCCTCTCTGAGCCAGGTGC	0.642000														86			25		0	0	0.00178596	0	0
POLR1B	84172	broad.mit.edu	37	2	113321967	113321967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113321967C>T	uc002thw.2	+	9	2217	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	POLR1B_uc010fkn.2_Missense_Mutation_p.P490L|POLR1B_uc002thx.2_Missense_Mutation_p.P407L|POLR1B_uc010fko.2_Missense_Mutation_p.P395S|POLR1B_uc010fkp.2_5'UTR|POLR1B_uc002thy.2_Missense_Mutation_p.P407L|POLR1B_uc010yxo.1_Missense_Mutation_p.P323L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	546					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GATGGAGCTCCCCACCGATCA	0.517000														53			8		0	0	0.000157383	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677918	25677918	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:25677918C>G	uc003grr.3	+	12	1701	c.1620C>G	c.(1618-1620)atC>atG	p.I540M	SLC34A2_uc003grs.3_Missense_Mutation_p.I539M|SLC34A2_uc010iev.3_Missense_Mutation_p.I539M	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	540					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTTCCTGATCCCGCTGACGG	0.607000			T	ROS1	NSCLC									90			17		0	0	0.000375601	0	0
OR5M11	219487	broad.mit.edu	37	11	56310098	56310098	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56310098G>A	uc010rjl.2	-	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACACCAAGACGATGGTGAGGG	0.502000														29			7		0	0	0.000157383	0	0
MYO7B	4648	broad.mit.edu	37	2	128393813	128393813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:128393813G>A	uc002top.3	+	43	6012	c.5959G>A	c.(5959-5961)Gac>Aac	p.D1987N	MYO7B_uc002tos.2_Missense_Mutation_p.D97N	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1987	FERM 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAGCATAAGGACAAGACAGT	0.607000														69			12		0	0	0.000308642	0	0
CACNA1E	777	broad.mit.edu	37	1	181719617	181719617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181719617C>T	uc009wxt.3	+	25	3920	c.3725C>T	c.(3724-3726)gCt>gTt	p.A1242V	CACNA1E_uc001gow.3_Missense_Mutation_p.A1242V|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1223V|CACNA1E_uc001gox.1_Missense_Mutation_p.A468V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1242					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATAGGAACGCTTTGGGGTAA	0.428000														45			12		0	0	0.000422831	0	0
TAAR2	9287	broad.mit.edu	37	6	132939122	132939122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:132939122G>A	uc003qdl.1	-	1	223	c.223C>T	c.(223-225)Cac>Tac	p.H75Y	TAAR2_uc010kfr.1_Missense_Mutation_p.H30Y	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	75						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GTTGGTGTGTGAAGCTGCTTG	0.433000														40			13		0	0	0.000219431	0	0
DNAH3	55567	broad.mit.edu	37	16	20986660	20986660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20986660C>T	uc010vbe.2	-	50	8154	c.8154G>A	c.(8152-8154)atG>atA	p.M2718I	DNAH3_uc010vbd.2_Missense_Mutation_p.M153I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2718	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATTTTCACCATCATCTTGG	0.488000														172			22		0	0	0.000720815	0	0
CCDC73	493860	broad.mit.edu	37	11	32635808	32635808	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:32635808G>A	uc001mtv.3	-	15	2100	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	686								p.L686L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CAGACTTGCAGAAAATCTGAA	0.303000														53			6		0	0	0.00116845	0	0
C2orf71	388939	broad.mit.edu	37	2	29296693	29296693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29296693C>T	uc002rmt.2	-	0	435	c.435G>A	c.(433-435)tgG>tgA	p.W145*		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	145					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGTCCTTTTCCATTTGGAAG	0.498000														84			11		0	0	0.000673444	0	0
NLRP10	338322	broad.mit.edu	37	11	7981952	7981952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7981952C>T	uc001mfv.1	-	1	1224	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	403	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGGAAAGCTCGGAGCAGCCC	0.537000														28			8		0	0	0.000274275	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558403	106558403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:106558403G>A	uc009yxn.1	-	8	2554	c.2164C>T	c.(2164-2166)Cct>Tct	p.P722S	GUCY1A2_uc001pjg.1_Missense_Mutation_p.P691S|GUCY1A2_uc010rvo.1_Missense_Mutation_p.P712S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	691					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGATCCCAGGAATTTCCTTT	0.423000														100			8		0	0	0.000274275	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835989	12835989	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12835989G>A	uc001aui.3	+	1	618	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	197										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAGGTCCTGAACACGGTGG	0.522000														124			16		0	0	0.00074312	0	0
TPTE	7179	broad.mit.edu	37	21	10996079	10996079	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:10996079G>A	uc002yis.1	-	11		c.2107C>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTGATCACAGATCTTTTGGT	0.368000														62			5		0	0	0.000602214	0	0
RPE65	6121	broad.mit.edu	37	1	68912415	68912415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:68912415C>T	uc001dei.1	-	2	277	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	75					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTGACATGTCCTTCTTTAAAG	0.502000														38			9		0	0	0.000978159	0	0
CUX2	23316	broad.mit.edu	37	12	111786014	111786014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:111786014C>T	uc001tsa.2	+	21	4500	c.4346C>T	c.(4345-4347)gCc>gTc	p.A1449V		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1449						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CACCCCAGTGCCAAGGTGAAC	0.627000														76			14		0	0	0.000308642	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058249	152058249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152058249C>T	uc001ezo.1	-	2	1974	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	637							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTCCCTGGGCCTTGATTCTTG	0.542000														56			9		0	0	0.00185496	0	0
SHANK2	22941	broad.mit.edu	37	11	70319106	70319106	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:70319106G>A	uc001oqc.3	-	21	5332	c.5220C>T	c.(5218-5220)gcC>gcT	p.A1740A	SHANK2_uc010rqn.2_Silent_p.A1216A|SHANK2_uc001opz.3_Silent_p.A1211A|BC127192_uc009ysn.1_Silent_p.K2K|SHANK2_uc001opy.3_Silent_p.A142A|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1427					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTCCATGAAGGCCTCTTTAT	0.468000														140			9		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21228381	21228381	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21228381G>C	uc002red.3	-	25	11487	c.11359C>G	c.(11359-11361)Ccc>Gcc	p.P3787A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3787					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)	TTTACCTCGGGGAGTGTTGGT	0.398000														272			42		0	0	0.000781405	0	0
NR1D2	9975	broad.mit.edu	37	3	24018800	24018800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:24018800C>T	uc003ccs.2	+	7	1949	c.1630C>T	c.(1630-1632)Cat>Tat	p.H544Y	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.H469Y	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	544					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATGAAAAACCATCCAAATGA	0.403000														75			5		0	0	0.000602214	0	0
ZNF831	128611	broad.mit.edu	37	20	57768659	57768659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57768659C>T	uc002yan.3	+	0	2585	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	862						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGCCGATCCCGGGGAGGTG	0.647000														43			9		0	0	0.000274275	0	0
TNXB	7148	broad.mit.edu	37	6	32046939	32046939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32046939C>T	uc003nzl.2	-	10	4448	c.4246G>A	c.(4246-4248)Gtg>Atg	p.V1416M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1503	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAACACGCACCGCCCGGGGC	0.652000														140			26		0	0	0.000720815	0	0
SHC3	53358	broad.mit.edu	37	9	91686138	91686138	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:91686138G>A	uc004aqf.2	-	4	1066	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	253	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGGCGAAGGAGATGGACCGCA	0.498000														34			6		0	0	0.000274275	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114449757	114449757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:114449757G>A	uc001eeg.3	+	1	623	c.329G>A	c.(328-330)gGa>gAa	p.G110E	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Intron	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	110					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGAAGGATATTTTGGA	0.398000								Other identified genes with known or suspected DNA repair function						62			6		0	0	8.12818e-05	0	0
CD101	9398	broad.mit.edu	37	1	117576597	117576597	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117576597G>A	uc010oxb.1	+	8	2998	c.2940G>A	c.(2938-2940)aaG>aaA	p.K980K	CD101_uc009whd.3_Silent_p.K980K|CD101_uc010oxc.1_Silent_p.K980K|CD101_uc010oxd.1_Silent_p.K918K	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	980					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TATACTGGAAGGCCAGGAAGT	0.522000														77			15		0	0	0.000422831	0	0
DNAH7	56171	broad.mit.edu	37	2	196799422	196799422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196799422C>T	uc002utj.4	-	20	3465	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1122	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAACCTCTCCTTCGCTGCTC	0.408000														115			12		0	0	0.000978159	0	0
OPLAH	26873	broad.mit.edu	37	8	145112601	145112601	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:145112601A>C	uc003zar.3	-	9	1254	c.1172T>G	c.(1171-1173)gTg>gGg	p.V391G	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.S216R	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	391							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGCATCCGTCACTGTCACAGG	0.662000														26			5		0	0	8.12818e-05	0	0
KRT76	51350	broad.mit.edu	37	12	53167422	53167422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53167422C>T	uc001sax.3	-	2	874	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	274	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTCATCTTCATACCTGGAA	0.488000														33			11		0	0	0.000978159	0	0
TRPS1	7227	broad.mit.edu	37	8	116599617	116599617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:116599617C>T	uc003yny.3	-	4	2889	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	TRPS1_uc011lhy.2_Missense_Mutation_p.E762K|TRPS1_uc003ynz.3_Missense_Mutation_p.E758K|TRPS1_uc010mcy.3_Missense_Mutation_p.E758K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	758	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAACTGGCTCTCCCATTTTA	0.493000									Langer-Giedion syndrome					190			15		0	0	0.000566183	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763278	92763278	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92763278G>A	uc003umh.1	-	4	3223	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SAMD9L_uc003umj.1_Silent_p.I669I|SAMD9L_uc003umi.1_Silent_p.I669I|SAMD9L_uc010lfb.1_Silent_p.I669I|SAMD9L_uc003umk.1_Silent_p.I669I|SAMD9L_uc010lfc.1_Silent_p.I669I|SAMD9L_uc010lfd.1_Silent_p.I669I|SAMD9L_uc022ahh.1_Silent_p.I669I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	669										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTCTTTCTCGATGTCTGTCT	0.398000														38			12		0	0	0.00136819	0	0
EPHB6	2051	broad.mit.edu	37	7	142565365	142565365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142565365G>A	uc011kst.2	+	11	2537	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	EPHB6_uc011ksu.2_Missense_Mutation_p.E584K|EPHB6_uc003wbs.3_Missense_Mutation_p.E292K|EPHB6_uc003wbt.3_Missense_Mutation_p.E58K|EPHB6_uc003wbu.3_Missense_Mutation_p.E292K|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	584						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCCCCCAGGGGAGCTGTCTTC	0.627000														25			4		0	0	0.00116845	0	0
CD163L1	283316	broad.mit.edu	37	12	7559219	7559219	+	Silent	SNP	G	A	A	rs143012538		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7559219G>A	uc010sge.2	-	4	1052	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	CD163L1_uc001qsy.3_Silent_p.S332S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	332	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R342R(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCATTACCGGAGCAGGAGA	0.473000														49			12		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82784986	82784986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82784986G>A	uc003uhx.2	-	1	1260	c.971C>T	c.(970-972)tCa>tTa	p.S324L	PCLO_uc003uhv.2_Missense_Mutation_p.S324L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	310	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			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCAGGCTGTGATTTTTCATG	0.557000														29			14		0	0	0.000219431	0	0
CCDC141	285025	broad.mit.edu	37	2	179733924	179733925	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179733924_179733925GG>AA	uc002une.2	-	14	2431_2432	c.2313_2314CC>TT	c.(2311-2316)ttccat>ttTTat	p.H772Y	CCDC141_uc002unf.1_Missense_Mutation_p.H251Y	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	197							protein binding	p.E772*(1)|p.E772K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTTTTGATGGAAGTGAATAA	0.421000														91			13		0	0	6.4e-05	0	0
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	A	A	rs147260851	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:25042969G>A	uc001wpq.3	-	4	679	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557000														73			7		0	0	0.000157383	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163938	150163938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150163938G>A	uc003whj.3	+	1	482	c.152G>A	c.(151-153)aGa>aAa	p.R51K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	51						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGTGCCAGAGAGAGAGTTGG	0.468000														112			13		0	0	0.000422831	0	0
SYNE1	23345	broad.mit.edu	37	6	152737990	152737990	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:152737990T>A	uc021zhb.1	-	38	5805	c.5582A>T	c.(5581-5583)gAg>gTg	p.E1861V	SYNE1_uc003qot.4_Missense_Mutation_p.E1868V|SYNE1_uc003qou.4_Missense_Mutation_p.E1861V|SYNE1_uc010kjb.1_Missense_Mutation_p.E1844V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1861					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCCGCCTCTCCACAACCTG	0.602000										HNSCC(10;0.0054)				46			8		0	0	0.000274275	0	0
ARAP1	116985	broad.mit.edu	37	11	72422081	72422081	+	Missense_Mutation	SNP	G	A	A	rs147507879		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:72422081G>A	uc001osu.3	-	8	1387	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ARAP1_uc001osv.3_Missense_Mutation_p.R400W|ARAP1_uc001osr.3_Missense_Mutation_p.R160W|ARAP1_uc001oss.3_Missense_Mutation_p.R155W|ARAP1_uc009yth.3_Missense_Mutation_p.R155W|ARAP1_uc010rre.2_Missense_Mutation_p.R155W	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	400	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCTCTGCCCGGAAGGCAAAG	0.532000														203			24		0	0	0.000720815	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724790	140724790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140724790C>T	uc003ljm.2	+	0	1190	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S397L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	400	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAAATCAATAGATCAA	0.448000														77			9		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9074822	9074822	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9074822C>T	uc002mkp.3	-	2	12828	c.12624G>A	c.(12622-12624)agG>agA	p.R4208R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4210	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAAGCTTATCCTCGACATGT	0.502000														45			6		0	0	8.12818e-05	0	0
C20orf26	26074	broad.mit.edu	37	20	20232362	20232362	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:20232362C>T	uc002wru.3	+	19	2397	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	C20orf26_uc010zse.2_Silent_p.I741I|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.I117I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	761								p.E760D(1)|p.E760K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGACGAGATCGTGCCCTACG	0.597000														46			11		0	0	0.000673444	0	0
MYO1F	4542	broad.mit.edu	37	19	8586485	8586485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8586485G>A	uc002mkg.3	-	27	3362	c.3224C>T	c.(3223-3225)cCc>cTc	p.P1075L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	1075	SH3.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCAGCCCGAGGGATCTGTGGG	0.587000														32			6		0	0	0.00116845	0	0
JPH3	57338	broad.mit.edu	37	16	87678075	87678075	+	Silent	SNP	C	T	T	rs138715600	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:87678075C>T	uc002fkd.3	+	1	848	c.594C>T	c.(592-594)ctC>ctT	p.L198L	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	198					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTTCGTGCTCGTGGCCCACA	0.682000														51			10		0	0	0.000673444	0	0
KIAA1109	84162	broad.mit.edu	37	4	123255673	123255673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:123255673C>T	uc003ieh.3	+	66	11866	c.11821C>T	c.(11821-11823)Cct>Tct	p.P3941S	KIAA1109_uc003iem.3_Intron	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3941					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CACCTTACTTCCTCCCCAGCC	0.398000														33			6		0	0	0.000157383	0	0
IDE	3416	broad.mit.edu	37	10	94264551	94264552	+	Splice_Site	DNP	CG	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:94264551_94264552CG>AT	uc001kia.3	-	11	1506	c.1430_splice	c.e11+1	p.R477_splice		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	477					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGACTCACCGGACATTTTCT	0.317000														287			13		0	0	6.4e-05	0	0
PLCH1	23007	broad.mit.edu	37	3	155200053	155200053	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:155200053C>T	uc021xge.1	-	22	4063	c.3786G>A	c.(3784-3786)tcG>tcA	p.S1262S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.S1224S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1262					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S1224S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTCAGAACTCGAGAGTGCTA	0.468000														98			18		0	0	0.00121646	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093743	69093743	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69093743C>T	uc003hdw.4	-	9	1273	c.1137G>A	c.(1135-1137)tgG>tgA	p.W379*		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	379	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CAACAAGATGCCAGATATTTC	0.368000														39			4		0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179584073G>A	uc021vsy.1	-	79	20537	c.20312C>T	c.(20311-20313)tCa>tTa	p.S6771L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3432L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7698	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCAACTGAAATCGGGGC	0.502000														77			8		0	0	0.000442599	0	0
THAP4	51078	broad.mit.edu	37	2	242572754	242572754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:242572754C>T	uc002wbt.3	-	1	1111	c.818G>A	c.(817-819)aGc>aAc	p.S273N		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	273							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGGTCCCAGGCTGCTCCCACT	0.627000														77			6		0	0	8.12818e-05	0	0
NDNF	79625	broad.mit.edu	37	4	121957922	121957922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:121957922C>T	uc003idq.1	-	3	1731	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	402										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGAATGCCTTCCACATTCTGA	0.408000														64			7		0	0	0.000442599	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361478	105361478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:105361478G>A	uc003ylx.1	+	1	747	c.698G>A	c.(697-699)cGa>cAa	p.R233Q		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	233					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTCATGAAGCGATTTTTGGGC	0.498000														85			9		0	0	0.000442599	0	0
KRT77	374454	broad.mit.edu	37	12	53096993	53096994	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53096993_53096994CC>TT	uc001saw.3	-	0	254_255	c.225_226GG>AA	c.(223-228)atgggg>atAAgg	p.75_76MG>IR	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	75	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTCCCCATTAGATTAA	0.589000														15			4		0	0	6.4e-05	0	0
MYH7	4625	broad.mit.edu	37	14	23887557	23887557	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:23887557C>A	uc001wjx.3	-	29	4137	c.4031G>T	c.(4030-4032)cGg>cTg	p.R1344L	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1344					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTACTGCTCCCGCAGCAGGTC	0.667000														28			4		0.000602214	0.00310189	0.000602214	1	0
C12orf50	160419	broad.mit.edu	37	12	88391963	88391963	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:88391963G>A	uc001tam.1	-	3	306	c.138C>T	c.(136-138)atC>atT	p.I46I	C12orf50_uc001tan.3_Silent_p.I100I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	46										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCTGTAGTGTGATATCTGCAG	0.373000														22			5		0	0	8.12818e-05	0	0
COPB1	1315	broad.mit.edu	37	11	14502334	14502334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:14502334G>A	uc001mlh.2	-	9	1429	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	COPB1_uc001mli.2_Missense_Mutation_p.P395S|COPB1_uc001mlg.2_Missense_Mutation_p.P395S	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	395					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCCATATCTGGAAATCGGACA	0.313000														159			9		0	0	0.000978159	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147045	52147045	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52147045G>A	uc002pxf.4	-	4	1119	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	333					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCACAGAAAGGATGAAGGACA	0.587000														39			5		0	0	0.00116845	0	0
TRIO	7204	broad.mit.edu	37	5	14508315	14508315	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:14508315C>T	uc003jff.3	+	56	9084	c.9078C>T	c.(9076-9078)ttC>ttT	p.F3026F	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	3026	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.F3026F(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCAAGGAGTTCGTGTGCTTCC	0.602000														94			17		0	0	0.000566183	0	0
MYLK3	91807	broad.mit.edu	37	16	46761279	46761279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:46761279C>T	uc002eei.4	-	7	1899	c.1783G>A	c.(1783-1785)Ggt>Agt	p.G595S	MYLK3_uc010vge.2_Missense_Mutation_p.G254S|MYLK3_uc002eej.1_Missense_Mutation_p.G254S	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	595	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGAGCTCACCCCCGTCCACG	0.572000														17			4		0	0	0.000602214	0	0
ENC1	8507	broad.mit.edu	37	5	73932025	73932025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:73932025C>T	uc003kdc.4	-	1	1417	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ENC1_uc011css.2_Missense_Mutation_p.E23K|ENC1_uc021yao.1_Missense_Mutation_p.E96K	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	96	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCCAAGACTTCTGGGTGGATG	0.517000														53			11		0	0	0.000978159	0	0
ADH1C	126	broad.mit.edu	37	4	100263952	100263952	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:100263952C>T	uc021xqi.1	-	6		c.913_splice	c.e6+1			NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CGGATCATACCATGGTGTCAA	0.418000														119			17		0	0	0.000958276	0	0
GBAS	2631	broad.mit.edu	37	7	56051436	56051436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:56051436C>T	uc003tre.2	+	5	493	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	GBAS_uc003trf.2_Missense_Mutation_p.R115C	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	154						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTGGAATTTCGTAAGGCAAG	0.383000														93			12		0	0	0.000422831	0	0
C15orf2	23742	broad.mit.edu	37	15	24922781	24922781	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:24922781C>T	uc001ywo.3	+	0	2241	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	589					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTGTTATTTTCACATCTTCCC	0.488000														64			12		0	0	0.00136819	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107556	6107556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:6107556C>T	uc010idb.1	-	2	754	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.G90R|JAKMIP1_uc003giu.4_Missense_Mutation_p.G90R|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.G90R|JAKMIP1_uc010ide.3_Missense_Mutation_p.G90R	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	90	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGATGAGCCCCTCGCGCAGC	0.687000														30			4		0	0	0.000602214	0	0
DHX37	57647	broad.mit.edu	37	12	125461959	125461959	+	Silent	SNP	G	A	A	rs149069975		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:125461959G>A	uc001ugy.3	-	4	915	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	272	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACCACACACGATGACGATGG	0.572000														49			6		0	0	0.00116845	0	0
GRM8	2918	broad.mit.edu	37	7	126883213	126883213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:126883213G>A	uc003vlr.2	-	0	357	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L16F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	16					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCGGTCAAGAGGAAGAAACAA	0.478000										HNSCC(24;0.065)	OREG0003802	type=REGULATORY REGION|Gene=GRM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		52			5		0	0	0.00116845	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171563	207171563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207171563G>A	uc002vbp.2	+	4	2561	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	771							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGCTGAAGGAAAAGAACG	0.423000														103			22		0	0	0.000375601	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520032	113520032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:113520032C>T	uc010ljy.1	-	3	1146	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	372					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGACAGAGACCTTTGGAACAA	0.388000														68			6		0	0	0.000157383	0	0
GRIK2	2898	broad.mit.edu	37	6	102069868	102069868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:102069868G>A	uc003pqp.4	+	1	453	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	GRIK2_uc021zdj.1_Missense_Mutation_p.E54K|GRIK2_uc003pqn.3_Missense_Mutation_p.E54K|GRIK2_uc010kcw.3_Missense_Mutation_p.E54K|GRIK2_uc003pqo.4_Missense_Mutation_p.E54K|GRIK2_uc021zdk.1_Missense_Mutation_p.E54K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	54					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E54K(3)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGGAGCTGAGGAACTTGCATT	0.348000														33			4		0	0	0.000602214	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871244	51871244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:51871244G>A	uc002xwo.3	+	1	2134	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	TSHZ2_uc021wex.1_Missense_Mutation_p.G413E	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	416					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G416V(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCAAGAAAGGGAAGCAGCTG	0.532000														107			24		0	0	0.000878237	0	0
DZIP3	9666	broad.mit.edu	37	3	108407695	108407695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108407695C>T	uc003dxd.3	+	30	3862	c.3440C>T	c.(3439-3441)cCt>cTt	p.P1147L	DZIP3_uc003dxf.1_Missense_Mutation_p.P1147L|DZIP3_uc011bhm.2_Missense_Mutation_p.P598L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	1147					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAGAAGAGCCTTGTGTGATC	0.358000														37			4		0	0	8.12818e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40944562G>A	uc002xkg.3	-	11	2124	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_uc010ggj.3_Missense_Mutation_p.S647L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	647	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACGGGCACCGAAAAGCACTC	0.517000														54			11		0	0	0.000978159	0	0
LCK	3932	broad.mit.edu	37	1	32742265	32742265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:32742265C>T	uc001bux.3	+	8	980	c.842C>T	c.(841-843)tCc>tTc	p.S281F	LCK_uc001buy.3_Missense_Mutation_p.S281F|LCK_uc001buz.3_Missense_Mutation_p.S281F|LCK_uc010ohc.1_Missense_Mutation_p.S325F|LCK_uc001bva.3_Missense_Mutation_p.S288F	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	281	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGCAGCATGTCCCCGGACGCC	0.632000			T	TRB@	T-ALL									43			13		0	0	0.000566183	0	0
ZNF681	148213	broad.mit.edu	37	19	23938318	23938318	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:23938318G>A	uc002nrk.4	-	1	181	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF681_uc002nrl.4_Intron|ZNF681_uc002nrj.4_Intron|ZNF681_uc002nrm.1_5'Flank	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTCCAGAGAGAATTCTATGG	0.418000														78			7		0	0	0.000157383	0	0
PFAS	5198	broad.mit.edu	37	17	8169593	8169593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:8169593C>T	uc002gkr.3	+	21	2884	c.2743C>T	c.(2743-2745)Ctc>Ttc	p.L915F	PFAS_uc010vuv.2_Missense_Mutation_p.L491F|PFAS_uc002gks.3_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	915					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGACGGAGGCCTCGTCACATG	0.602000														46			5		0	0	0.000602214	0	0
TMEM54	113452	broad.mit.edu	37	1	33363812	33363812	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:33363812A>C	uc001bwi.1	-	1	239	c.125T>G	c.(124-126)gTg>gGg	p.V42G	TMEM54_uc001bwj.1_Missense_Mutation_p.V42G|TMEM54_uc001bwk.1_Missense_Mutation_p.V42G	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	42						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTAGCGCAGCACTGTGCCATG	0.607000														48			4		0	0	0.00024832	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452889	35452890	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:35452889_35452890GG>TT	uc001byh.3	-	15	4021_4022	c.3793_3794CC>AA	c.(3793-3795)cca>AAa	p.P1265K	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Missense_Mutation_p.P578K|ZMYM6_uc010oht.2_Missense_Mutation_p.P1168K	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1265					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ATGGAGTTCTGGGTAACTTGTC	0.332000														73			5		0	0	6.4e-05	0	0
NUPL1	9818	broad.mit.edu	37	13	25889591	25889592	+	Nonsense_Mutation	DNP	CC	AA	AA	rs151140483		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25889591_25889592CC>AA	uc001uqi.3	+	5	917_918	c.671_672CC>AA	c.(670-672)tcc>tAA	p.S224*	NUPL1_uc001uqg.1_Nonsense_Mutation_p.S224*|NUPL1_uc001uqj.3_Nonsense_Mutation_p.S212*	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	224	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.S224P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTCAGTAGCTCCTCAGATAAAA	0.396000														190			8		0	0	6.4e-05	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235936	63235936	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:63235936C>T	uc001nwy.2	-	4	550	c.376_splice	c.e4-1	p.G126_splice	HRASLS5_uc001nwz.2_Splice_Site_p.G116_splice|HRASLS5_uc010rmq.1_Splice_Site_p.G126_splice|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	126										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTTGGTTTTCCCTATAATGG	0.453000														82			9		0	0	0.000274275	0	0
LPHN2	23266	broad.mit.edu	37	1	82434986	82434986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:82434986G>A	uc001dit.4	+	13	2778	c.2597G>A	c.(2596-2598)cGa>cAa	p.R866Q	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R866Q|LPHN2_uc001div.3_Missense_Mutation_p.R866Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R866Q|LPHN2_uc001diw.3_Missense_Mutation_p.R450Q|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	879					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R866Q(2)|p.R879Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGAGTGACCGAAATACTATT	0.408000														86			6		0	0	0.000157383	0	0
HTRA2	27429	broad.mit.edu	37	2	74757769	74757769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74757769C>T	uc002smi.1	+	1	1134	c.532C>T	c.(532-534)Cct>Tct	p.P178S	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.P178S|HTRA2_uc002smk.1_Missense_Mutation_p.P178S|HTRA2_uc002sml.1_Missense_Mutation_p.P178S|HTRA2_uc010ffl.3_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	178	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CCGCGAGGTCCCTATCTCGAA	0.617000														63			12		0	0	0.000566183	0	0
IGF1	3479	broad.mit.edu	37	12	102811655	102811655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:102811655C>T	uc001tjp.4	-	3	748	c.529G>A	c.(529-531)Gag>Aag	p.E177K	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	177					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CTCCTCTGCTCTTTCTTCTTT	0.473000														293			59		0	0	0.000781405	0	0
NR5A2	2494	broad.mit.edu	37	1	200090020	200090020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:200090020C>T	uc001gvb.3	+	6	1521	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	NR5A2_uc001gvc.3_Missense_Mutation_p.R393C|NR5A2_uc009wzh.3_Missense_Mutation_p.R399C|NR5A2_uc010pph.2_Missense_Mutation_p.R367C	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCAAAACTTCGTTCTCTCCA	0.438000														73			17		0	0	0.00074312	0	0
ZNF417	147687	broad.mit.edu	37	19	58420681	58420681	+	Missense_Mutation	SNP	C	T	T	rs148360150		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58420681C>T	uc002qqq.3	-	2	1164	c.965G>A	c.(964-966)aGg>aAg	p.R322K	ZNF417_uc010yhm.2_Missense_Mutation_p.R279K|ZNF417_uc002qqr.3_Missense_Mutation_p.R321K	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTCATAAGGCCTTTCTCCAGT	0.468000														167			14		0	0	0.000308642	0	0
MPPED1	758	broad.mit.edu	37	22	43898546	43898546	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:43898546G>A	uc011apz.2	+	5	1211	c.870G>A	c.(868-870)aaG>aaA	p.K290K	MPPED1_uc011apv.2_Silent_p.K257K|MPPED1_uc011apw.2_Silent_p.K151K|MPPED1_uc011apx.2_Silent_p.K99K|MPPED1_uc011apy.2_Silent_p.K257K	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	257							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGGTCCCCAAGAAGATGCAGC	0.632000														74			14		0	0	0.00074312	0	0
TLL2	7093	broad.mit.edu	37	10	98136459	98136459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:98136459C>T	uc001kml.2	-	17	2679	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	813	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGTTTCACTCTGTGGCCTGC	0.532000														56			6		0	0	8.12818e-05	0	0
F13A1	2162	broad.mit.edu	37	6	6305608	6305608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:6305608G>A	uc003mwv.3	-	2	418	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	99					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCCTGAAGAGATCCCTTCTG	0.493000														43			12		0	0	0.000219431	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880441	15880441	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15880441C>T	uc002nbo.3	-	7		c.1254G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		TCTTGCACCTCCTGCCGGCAG	0.592000														28			6		0	0	0.000157383	0	0
ZNF202	7753	broad.mit.edu	37	11	123600433	123600433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123600433C>T	uc001pzd.1	-	4	903	c.503G>A	c.(502-504)aGc>aAc	p.S168N	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.S168N|ZNF202_uc001pzf.1_Missense_Mutation_p.S168N	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	168					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GGGGGTCGAGCTTTGCACAGG	0.597000														45			5		0	0	8.12818e-05	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213036	96213036	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:96213036C>T	uc004efu.4	+	15	2220	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	DIAPH2_uc004eft.4_Silent_p.P608P	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	608	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CACCACCACCCCTTGGAGGAG	0.493000														25			6		0	0	0.00116845	0	0
ITGB7	3695	broad.mit.edu	37	12	53589888	53589888	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53589888G>A	uc009zmv.3	-	5	983	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ITGB7_uc001scc.3_Silent_p.F304F|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	304	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACTGGGCATGAAAATGCCGC	0.552000														41			19		0	0	0.00188189	0	0
FSTL1	11167	broad.mit.edu	37	3	120128462	120128462	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:120128462G>T	uc003eds.3	-	5	554	c.379C>A	c.(379-381)Cag>Aag	p.Q127K	FSTL1_uc011bjh.2_Missense_Mutation_p.Q92K	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	127					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCCAGCCACTGGATGATGCGA	0.502000														49			9		4.68919e-08	2.43657e-07	0.000673444	1	0
SRGAP2	23380	broad.mit.edu	37	1	206632142	206632142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:206632142C>T	uc001hdy.3	+	18	2421	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	SRGAP2_uc010pru.2_Missense_Mutation_p.S806F	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	894					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GATAAGTGTTCCATCAGTGGG	0.617000														18			7		0	0	0.000442599	0	0
SVEP1	79987	broad.mit.edu	37	9	113198674	113198674	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:113198674G>A	uc010mtz.3	-	27	5087	c.4750C>T	c.(4750-4752)Ctg>Ttg	p.L1584L		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1584	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTGGAGACAGGACATAGTCC	0.448000														95			14		0	0	0.000219431	0	0
AEN	64782	broad.mit.edu	37	15	89172531	89172531	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89172531C>T	uc002bmt.2	+	2	766	c.615C>T	c.(613-615)gtC>gtT	p.V205V	AEN_uc010bnm.1_Silent_p.V205V	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	205	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCAAGTATGTCCACCCTCGGA	0.622000														75			7		0	0	0.000274275	0	0
NR5A1	2516	broad.mit.edu	37	9	127253497	127253497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:127253497G>A	uc004boo.1	-	5	1188	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	NR5A1_uc022bnh.1_Missense_Mutation_p.T294I	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	334	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGCCACTGTGGTCAGCTCCAC	0.706000														23			4		0	0	0.000602214	0	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:175372465C>T	uc001gkp.1	-	1	868	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_uc009wwu.1_Missense_Mutation_p.E263K|TNR_uc010pmz.1_Missense_Mutation_p.E263K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(2)|p.R262R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCAGTTCCCTGCAGTCC	0.637000														13			5		0	0	0.00116845	0	0
SPEF2	79925	broad.mit.edu	37	5	35654685	35654685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35654685G>A	uc003jjo.3	+	6	946	c.835G>A	c.(835-837)Gat>Aat	p.D279N	SPEF2_uc003jjn.1_Missense_Mutation_p.D279N|SPEF2_uc003jjq.4_Missense_Mutation_p.D279N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	279					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAACCACCGATTTGTTAAA	0.373000														65			9		0	0	0.000673444	0	0
OR2T34	127068	broad.mit.edu	37	1	248737464	248737464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248737464G>A	uc001iep.1	-	0	595	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTATAGAGGGAGACGTCA	0.517000														106			8		0	0	0.00136819	0	0
RTCA	8634	broad.mit.edu	37	1	100757014	100757014	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:100757014A>T	uc001dtd.3	+	11	1312	c.1094A>T	c.(1093-1095)tAt>tTt	p.Y365F	RTCA_uc001dtc.3_Missense_Mutation_p.Y352F	NM_001130841	NP_001124313	O00442	RTC1_HUMAN	Homo sapiens RNA terminal phosphate cyclase domain 1 (RTCD1), transcript variant 1, mRNA.	352					RNA processing	mitochondrion|nucleoplasm	ATP binding|RNA binding|RNA-3'-phosphate cyclase activity|protein binding										AAAGATACTTATATTATTGAA	0.318000														251			50		0	0	0.000781405	0	0
ABCB11	8647	broad.mit.edu	37	2	169830229	169830229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:169830229C>T	uc002ueo.1	-	12	1556	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	ABCB11_uc010zda.1_5'Flank|ABCB11_uc010zdb.1_5'Flank	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	477	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACCCACCATTCCTTCACAGGG	0.453000														48			7		0	0	0.000157383	0	0
TPO	7173	broad.mit.edu	37	2	1491699	1491699	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1491699C>T	uc002qwr.3	+	9	1790	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.S568S|TPO_uc002qwx.3_Intron|TPO_uc002qwu.3_Intron|TPO_uc010yio.2_Silent_p.S395S|TPO_uc010yip.2_Silent_p.S568S|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	568					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	p.L567L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	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)	TTGTGCTGTCCAATTCCAGCA	0.582000														69			12		0	0	0.000978159	0	0
ZNF536	9745	broad.mit.edu	37	19	31039827	31039827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:31039827G>A	uc002nsu.1	+	3	3439	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N	ZNF536_uc010edd.1_Missense_Mutation_p.D1101N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V1100M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCCACGTGGACCCTGCATT	0.542000														61			6		0	0	0.00116845	0	0
NLRP1	22861	broad.mit.edu	37	17	5442759	5442759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:5442759G>A	uc002gci.3	-	6	3401	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L	NLRP1_uc002gcg.1_Missense_Mutation_p.P949L|NLRP1_uc002gch.4_Missense_Mutation_p.P949L|NLRP1_uc002gck.3_Missense_Mutation_p.P949L|NLRP1_uc002gcj.3_Missense_Mutation_p.P949L|NLRP1_uc002gcl.3_Missense_Mutation_p.P949L|NLRP1_uc010clh.3_Missense_Mutation_p.P949L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	949					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTGCAGGCAGGATGCCTGAG	0.602000														15			4		0	0	0.00116845	0	0
NBPF1	55672	broad.mit.edu	37	1	16901664	16901664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16901664G>A	uc009vos.1	-	19	3068	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	NBPF1_uc009vot.1_Missense_Mutation_p.S185L|NBPF1_uc001ayz.1_Missense_Mutation_p.S185L|NBPF1_uc010oce.1_Missense_Mutation_p.S456L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	727	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGGGCAGACGATTTCTGCAC	0.428000														450			31		0	0	0.000437636	0	0
ABCC9	10060	broad.mit.edu	37	12	21997430	21997430	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21997430T>C	uc001rfh.3	-	25	3322	c.3302A>G	c.(3301-3303)aAt>aGt	p.N1101S	ABCC9_uc001rfi.1_Missense_Mutation_p.N1101S	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1101	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCAATGATATTAGTATCAGC	0.318000														119			20		0	0	0.000720815	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433955	37433955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:37433955G>A	uc021ppc.1	+	7	1357	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E420K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E419E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAACAAGAGGAAGATGAAGA	0.264000														102			7		0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179633539	179633539	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179633539G>A	uc021vsy.1	-	37	9249	c.9024C>T	c.(9022-9024)atC>atT	p.I3008I	TTN_uc021vsz.1_Silent_p.I2962I|TTN_uc021vta.1_Silent_p.I2962I|TTN_uc021vtb.1_Silent_p.I2962I|TTN_uc002unb.2_Silent_p.I3008I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3008	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGATTTGATTTCCACAC	0.408000														40			9		0	0	0.000978159	0	0
LRP1	4035	broad.mit.edu	37	12	57574144	57574144	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:57574144C>T	uc001snd.3	+	31	5734	c.5268C>T	c.(5266-5268)ctC>ctT	p.L1756L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1756					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAAGCAAACTCTACTGGATCA	0.612000														131			18		0	0	0.000958276	0	0
DNAH1	25981	broad.mit.edu	37	3	52398871	52398871	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:52398871T>A	uc011bef.2	+	33	5615	c.5354T>A	c.(5353-5355)aTc>aAc	p.I1785N		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1785					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCGGGCCATCCGTGATGTG	0.637000														22			7		0	0	8.12818e-05	0	0
ARGFX	503582	broad.mit.edu	37	3	121304888	121304888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121304888G>A	uc003eef.3	+	4	484	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AGGAACCGGCGATTCAAATTG	0.522000														40			10		0	0	0.000673444	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908062	139908062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:139908062C>T	uc003lfs.2	+	28	5685	c.5531C>T	c.(5530-5532)cCa>cTa	p.P1844L	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1844L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P583L|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P482L|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P279L|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1844						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTTTCCCAGTTTCTCTA	0.453000														99			10		0	0	0.00185496	0	0
OR5D14	219436	broad.mit.edu	37	11	55563361	55563361	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:55563361G>A	uc010rim.2	+	0	330	c.330G>A	c.(328-330)gtG>gtA	p.V110V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V110L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCACTGCTGTGGTGACAGAGT	0.493000														12			5		0	0	0.000602214	0	0
FAM135B	51059	broad.mit.edu	37	8	139207549	139207549	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:139207549C>T	uc003yuy.3	-	9	995	c.824_splice	c.e9-1	p.E275_splice	FAM135B_uc003yux.3_Splice_Site_p.E176_splice|FAM135B_uc003yuz.3_Splice_Site	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	275										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGCAAGGGCCTCTAGAAAGA	0.403000										HNSCC(54;0.14)				80			23		0	0	0.000720815	0	0
HERC3	8916	broad.mit.edu	37	4	89574126	89574126	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:89574126C>T	uc003hrw.1	+	5	736	c.570C>T	c.(568-570)atC>atT	p.I190I	HERC3_uc003hrv.3_Silent_p.I190I|HERC3_uc011cdn.1_Silent_p.I72I	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	190					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.G189E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGGAGGGGATCCCACTGGCTC	0.612000														34			8		0	0	0.000274275	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95162093	95162093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:95162093C>T	uc003htb.4	+	5	818	c.641C>T	c.(640-642)tCa>tTa	p.S214L	SMARCAD1_uc003htc.4_Missense_Mutation_p.S214L|SMARCAD1_uc003htd.4_Missense_Mutation_p.S214L|SMARCAD1_uc010ila.3_Missense_Mutation_p.S77L	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	214					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCTTCTTCTTCAGAGCCATAT	0.328000														61			7		0	0	0.000157383	0	0
PTPRT	11122	broad.mit.edu	37	20	40735493	40735493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40735493C>T	uc002xkg.3	-	23	3507	c.3323G>A	c.(3322-3324)gGg>gAg	p.G1108E	PTPRT_uc010ggj.3_Missense_Mutation_p.G1127E|PTPRT_uc010ggi.3_Missense_Mutation_p.G311E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1108	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCCACCACCCCTTCATTCTC	0.577000														49			15		0	0	0.000219431	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692527	8692528	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8692527_8692528AG>GA	uc001quo.1	-	1	218_219	c.53_54CT>TC	c.(52-54)tct>tTC	p.S18F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	18						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ACATTTGGGAAGAGAAGCATCC	0.406000														158			8		0	0	6.4e-05	0	0
WHSC1	7468	broad.mit.edu	37	4	1952827	1952827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:1952827C>T	uc003gdz.4	+	9	2086	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	WHSC1_uc003geb.4_Missense_Mutation_p.S637L|WHSC1_uc003gec.4_Missense_Mutation_p.S637L|WHSC1_uc003ged.4_Missense_Mutation_p.S637L|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_5'UTR|WHSC1_uc011bvh.2_5'UTR|WHSC1_uc010icf.3_5'Flank	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	637					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GACGAGCCCTCGGAGTCCCCA	0.552000			T	IGH@	MM									42			6		0	0	8.12818e-05	0	0
CHRM3	1131	broad.mit.edu	37	1	240071426	240071426	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:240071426C>T	uc021plc.1	+	0	675	c.675C>T	c.(673-675)ttC>ttT	p.F225F	CHRM3_uc001hyp.3_Silent_p.F225F	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	225					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCATTCAGTTCCTCAGTGAGC	0.458000														100			6		0	0	0.00116845	0	0
MECOM	2122	broad.mit.edu	37	3	168840516	168840516	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:168840516C>T	uc011bpj.1	-	6	1234	c.831_splice	c.e6-1	p.S277_splice	MECOM_uc010hwk.1_Splice_Site_p.S112_splice|MECOM_uc003ffj.3_Splice_Site_p.S153_splice|MECOM_uc003ffi.3_Splice_Site_p.S89_splice|MECOM_uc011bpi.1_Splice_Site_p.S89_splice|MECOM_uc003ffn.3_Splice_Site_p.S89_splice|MECOM_uc003ffk.2_Splice_Site_p.S89_splice|MECOM_uc003ffl.2_Splice_Site_p.S249_splice|MECOM_uc011bpk.1_Splice_Site_p.S89_splice|MECOM_uc010hwn.2_Splice_Site_p.S277_splice|MECOM_uc003ffm.1_Intron	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCTCCAGGCTGTTAAGAGA	0.368000														35			4		0	0	0.000602214	0	0
IL12B	3593	broad.mit.edu	37	5	158743783	158743783	+	Silent	SNP	G	A	A	rs150902695		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:158743783G>A	uc003lxr.1	-	6	939	c.897C>T	c.(895-897)atC>atT	p.I299I	RNU4ATAC_uc021ygw.1_5'Flank	NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	299	Fibronectin type-III.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTGCGGCAGATGACCGTGG	0.537000											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			6		0	0	0.000157383	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315848	30315848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30315848G>A	uc009xle.2	-	2	3366	c.3229C>T	c.(3229-3231)Ccc>Tcc	p.P1077S	KIAA1462_uc001iux.3_Missense_Mutation_p.P1077S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P939S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1077										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCACCTGGGGGGATTTCTATT	0.612000														84			12		0	0	0.000308642	0	0
MKX	283078	broad.mit.edu	37	10	28023495	28023495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:28023495C>T	uc001ity.4	-	4	953	c.728G>A	c.(727-729)gGa>gAa	p.G243E	MKX_uc001itx.4_Missense_Mutation_p.G243E	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	243					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCTTGTTTTTCCCATCATGGT	0.448000														85			11		0	0	0.000673444	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827688	31827688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31827688C>T	uc002wyt.4	+	3	470	c.400C>T	c.(400-402)Cct>Tct	p.P134S	BPIFA1_uc002wyu.4_Missense_Mutation_p.P134S|BPIFA1_uc002wyv.3_Missense_Mutation_p.P134S	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	134					innate immune response	extracellular region	lipid binding										TGTCACCATCCCTCTCGGCAT	0.552000														88			13		0	0	0.000219431	0	0
CD163	9332	broad.mit.edu	37	12	7639184	7639184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7639184C>T	uc001qsz.3	-	9	2497	c.2369G>A	c.(2368-2370)gGa>gAa	p.G790E	CD163_uc001qta.3_Missense_Mutation_p.G790E|CD163_uc009zfw.2_Missense_Mutation_p.G823E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	790	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGATTCTTTTCCATTGCATTT	0.522000														153			6		0	0	0.000274275	0	0
DLG5	9231	broad.mit.edu	37	10	79565592	79565592	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79565592G>A	uc001jzk.3	-	26	5065	c.4995C>T	c.(4993-4995)ctC>ctT	p.L1665L	DLG5_uc001jzi.3_Silent_p.L420L|DLG5_uc001jzj.3_Silent_p.L1080L|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1665					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGACATGCTGAGCCTCCTGG	0.582000														73			6		0	0	0.00116845	0	0
FLG	2312	broad.mit.edu	37	1	152281099	152281099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152281099C>T	uc001ezu.1	-	2	6299	c.6263G>A	c.(6262-6264)gGg>gAg	p.G2088E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2088	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAAGACCCTGAACGTCC	0.562000									Ichthyosis					156			16		0	0	0.000566183	0	0
TIAM1	7074	broad.mit.edu	37	21	32513747	32513747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:32513747G>A	uc002yow.1	-	21	4023	c.3551C>T	c.(3550-3552)tCg>tTg	p.S1184L	TIAM1_uc011adk.1_Missense_Mutation_p.S1184L|TIAM1_uc011adl.1_Missense_Mutation_p.S1124L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1184	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATGAGGTACGACTCCAGCGT	0.567000														104			13		0	0	0.000566183	0	0
FXR1	8087	broad.mit.edu	37	3	180688101	180688101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:180688101G>A	uc003fkq.3	+	14	1798	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	FXR1_uc003fkp.3_Missense_Mutation_p.G435R|FXR1_uc003fkr.3_Missense_Mutation_p.G520R|FXR1_uc011bqj.2_Missense_Mutation_p.G434R|FXR1_uc003fks.3_Missense_Mutation_p.G463R|FXR1_uc011bqk.2_Missense_Mutation_p.G471R|FXR1_uc011bql.2_Missense_Mutation_p.G507R	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	520					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTGATGGATGGAATGACTGA	0.388000														92			7		0	0	0.000978159	0	0
UBR5	51366	broad.mit.edu	37	8	103271215	103271215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:103271215G>A	uc003ykr.2	-	56	8554	c.8099C>T	c.(8098-8100)tCa>tTa	p.S2700L	UBR5_uc003yks.2_Missense_Mutation_p.S2699L|UBR5_uc003ykq.3_Missense_Mutation_p.S211L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2700	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTCCTACCTGATTCATCATT	0.343000														45			12		0	0	0.00185496	0	0
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:79118080C>T	uc022bif.1	+	0	783	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_uc010mpf.3_Silent_p.V261V|GCNT1_uc010mpg.3_Silent_p.V261V|GCNT1_uc010mph.3_Silent_p.V261V|GCNT1_uc004akf.4_Silent_p.V261V|GCNT1_uc010mpi.3_Silent_p.V261V|GCNT1_uc004akh.4_Silent_p.V261V	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	261	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463000														75			7		0	0	8.12818e-05	0	0
FLT3	2322	broad.mit.edu	37	13	28608116	28608116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:28608116C>T	uc001urw.3	-	14	1932	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.G617E	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	617	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(1)|p.V615_L616ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCACCTGATCCTAGTACCTT	0.403000			"""Mis, O"""		"""AML, ALL"""									129			20		0	0	0.00152264	0	0
BEND2	139105	broad.mit.edu	37	X	18221836	18221836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:18221836C>T	uc004cyj.4	-	4	846	c.692G>A	c.(691-693)gGt>gAt	p.G231D	BEND2_uc010nfb.2_Missense_Mutation_p.G231D	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	231								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATGGCATACCGAAACAAGG	0.453000														55			6		0	0	0.00116845	0	0
FAM217A	222826	broad.mit.edu	37	6	4069785	4069785	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:4069785C>T	uc003mvx.3	-	6	1078	c.672G>A	c.(670-672)ctG>ctA	p.L224L	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Silent_p.L161L	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	224																	GCTTCAAGTTCAGGTCCACCT	0.368000														172			15		0	0	0.00074312	0	0
B4GALNT3	283358	broad.mit.edu	37	12	663120	663120	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:663120C>T	uc001qii.1	+	13	2031	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	B4GALNT3_uc001qij.1_Silent_p.F580F|B4GALNT3_uc001qik.1_Silent_p.F226F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	677						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CGCGAGTCTTCTTGAAGAAGC	0.607000														39			16		0	0	0.000422831	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257232	114257232	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:114257232C>T	uc002tjw.4	+	0	572	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	133					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TCAGCGGCATCTGCGCCTTCA	0.627000														201			12		0	0	0.00074312	0	0
PTK7	5754	broad.mit.edu	37	6	43128564	43128564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:43128564C>T	uc011dve.1	+	19	3224	c.3182C>T	c.(3181-3183)tCc>tTc	p.S1061F	PTK7_uc003oub.1_Missense_Mutation_p.S1053F|PTK7_uc003ouc.1_Missense_Mutation_p.S997F|PTK7_uc003oud.1_Missense_Mutation_p.S1013F|PTK7_uc003oue.1_Missense_Mutation_p.S923F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Missense_Mutation_p.S379F|PTK7_uc003ouh.1_3'UTR	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	1053	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACCGGCCCTCCTTCAGTGAG	0.657000														27			5		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179640629	179640629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179640629C>T	uc021vsy.1	-	27	6187	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	TTN_uc021vsz.1_Missense_Mutation_p.E1942K|TTN_uc021vta.1_Missense_Mutation_p.E1942K|TTN_uc021vtb.1_Missense_Mutation_p.E1942K|TTN_uc002unb.2_Missense_Mutation_p.E1988K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1988							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACTTTTTCATGGGTAATT	0.443000														92			17		0	0	0.000566183	0	0
TPH2	121278	broad.mit.edu	37	12	72335394	72335394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:72335394G>A	uc009zrw.1	+	1	277	c.136G>A	c.(136-138)Gac>Aac	p.D46N	TPH2_uc001swy.2_5'UTR	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	46					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.D45D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAAAAATGACGACAAAGGCAA	0.393000														25			8		0	0	0.000274275	0	0
AMPH	273	broad.mit.edu	37	7	38433665	38433665	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:38433665G>A	uc003tgu.3	-	17	1764	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	AMPH_uc003tgv.3_Silent_p.T474T|AMPH_uc003tgt.3_Silent_p.T401T|AMPH_uc003tgw.1_Silent_p.T539T|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	516					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CACCCTCAGTGGTTTCAGTTC	0.602000														85			16		0	0	0.000566183	0	0
GFRAL	389400	broad.mit.edu	37	6	55264195	55264195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55264195G>A	uc003pcm.1	+	7	1163	c.1077G>A	c.(1075-1077)atG>atA	p.M359I		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	359						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATGTGCATGACAGTCACCT	0.328000														84			20		0	0	0.000720815	0	0
DSG4	147409	broad.mit.edu	37	18	28979385	28979385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:28979385C>T	uc002kwr.2	+	8	1291	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	DSG4_uc002kwq.2_Missense_Mutation_p.H386Y	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	386	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCTGCATTTCATCCAAGTAC	0.418000														52			6		0	0	8.12818e-05	0	0
CLCN1	1180	broad.mit.edu	37	7	143016847	143016847	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143016847G>A	uc003wcr.1	+	2	268	c.181_splice	c.e2-1	p.I61_splice	CLCN1_uc011ktc.1_Splice_Site|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	61					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTCTGTCCAGATTTATGGCC	0.463000														114			28		0	0	0.00106085	0	0
OR51E1	143503	broad.mit.edu	37	11	4674360	4674360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4674360G>A	uc021qcq.1	+	0	604	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	OR51E1_uc001lzi.4_Missense_Mutation_p.G202S	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202H(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCGTCTATGGCCTTATCGT	0.498000														103			13		0	0	0.000219431	0	0
PNISR	25957	broad.mit.edu	37	6	99848994	99848995	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:99848994_99848995GG>AA	uc003ppo.4	-	11	2067_2068	c.1839_1840CC>TT	c.(1837-1842)tcccga>tcTTga	p.R614*	PNISR_uc021zdc.1_5'Flank|PNISR_uc021zdd.1_5'UTR|PNISR_uc003ppp.4_Nonsense_Mutation_p.R614*|PNISR_uc011eag.2_Nonsense_Mutation_p.R614*	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	614						nuclear speck		p.R614*(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGTCTCTCTCGGGAAGGACTCC	0.436000														52			6		0	0	6.4e-05	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597967	3597967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:3597967G>A	uc002qxt.3	-	3	595	c.505C>T	c.(505-507)Cct>Tct	p.P169S	RNASEH1_uc002qxs.3_Missense_Mutation_p.P52S	NM_002936	NP_002927	O60930	RNH1_HUMAN	Homo sapiens ribonuclease H1 (RNASEH1), mRNA.	169	RNase H.				RNA catabolic process	cytoplasm	RNA binding|magnesium ion binding|ribonuclease H activity			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ACTTACAAAGGATGGCCTGGC	0.493000														154			9		0	0	0.000673444	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914561	147914561	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:147914561C>T	uc003weu.2	+	18	3708	c.3192C>T	c.(3190-3192)ctC>ctT	p.L1064L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1064	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTGCATTCTCCTCTACATCA	0.567000										HNSCC(39;0.1)				87			27		0	0	0.00106085	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558336	140558336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140558336C>T	uc011dai.2	+	0	966	c.721C>T	c.(721-723)Cct>Tct	p.P241S	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	241	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATAATGCCCCTGAATTTGA	0.502000														790			14		0	0	0.000958276	0	0
VEGFC	7424	broad.mit.edu	37	4	177650846	177650846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:177650846C>T	uc003ius.1	-	1	632	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	68					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTCATGAGTTCATCTACACTG	0.438000														22			5		0	0	0.00116845	0	0
DCN	1634	broad.mit.edu	37	12	91572192	91572192	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:91572192G>A	uc001tbt.3	-	1	392	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DCN_uc001tbo.3_Silent_p.F46F|DCN_uc001tbp.3_Silent_p.F46F|DCN_uc001tbq.3_Silent_p.F46F|DCN_uc001tbr.3_Silent_p.F46F|DCN_uc001tbu.3_Silent_p.F46F	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	46					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GGGAGGGCTCGAAGTCGCGGT	0.527000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			5		0	0	0.000602214	0	0
NR1D2	9975	broad.mit.edu	37	3	23996151	23996151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:23996151C>T	uc003ccs.2	+	1	459	c.140C>T	c.(139-141)tCt>tTt	p.S47F	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	47					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CCAAATAGCTCTAATTCTGAT	0.428000														95			10		0	0	0.000673444	0	0
RNF17	56163	broad.mit.edu	37	13	25362210	25362210	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25362210G>A	uc001upr.3	+	6	737	c.696G>A	c.(694-696)gaG>gaA	p.E232E	RNF17_uc010tdd.1_Silent_p.E91E|RNF17_uc010tde.2_Silent_p.E232E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.E171E|RNF17_uc001upq.1_Silent_p.E232E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	232					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E231E(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACATTGAAGAGAAAAAAAATA	0.308000														94			19		0	0	0.00152264	0	0
NEB	4703	broad.mit.edu	37	2	152423779	152423779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152423779C>T	uc021vrb.1	-	84	12985	c.12956G>A	c.(12955-12957)aGt>aAt	p.S4319N	NEB_uc002txr.3_Missense_Mutation_p.S785N|NEB_uc002txu.3_Missense_Mutation_p.S6020N|NEB_uc021vrc.1_Missense_Mutation_p.S6020N|NEB_uc010fnx.3_Missense_Mutation_p.S4307N|NEB_uc021vrd.1_Missense_Mutation_p.S4319N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4319					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCAATATCACTGACAAGGGT	0.433000														84			7		0	0	0.000157383	0	0
KRT83	3889	broad.mit.edu	37	12	52709720	52709720	+	Missense_Mutation	SNP	C	T	T	rs57802288		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:52709720C>T	uc001saf.2	-	6	1282	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	407	Coil 2.|Rod.		E -> K (in MLTRX).		epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGGCGATCTCGATATCCAGG	0.607000														46			11		0	0	0.00185496	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446852	202446852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:202446852C>T	uc002uyf.3	-	4	657	c.605G>A	c.(604-606)gGg>gAg	p.G202E	ALS2CR11_uc002uye.3_Missense_Mutation_p.G202E|ALS2CR11_uc010fti.3_Missense_Mutation_p.G202E|ALS2CR11_uc021vvc.1_Missense_Mutation_p.G202E	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	202										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTGAACACTCCCTAACAAGAA	0.343000														71			16		0	0	0.000566183	0	0
RALYL	138046	broad.mit.edu	37	8	85774624	85774624	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:85774624G>A	uc003yct.4	+	5	680	c.546G>A	c.(544-546)ggG>ggA	p.G182G	RALYL_uc003ycq.4_Silent_p.G169G|RALYL_uc003ycr.4_Silent_p.G169G|RALYL_uc003ycs.4_Silent_p.G169G|RALYL_uc010lzy.3_Silent_p.G158G|RALYL_uc003ycu.4_Silent_p.G96G	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	169							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTCGCAGGGGGAAAGGAGTCT	0.473000														11			5		0	0	0.000602214	0	0
PAK7	57144	broad.mit.edu	37	20	9546830	9546830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:9546830C>T	uc002wnl.2	-	5	1737	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PAK7_uc002wnk.2_Missense_Mutation_p.A398T|PAK7_uc002wnj.2_Missense_Mutation_p.A398T|PAK7_uc010gby.1_Missense_Mutation_p.A398T	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	398	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T397K(2)|p.T397T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGTAGGAAGCCGTGGAGATG	0.617000														48			6		0	0	0.00116845	0	0
LCT	3938	broad.mit.edu	37	2	136545943	136545943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:136545943C>T	uc002tuu.1	-	16	5746	c.5735G>A	c.(5734-5736)gGg>gAg	p.G1912E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1912					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGTGTTTTCCCTTGCTTAGA	0.453000														187			31		0	0	0.000814825	0	0
LRRC17	10234	broad.mit.edu	37	7	102574604	102574604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:102574604G>A	uc003vau.3	+	1	633	c.244G>A	c.(244-246)Gat>Aat	p.D82N	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.D82N	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	82					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTGGCCTCAGGATTTGCTGCA	0.438000														65			16		0	0	0.00074312	0	0
COL19A1	1310	broad.mit.edu	37	6	70897794	70897794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:70897794C>T	uc003pfc.1	+	46	2989	c.2872C>T	c.(2872-2874)Cca>Tca	p.P958S		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	958	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCAGGGGATTCCAGGAGACAG	0.478000														38			8		0	0	0.000442599	0	0
IKZF3	22806	broad.mit.edu	37	17	37922237	37922237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:37922237C>T	uc002hsu.3	-	7	1398	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	IKZF3_uc002htd.3_Missense_Mutation_p.G412R|IKZF3_uc010cwd.3_Missense_Mutation_p.G303R|IKZF3_uc002hsv.3_Missense_Mutation_p.G373R|IKZF3_uc010cwe.3_Missense_Mutation_p.G312R|IKZF3_uc010cwf.3_Missense_Mutation_p.G264R|IKZF3_uc010cwg.3_Missense_Mutation_p.G225R|IKZF3_uc002hsw.3_Missense_Mutation_p.G407R|IKZF3_uc002hsx.3_Missense_Mutation_p.G390R|IKZF3_uc002hsy.3_Missense_Mutation_p.G407R|IKZF3_uc002hsz.3_Missense_Mutation_p.G351R|IKZF3_uc002hta.3_Missense_Mutation_p.G368R|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.G359R|IKZF3_uc002htc.3_Missense_Mutation_p.G199R|IKZF3_uc010wel.2_Missense_Mutation_p.G199R	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	446					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCACCTCCCCTTCCTTGTTG	0.567000														74			21		0	0	0.000295444	0	0
OR2A5	393046	broad.mit.edu	37	7	143748358	143748358	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143748358G>A	uc011ktw.2	+	0	864	c.864G>A	c.(862-864)ttG>ttA	p.L288L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCC	0.527000														71			11		0	0	0.000308642	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106386	147106386	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:147106386G>A	uc004fcm.3	+	5	707	c.633_splice	c.e5-1	p.S211_splice		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	211						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTACAGCGAACCGGCCGA	0.368000														37			17		0	0	0.00152264	0	0
MYH7	4625	broad.mit.edu	37	14	23900877	23900877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:23900877C>T	uc001wjx.3	-	7	755	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	217	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTGGTCCTCCAGGGTGCCC	0.627000														42			12		0	0	0.00136819	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32976027	32976027	+	Missense_Mutation	SNP	C	T	T	rs41541916		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32976027C>T	uc003ocr.3	-	1	170	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	HLA-DOA_uc010juj.3_Missense_Mutation_p.G2S|HLA-DOA_uc010jui.3_Missense_Mutation_p.G32S	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	32	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGTAGGAGCCCATGTGGTCA	0.517000														44			4		0	0	8.12818e-05	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491913	117491913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117491913C>T	uc001egv.1	+	3	1069	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	311	Ig-like C2-type 3.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACGTCCGGCCCGAGGTGACG	0.607000														38			6		0	0	0.00116845	0	0
GPR148	344561	broad.mit.edu	37	2	131487424	131487424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:131487424C>T	uc002trv.2	+	0	782	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	234						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTGCACAGCTCTCATTGCCAA	0.572000														82			15		0	0	0.000308642	0	0
PTPN6	5777	broad.mit.edu	37	12	7065716	7065716	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7065716G>A	uc001qsb.2	+	8	1301	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	PTPN6_uc001qsa.1_Silent_p.E355E|PTPN6_uc010sfr.1_Silent_p.E314E|PTPN6_uc009zfl.1_Silent_p.E353E|PTPN6_uc010sfs.1_Silent_p.E341E	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	353	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCACCCGAGAGGTGGAGAAAG	0.622000														49			13		0	0	0.000219431	0	0
TDRD1	56165	broad.mit.edu	37	10	115963905	115963905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:115963905G>A	uc001lbg.1	+	8	1208	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	TDRD1_uc001lbf.3_Missense_Mutation_p.G343E|TDRD1_uc001lbh.1_Missense_Mutation_p.G343E|TDRD1_uc001lbi.1_Missense_Mutation_p.G343E|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.G61E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	352	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTGATTATGGAAATGAAGAA	0.338000														74			10		0	0	0.000978159	0	0
TDRD5	163589	broad.mit.edu	37	1	179587782	179587782	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:179587782A>G	uc010pnp.2	+	4	1398	c.880A>G	c.(880-882)Act>Gct	p.T294A	TDRD5_uc021pfm.1_Missense_Mutation_p.T294A|TDRD5_uc001gnf.2_Missense_Mutation_p.T294A|TDRD5_uc021pfn.1_Missense_Mutation_p.T294A|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	294					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACCTGGAGGAACTATCAGTTC	0.313000														43			15		0	0	0.000958276	0	0
FOLR3	2352	broad.mit.edu	37	11	71847057	71847057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:71847057G>A	uc001ory.1	+	1	109	c.59G>A	c.(58-60)gGg>gAg	p.G20E	FOLR3_uc001orx.1_Missense_Mutation_p.G20E			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	18					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACTGCTGCGGGGAGTGCCCAG	0.617000														122			19		0	0	0.00152264	0	0
ATP10B	23120	broad.mit.edu	37	5	160033961	160033961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:160033961C>T	uc003lym.1	-	18	3818	c.2971G>A	c.(2971-2973)Gtt>Att	p.V991I	ATP10B_uc010jit.1_Missense_Mutation_p.V308I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	991					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTCTGGAACCACAGCTTCT	0.478000														73			11		0	0	0.00185496	0	0
LMO2	4005	broad.mit.edu	37	11	33886175	33886175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:33886175C>T	uc001mve.3	-	1	669	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	LMO2_uc001mvc.3_Missense_Mutation_p.R70Q|LMO2_uc001mvd.3_Missense_Mutation_p.R70Q|LMO2_uc010rel.2_Missense_Mutation_p.R77Q|LMO2_uc010rem.2_Missense_Mutation_p.R146Q	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	77	LIM zinc-binding 1.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGAGCTTCCGGCCCAGTTT	0.652000			T	TRD@	T-ALL									33			7		0	0	0.000274275	0	0
CYP3A4	1576	broad.mit.edu	37	7	99355843	99355843	+	Silent	SNP	C	T	T	rs28371761		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:99355843C>T	uc003urv.2	-	12	1532	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	CYP3A4_uc003urw.2_Silent_p.L474L|CYP3A4_uc011kiz.2_Silent_p.L434L	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	475					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCTTAATTTCAGGGGGATCT	0.403000														81			7		0	0	8.12818e-05	0	0
CCDC14	64770	broad.mit.edu	37	3	123665924	123665924	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123665924A>G	uc011bjx.2	-	7	1162	c.1071T>C	c.(1069-1071)ctT>ctC	p.L357L	CCDC14_uc003egv.4_Intron|CCDC14_uc003egx.4_Silent_p.L157L|CCDC14_uc010hrt.3_Silent_p.L316L|CCDC14_uc003egy.4_Silent_p.L157L|CCDC14_uc003egz.2_Silent_p.L157L	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	357						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGATCGAAAAAGAGACAAAT	0.408000														134			9		0	0	0.000442599	0	0
FAT4	79633	broad.mit.edu	37	4	126240026	126240026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:126240026G>A	uc003ifj.4	+	0	2460	c.2460G>A	c.(2458-2460)atG>atA	p.M820I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	820	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCCACCATGGATCTCAATT	0.463000														67			12		0	0	0.00136819	0	0
TLK2	11011	broad.mit.edu	37	17	60678136	60678136	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:60678136T>C	uc010ddp.3	+	18	2009	c.1741T>C	c.(1741-1743)Tta>Cta	p.L581L	TLK2_uc002izx.4_Silent_p.L407L|TLK2_uc002izz.4_Silent_p.L559L|TLK2_uc002jaa.4_Silent_p.L527L|TLK2_uc010wpd.2_Silent_p.L527L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	581	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTTAAAGTACTTAAATGAAAT	0.383000														44			15		0	0	0.000958276	0	0
ALG1	56052	broad.mit.edu	37	16	5128005	5128005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:5128005C>T	uc002cym.3	+	5	768	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S	ALG1_uc002cyj.3_Missense_Mutation_p.P132S|ALG1_uc010bue.3_Missense_Mutation_p.P132S	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	243					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CATGCACTCTCCGTTCAGGGC	0.612000														38			10		0	0	0.00185496	0	0
OSTN	344901	broad.mit.edu	37	3	190967863	190967863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:190967863C>T	uc011bsn.2	+	2	355	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_198184	NP_937827	P61366	OSTN_HUMAN	Homo sapiens osteocrin (OSTN), mRNA.	119					cell differentiation|multicellular organismal development|ossification		hormone activity	p.I118S(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		ATTTGGTATCCCCATGGATCG	0.353000														145			7		0	0	0.000157383	0	0
RIOK2	55781	broad.mit.edu	37	5	96512855	96512855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:96512855G>A	uc003kmz.3	-	3	573	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	RIOK2_uc003kna.3_Missense_Mutation_p.R155C	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	155			R -> H (in dbSNP:rs34916955).				ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GCAGAGAGACGAGATAAATAT	0.338000														122			24		0	0	0.00047179	0	0
NLRP3	114548	broad.mit.edu	37	1	247588501	247588501	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:247588501C>T	uc001icr.3	+	4	1894	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	NLRP3_uc001ics.3_Nonsense_Mutation_p.Q586*|NLRP3_uc001icu.3_Nonsense_Mutation_p.Q586*|NLRP3_uc001icw.3_Nonsense_Mutation_p.Q586*|NLRP3_uc001icv.3_Nonsense_Mutation_p.Q586*|NLRP3_uc010pyw.2_Nonsense_Mutation_p.Q584*|NLRP3_uc001ict.1_Nonsense_Mutation_p.Q584*	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	586					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGTAAACCAGGAGAGGAC	0.448000														54			5		0	0	0.000602214	0	0
TAF1L	138474	broad.mit.edu	37	9	32632916	32632916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:32632916G>A	uc003zrg.1	-	0	2752	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	888					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R888C(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTGGTAAACGAAAATCAGAC	0.478000														91			21		0	0	0.00047179	0	0
C1orf141	400757	broad.mit.edu	37	1	67592915	67592915	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:67592915T>A	uc001ddl.1	-	1	120	c.9A>T	c.(7-9)gaA>gaT	p.E3D	C1orf141_uc001ddm.1_Missense_Mutation_p.E3D|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	3										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CTAGGATTTTTTCTGCCATTG	0.318000														143			9		0	0	0.000274275	0	0
GLIS3	169792	broad.mit.edu	37	9	4118625	4118625	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:4118625T>A	uc003zhx.1	-	3	1566	c.853A>T	c.(853-855)Agt>Tgt	p.S285C	GLIS3_uc003zic.1_Missense_Mutation_p.S285C|GLIS3_uc003zie.1_Missense_Mutation_p.S285C|GLIS3_uc010mhh.1_Missense_Mutation_p.S160C|GLIS3_uc003zid.1_Missense_Mutation_p.S63C|GLIS3_uc010mhi.1_Missense_Mutation_p.S92C|GLIS3_uc003zif.1_Missense_Mutation_p.S63C|GLIS3_uc003zih.1_Missense_Mutation_p.S63C|GLIS3_uc003zig.1_Missense_Mutation_p.S129C|GLIS3_uc003zhw.1_Missense_Mutation_p.S130C|GLIS3_uc003zhy.1_Missense_Mutation_p.S63C|GLIS3_uc003zhz.1_Missense_Mutation_p.S63C|GLIS3_uc003zib.1_Missense_Mutation_p.S129C|GLIS3_uc010mhg.1_Missense_Mutation_p.S63C	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	130					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGCCGAGGACTAGGGTAAGGA	0.547000														94			13		0	0	0.000422831	0	0
NKD2	85409	broad.mit.edu	37	5	1032303	1032303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:1032303C>T	uc003jbt.1	+	3	183	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	NKD2_uc010itf.1_Missense_Mutation_p.R60W	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	60	Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGGGCCTTTCCGGGAGGACCA	0.642000														48			9		0	0	0.000978159	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717004	13717004	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13717004G>A	uc001rbt.2	-	12	3347	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1056				I -> M (in Ref. 5; AAA69920).	response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATCGGAGCGGATCAAGTCGT	0.567000														27			4		0	0	0.000602214	0	0
PCDH18	54510	broad.mit.edu	37	4	138449898	138449898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:138449898G>A	uc003ihe.4	-	1	2951	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F	PCDH18_uc003ihf.4_Missense_Mutation_p.S847F|PCDH18_uc011cgz.2_Missense_Mutation_p.S66F|PCDH18_uc003ihg.4_Missense_Mutation_p.S634F|PCDH18_uc011cha.2_Missense_Mutation_p.S35F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	855					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAGCTCCTGGAATATTTGTT	0.363000														96			9		0	0	0.000673444	0	0
DTNA	1837	broad.mit.edu	37	18	32395972	32395972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:32395972G>A	uc010dmn.1	+	5	704	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	DTNA_uc002kxu.2_Missense_Mutation_p.E235K|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.E235K|DTNA_uc002kxw.2_Missense_Mutation_p.E235K|DTNA_uc002kxx.2_Missense_Mutation_p.E235K|DTNA_uc002kxz.2_Missense_Mutation_p.E235K|DTNA_uc002kxy.2_Missense_Mutation_p.E235K|DTNA_uc010dmj.3_Missense_Mutation_p.E235K|DTNA_uc002kyb.4_Missense_Mutation_p.E235K|DTNA_uc010dml.3_Missense_Mutation_p.E235K|DTNA_uc010dmm.3_Missense_Mutation_p.E235K|DTNA_uc010xby.1_5'Flank|DTNA_uc021uiq.1_5'Flank|DTNA_uc021uir.1_5'Flank|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	235	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGCAAATGTGGAAAATGGTGA	0.418000														119			29		0	0	0.00178596	0	0
RBM17	84991	broad.mit.edu	37	10	6151963	6151963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:6151963C>T	uc001ijb.3	+	6	803	c.577C>T	c.(577-579)Cct>Tct	p.P193S	RBM17_uc010qav.2_Missense_Mutation_p.P193S	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	193					RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCGAGATTTTCCTTATGAAGA	0.428000														82			5		0	0	8.12818e-05	0	0
PIEZO2	63895	broad.mit.edu	37	18	10681664	10681664	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:10681664C>T	uc002kos.2	-	46	7608	c.7434G>A	c.(7432-7434)agG>agA	p.R2478R	PIEZO2_uc002koq.3_Silent_p.R270R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2478						integral to membrane	ion channel activity										TTACGGTGTCCCTAGAAAAAG	0.403000														93			10		0	0	0.00136819	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465112	70465112	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:70465112C>T	uc011caq.2	-	4	1462	c.1346_splice	c.e4-1	p.G449_splice	UGT2A1_uc010ihu.3_Splice_Site_p.G283_splice|UGT2A1_uc003hem.4_Splice_Site_p.G239_splice|UGT2A1_uc010ihs.3_Splice_Site_p.G248_splice|UGT2A1_uc021xox.1_Splice_Site_p.G248_splice|UGT2A1_uc010iht.3_Splice_Site_p.G239_splice	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	239					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTGGGTCTTCCTGGAGAAAA	0.358000														51			6		0	0	8.12818e-05	0	0
OBSCN	84033	broad.mit.edu	37	1	228467961	228467961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:228467961C>T	uc009xez.1	+	28	7789	c.7745C>T	c.(7744-7746)tCc>tTc	p.S2582F	OBSCN_uc001hsn.3_Missense_Mutation_p.S2582F|OBSCN_uc001hsp.1_Missense_Mutation_p.S281F|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2582	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGAGCTGTCCCACGAGGAT	0.637000														19			5		0	0	0.000602214	0	0
FEM1B	10116	broad.mit.edu	37	15	68582855	68582855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:68582855C>T	uc002arg.3	+	1	1774	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	FEM1B_uc002arh.3_Nonsense_Mutation_p.R307*	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	Homo sapiens fem-1 homolog b (C. elegans) (FEM1B), mRNA.	387					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.R387*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGATCTTCTTCGATTTGCTCA	0.398000														64			11		0	0	0.00136819	0	0
FGFR3	2261	broad.mit.edu	37	4	1806142	1806142	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:1806142C>T	uc003gdr.3	+	8	1417	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	FGFR3_uc003gdu.2_Silent_p.I389I|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Silent_p.I387I	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	387					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.F386L(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCTGTTCATCCTGGTGGTGG	0.657000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					130			15		0	0	0.000566183	0	0
RBP1	5947	broad.mit.edu	37	3	139237345	139237345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:139237345C>T	uc003eti.2	-	2	569	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	91						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	GAGCTTGTCTCCGTCCCAGCT	0.607000														42			5		0	0	0.00116845	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627282	31627282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31627282C>T	uc010zuc.2	+	9	1030	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	BPIFB6_uc010zud.2_Missense_Mutation_p.R283W	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	344						extracellular region	lipid binding										GTTCGCAGCTCGGTGGCGGAG	0.527000														106			11		0	0	0.00136819	0	0
CDS1	1040	broad.mit.edu	37	4	85556427	85556427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:85556427C>T	uc011ccv.2	+	7	1231	c.733C>T	c.(733-735)Cca>Tca	p.P245S	CDS1_uc010ike.1_Missense_Mutation_p.P49S	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	245					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTTCCTTGTTCCAATATCAAG	0.303000														80			10		0	0	0.000673444	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796671	43796671	+	Silent	SNP	C	T	T	rs140620963		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:43796671C>T	uc002zbb.2	-	10	1374	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	TMPRSS3_uc002zay.2_Silent_p.T148T|TMPRSS3_uc002zaz.2_Silent_p.T264T|TMPRSS3_uc002zba.2_Silent_p.T264T|TMPRSS3_uc002zbc.2_Silent_p.T390T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	391	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCACGCCACCCGTCAGGTAGC	0.657000											OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		46			7		0	0	8.12818e-05	0	0
MYOM3	127294	broad.mit.edu	37	1	24413179	24413179	+	Missense_Mutation	SNP	C	T	T	rs140144262		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:24413179C>T	uc001bin.4	-	14	1916	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	MYOM3_uc001bim.4_Missense_Mutation_p.D242N|MYOM3_uc001bio.3_Missense_Mutation_p.D585N|MYOM3_uc001bip.1_Missense_Mutation_p.D242N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	585	Fibronectin type-III 2.							p.D585N(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAGGGATCGCTCAGGCCA	0.632000														44			8		0	0	0.000442599	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811524	38811524	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:38811524G>A	uc001zke.4	-	3	553	c.375C>T	c.(373-375)atC>atT	p.I125I	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_5'UTR|RASGRP1_uc010bbg.3_5'UTR|RASGRP1_uc001zkd.4_Silent_p.I125I	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	125	N-terminal Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CAAAATAACAGATCTTCAGGC	0.423000														87			19		0	0	0.000375601	0	0
GRWD1	83743	broad.mit.edu	37	19	48953670	48953670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48953670C>T	uc002pjd.2	+	3	802	c.569C>T	c.(568-570)cCc>cTc	p.P190L		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	190						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GTGGAGGAGCCCCAGGCCCTG	0.642000														54			9		0	0	0.000274275	0	0
NTN4	59277	broad.mit.edu	37	12	96104296	96104296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:96104296C>T	uc001tei.3	-	4	1552	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	NTN4_uc009ztf.3_Missense_Mutation_p.G368E|NTN4_uc009ztg.3_Missense_Mutation_p.G331E	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	368	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCAATACTGTCCTTCTGTGTT	0.512000														46			5		0	0	0.000602214	0	0
PDE4D	5144	broad.mit.edu	37	5	58271613	58271613	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:58271613G>A	uc003jsa.2	-	13	2056	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	PDE4D_uc003jrx.2_Silent_p.L492L|PDE4D_uc003jry.3_Silent_p.L326L|PDE4D_uc003jrz.3_Silent_p.L564L|PDE4D_uc003jsb.3_Silent_p.L567L|PDE4D_uc003jrt.2_Silent_p.L326L|PDE4D_uc003jru.3_Silent_p.L404L|PDE4D_uc003jrv.2_Silent_p.L498L|PDE4D_uc003jrw.2_Silent_p.L506L|PDE4D_uc003jrs.2_Silent_p.L337L	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	628					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.S627T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGTACAGCTGGAGAGGCTTTG	0.493000														46			11		0	0	0.000219431	0	0
COL4A4	1286	broad.mit.edu	37	2	227886850	227886850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:227886850C>T	uc021vxr.1	-	42	4231	c.4130G>A	c.(4129-4131)cGa>cAa	p.R1377Q	COL4A4_uc021vxs.1_Missense_Mutation_p.R1374Q	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1377	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R1377Q(2)|p.P1376R(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCTGGGATTCGGGGACAGTC	0.582000														122			8		0	0	0.000274275	0	0
UBE3C	9690	broad.mit.edu	37	7	156974326	156974326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:156974326C>T	uc010lqs.3	+	6	1043	c.731C>T	c.(730-732)cCa>cTa	p.P244L	UBE3C_uc003wnf.2_Missense_Mutation_p.P201L|UBE3C_uc003wng.2_Missense_Mutation_p.P244L	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	244					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTCTAAAACCATTGCACTTT	0.353000														119			7		0	0	0.000274275	0	0
USPL1	10208	broad.mit.edu	37	13	31195957	31195958	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:31195957_31195958GG>TT	uc001utc.2	+	2	588_589	c.156_157GG>TT	c.(154-159)aaggga>aaTTga	p.52_53KG>N*	USPL1_uc001utb.3_5'UTR|USPL1_uc001utd.2_5'UTR	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	52					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K52E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GTAGAGAGAAGGGAAAGTTAAA	0.302000														242			9		0	0	6.4e-05	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883126	228883126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228883126G>A	uc002vpq.2	-	6	2491	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S815L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S815L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	815						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGACTACGTGATAATTGTGA	0.458000														102			7		0	0	0.000442599	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825839	146825839	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:146825839A>T	uc003weu.2	+	6	1510	c.994A>T	c.(994-996)Aat>Tat	p.N332Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	332	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTAGAAAGAATTTCAAAGG	0.398000										HNSCC(39;0.1)				79			12		0	0	0.00185496	0	0
COL5A1	1289	broad.mit.edu	37	9	137717680	137717680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:137717680C>T	uc004cfe.3	+	62	5379	c.4997C>T	c.(4996-4998)tCc>tTc	p.S1666F	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1666	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.D1665N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCAGGGATTCCTTCAAGGTT	0.567000														46			5		0	0	8.12818e-05	0	0
DUXA	503835	broad.mit.edu	37	19	57670544	57670545	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:57670544_57670545CC>TT	uc002qoa.1	-	2	327_328	c.282_283GG>AA	c.(280-285)gtggag>gtAAag	p.E95K		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CTTTGAAACTCCACACCAGGTT	0.475000														58			8		0	0	6.4e-05	0	0
MLLT4	4301	broad.mit.edu	37	6	168370476	168370476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:168370476C>T	uc021zik.1	+	32	5526	c.5207C>T	c.(5206-5208)tCa>tTa	p.S1736L	MLLT4_uc021zij.1_Missense_Mutation_p.S1698L|MLLT4_uc021zim.1_Missense_Mutation_p.S1336L	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1779					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCAGATTCACCTGGAAGT	0.428000			T	MLL	AL									41			5		0	0	8.12818e-05	0	0
SSPO	23145	broad.mit.edu	37	7	149498848	149498848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:149498848C>T	uc010lpk.3	+	49	7291	c.7291C>T	c.(7291-7293)Cct>Tct	p.P2431S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2434					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TATGTGGCTCCCTTCTCTCCC	0.597000														22			6		0	0	8.12818e-05	0	0
CDH26	60437	broad.mit.edu	37	20	58547080	58547080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:58547080G>A	uc002ybe.3	+	3	606	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	99	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGTGTGGATGAATATCCAGA	0.398000														80			27		0	0	0.00178596	0	0
FLRT3	23767	broad.mit.edu	37	20	14306382	14306382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:14306382C>T	uc021war.1	-	0	1771	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.E591K|FLRT3_uc002wow.2_Missense_Mutation_p.E591K	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	591					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAAGAAGTTTCCCTGATTTCC	0.413000														65			12		0	0	0.000219431	0	0
MYO18B	84700	broad.mit.edu	37	22	26239782	26239782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26239782G>A	uc003abz.1	+	17	3539	c.3289G>A	c.(3289-3291)Gac>Aac	p.D1097N	MYO18B_uc003aca.1_Missense_Mutation_p.D978N|MYO18B_uc010guy.1_Missense_Mutation_p.D979N|MYO18B_uc010guz.1_Missense_Mutation_p.D978N|MYO18B_uc011aka.1_Missense_Mutation_p.D251N|MYO18B_uc011akb.1_Missense_Mutation_p.D610N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1097	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGCGGTACGACCTCACGGG	0.622000														34			11		0	0	0.000978159	0	0
KCNK18	338567	broad.mit.edu	37	10	118969155	118969155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:118969155G>A	uc010qsr.2	+	2	500	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	167						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AATCGGTTCCGAAAATTCCCT	0.507000														98			7		0	0	0.000157383	0	0
CPQ	10404	broad.mit.edu	37	8	98041631	98041631	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:98041631G>A	uc003yhw.3	+	6	1128	c.962_splice	c.e6-1	p.G321_splice		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	321					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ATTTTCCCAGGGCTGCGTCCA	0.423000														19			5		0	0	8.12818e-05	0	0
IMPG1	3617	broad.mit.edu	37	6	76715077	76715077	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:76715077G>A	uc003pik.1	-	9	1192	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	354					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.D354A(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCTTTTGAGGTCTGTAGCTG	0.423000														65			7		0	0	8.12818e-05	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919613	12919613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12919613G>A	uc001aum.1	+	2	440	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	118										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCCTGGAGCCTGGGCC	0.537000														167			47		0	0	0.000781405	0	0
DAB1	1600	broad.mit.edu	37	1	57476414	57476414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57476414C>T	uc009vzx.1	-	13	1942	c.1622G>A	c.(1621-1623)aGt>aAt	p.S541N	DAB1_uc001cyt.1_Missense_Mutation_p.S539N|DAB1_uc001cyq.1_Missense_Mutation_p.S539N|DAB1_uc001cyr.1_Missense_Mutation_p.S455N|DAB1_uc009vzw.1_Missense_Mutation_p.S523N|DAB1_uc001cys.1_Missense_Mutation_p.S541N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	574					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGCTCCCCACTGGGCTCACC	0.448000														81			5		0	0	0.000157383	0	0
STK31	56164	broad.mit.edu	37	7	23826481	23826481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:23826481G>A	uc003sws.4	+	19	2492	c.2425G>A	c.(2425-2427)Gtc>Atc	p.V809I	STK31_uc003swt.4_Missense_Mutation_p.V786I|STK31_uc011jze.2_Missense_Mutation_p.V809I|STK31_uc010kuq.3_Missense_Mutation_p.V786I|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	809	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M808I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATCTGATGGTCCCATACTA	0.358000														102			17		0	0	0.00152264	0	0
BATF2	116071	broad.mit.edu	37	11	64756799	64756799	+	Missense_Mutation	SNP	G	A	A	rs143335032	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64756799G>A	uc021qlb.1	-	0	1188	c.647C>T	c.(646-648)tCg>tTg	p.S216L	BATF2_uc001oce.1_Silent_p.L124L|BATF2_uc001ocf.1_Silent_p.L209L	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	209						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T215A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCTCCAGCTCGAGGGGCTGTG	0.642000														22			5		0	0	0.000157383	0	0
LRRC66	339977	broad.mit.edu	37	4	52860873	52860873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:52860873G>A	uc003gzi.3	-	3	2322	c.2315C>T	c.(2314-2316)cCc>cTc	p.P772L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	772						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTCAAAGGGATCTTCTTG	0.468000														48			9		0	0	0.000442599	0	0
DAB2	1601	broad.mit.edu	37	5	39393445	39393445	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:39393445C>A	uc003jlx.3	-	2	673	c.142G>T	c.(142-144)Gta>Tta	p.V48L	DAB2_uc003jlw.3_Missense_Mutation_p.V48L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	48	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTATATTTTACACCATCGCCT	0.393000														134			11		2.27111e-07	1.17911e-06	0.00136819	1	0
SNTG2	54221	broad.mit.edu	37	2	1263174	1263174	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1263174G>A	uc002qwq.3	+	12	1167	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	SNTG2_uc010ewi.3_Silent_p.R219R	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	346	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGCAGAAAGGACCTATCACC	0.398000														95			5		0	0	0.00116845	0	0
FAM5C	339479	broad.mit.edu	37	1	190067958	190067958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:190067958C>T	uc001gse.1	-	7	1723	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	FAM5C_uc010pot.1_Missense_Mutation_p.M395I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	497						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGATATTTCATCTCGAGAT	0.498000														110			34		0	0	0.00128727	0	0
COL4A5	1287	broad.mit.edu	37	X	107865032	107865032	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107865032G>A	uc022ccg.1	+	32	2880	c.2678_splice	c.e32-1	p.G893_splice	COL4A5_uc004enz.1_Splice_Site_p.G893_splice|COL4A5_uc004eob.1_Splice_Site_p.G501_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	893	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTCTTCAAAGGTACCAAAGG	0.413000									Alport syndrome with Diffuse Leiomyomatosis					21			8		0	0	0.000274275	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443058	72443058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:72443058C>T	uc002jkp.3	+	3	1863	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L	GPRC5C_uc002jkq.3_3'UTR|GPRC5C_uc002jkr.3_Missense_Mutation_p.S418L|GPRC5C_uc002jkt.3_Missense_Mutation_p.S406L|GPRC5C_uc002jku.3_Missense_Mutation_p.S161L	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	406						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGTGCCAACTCGACCCTGCGG	0.607000														47			6		0	0	8.12818e-05	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481416	95481416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:95481416G>A	uc010fhq.2	-	1	964	c.572C>T	c.(571-573)tCt>tTt	p.S191F	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	611										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AGCCAGTCTAGACTGATAAGA	0.383000														70			5		0	0	0.00116845	0	0
ING5	84289	broad.mit.edu	37	2	242644072	242644072	+	Silent	SNP	C	T	T	rs139118032	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:242644072C>T	uc002wcd.3	+	1	67	c.42C>T	c.(40-42)atC>atT	p.I14I	ING5_uc021vzk.1_Silent_p.I14I	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	14					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTTCAGGTATCGAGAACCTTC	0.468000														138			8		0	0	0.000442599	0	0
CTSF	8722	broad.mit.edu	37	11	66334760	66334760	+	Silent	SNP	C	T	T	rs140630766		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:66334760C>T	uc001oip.3	-	3	654	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	188					proteolysis	lysosome	cysteine-type endopeptidase activity	p.K188N(2)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGACAAAGTTCTTGAAGATTG	0.498000														114			11		0	0	0.00136819	0	0
ADRA1A	148	broad.mit.edu	37	8	26722292	26722292	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:26722292G>A	uc003xfc.1	-	0	631	c.195C>T	c.(193-195)atC>atT	p.I65I	ADRA1A_uc010lul.1_Silent_p.I65I|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Silent_p.I65I|ADRA1A_uc010lum.1_Silent_p.I65I|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Silent_p.I65I|ADRA1A_uc003xfh.1_Silent_p.I65I|ADRA1A_uc022atd.1_Silent_p.I65I	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	65					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCAGGTTGACGATGTAGTAGT	0.602000														120			10		0	0	0.000442599	0	0
ANK3	288	broad.mit.edu	37	10	61829367	61829367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:61829367C>T	uc001jky.3	-	36	11610	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3758					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTATAGTTTCATTTTCTAAT	0.378000														127			15		0	0	0.000566183	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279985	39279985	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:39279985G>A	uc002hwa.3	-	0	435	c.390C>T	c.(388-390)tgC>tgT	p.C130C		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	130	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1).			keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagactggcagcactggggtc	0.677000														43			8		0	0	0.000442599	0	0
SLC2A7	155184	broad.mit.edu	37	1	9078381	9078381	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:9078381G>A	uc009vmo.1	-	4	490	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	164						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATGCCTCTCAGGTTCTTGGGG	0.577000														43			7		0	0	8.12818e-05	0	0
RPH3A	22895	broad.mit.edu	37	12	113319643	113319643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:113319643G>A	uc010syl.2	+	14	1680	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RPH3A_uc001ttz.3_Missense_Mutation_p.A440T|RPH3A_uc001tty.3_Missense_Mutation_p.A436T|RPH3A_uc009zwe.1_Missense_Mutation_p.A436T|RPH3A_uc010sym.2_Missense_Mutation_p.A391T|RPH3A_uc001tua.3_Missense_Mutation_p.A200T	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	440	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCTGCCGGGAGCCAGCAAGGT	0.582000														40			8		0	0	0.000673444	0	0
ADAM28	10863	broad.mit.edu	37	8	24167450	24167450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:24167450G>A	uc003xdy.3	+	2	277	c.194G>A	c.(193-195)gGa>gAa	p.G65E	ADAM28_uc003xdx.3_Missense_Mutation_p.G65E|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	65					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G65E(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACAATTAATGGAAAAATTGCA	0.294000														74			9		0	0	0.000442599	0	0
C8orf31	286122	broad.mit.edu	37	8	144130625	144130625	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:144130625G>A	uc003yxp.1	+	5	708	c.356_splice	c.e5-1	p.G119_splice	C8orf31_uc003yxq.1_Splice_Site|C8orf31_uc003yxr.1_Splice_Site	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	119										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					tgtcattgcaggattctctcg	0.522000														40			12		0	0	0.00185496	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337902	13337902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:13337902C>T	uc010ned.3	-	0	617	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	51	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGTGACTCCTCCTTCTGCCAT	0.418000														65			28		0	0	0.000491102	0	0
RELN	5649	broad.mit.edu	37	7	103179742	103179742	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:103179742C>T	uc022ajr.1	-	44	7123	c.6963G>A	c.(6961-6963)acG>acA	p.T2321T	RELN_uc022ajq.1_Silent_p.T2321T|RELN_uc010liz.3_Silent_p.T2321T	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.T2321T(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCCAAGACCGTATTACCAG	0.398000														35			5		0	0	0.000602214	0	0
ASPH	444	broad.mit.edu	37	8	62430127	62430127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:62430127G>A	uc003xuj.3	-	23	2355	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	ASPH_uc011leg.2_Missense_Mutation_p.P667S	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	696					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCTTCCTTGGGAATCACCAAG	0.527000														68			10		0	0	0.00136819	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559502	129559502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:129559502C>T	uc009zyl.1	-	8	2546	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	TMEM132D_uc001uia.2_Missense_Mutation_p.E278K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	740						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTACCTTCTCATCCAAAGAT	0.498000														60			10		0	0	0.000442599	0	0
PLCE1	51196	broad.mit.edu	37	10	96030337	96030337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96030337G>A	uc001kjk.3	+	17	5118	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R1479Q|PLCE1_uc001kjm.3_Missense_Mutation_p.R1187Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1495	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.R1495Q(4)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.418000														90			10		0	0	0.000978159	0	0
GRID2	2895	broad.mit.edu	37	4	94690479	94690479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:94690479G>A	uc011cdt.2	+	14	2737	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	GRID2_uc011cdu.2_Missense_Mutation_p.D732N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	827					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGCGCCCTGGACATAAAGAG	0.517000														53			12		0	0	0.000308642	0	0
BACE2	25825	broad.mit.edu	37	21	42615318	42615318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:42615318G>A	uc002yyw.3	+	4	1226	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	BACE2_uc002yyx.3_Missense_Mutation_p.E255K|BACE2_uc002yyy.3_Missense_Mutation_p.E255K|BACE2_uc010goo.3_5'Flank	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	255					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGGTGGAATTGAACCAAGTTT	0.388000														79			14		0	0	0.00074312	0	0
KIAA0430	9665	broad.mit.edu	37	16	15698200	15698200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:15698200C>T	uc002ddr.3	-	21	4445	c.4238G>A	c.(4237-4239)cGa>cAa	p.R1413Q	KIAA0430_uc002ddq.3_Missense_Mutation_p.R1247Q|KIAA0430_uc010uzv.2_Missense_Mutation_p.R1410Q|KIAA0430_uc010uzw.2_Missense_Mutation_p.R1413Q	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1412						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTGAGAGATCGCAGAGACTT	0.468000														86			14		0	0	0.000566183	0	0
RNF17	56163	broad.mit.edu	37	13	25399799	25399799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25399799G>A	uc001upr.3	+	15	2175	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	RNF17_uc010tdd.1_Missense_Mutation_p.E571K|RNF17_uc010tde.2_Missense_Mutation_p.E712K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E651K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	712					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GACAATCGAGGAATTCTATAA	0.353000														87			21		0	0	0.00152264	0	0
TP53	7157	broad.mit.edu	37	17	7578478	7578479	+	Missense_Mutation	DNP	GG	AA	AA	rs28934874		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7578478_7578479GG>AA	uc002gim.2	-	4	645_646	c.451_452CC>TT	c.(451-453)ccc>TTc	p.P151F	TP53_uc002gig.1_Missense_Mutation_p.P151F|TP53_uc002gih.3_Missense_Mutation_p.P151F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P19F|TP53_uc010cnf.1_Missense_Mutation_p.P19F|TP53_uc002gii.1_Missense_Mutation_p.P19F|TP53_uc010cni.1_Missense_Mutation_p.P151F|TP53_uc010cnh.1_Missense_Mutation_p.P151F|TP53_uc002gij.2_Missense_Mutation_p.P151F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P58F|TP53_uc002gio.2_Missense_Mutation_p.P19F|TP53_uc010vug.2_Missense_Mutation_p.P112F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(134)|p.P151H(58)|p.P151T(30)|p.P151A(22)|p.P151R(16)|p.P151L(14)|p.P151fs*30(13)|p.P151P(12)|p.T150fs*16(10)|p.P152fs*18(9)|p.0?(8)|p.?(5)|p.T150I(4)|p.P151_V173del23(2)|p.P19A(2)|p.P151del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P58H(2)|p.P58A(2)|p.P58S(2)|p.Q144_G154del11(2)|p.P19S(2)|p.P19H(2)|p.T150_P151delTP(2)|p.P152_P153del(1)|p.T150R(1)|p.P152fs*28(1)|p.T150fs*31(1)|p.T150fs*23(1)|p.T150K(1)|p.T57fs*16(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.P58R(1)|p.P19R(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCCGGGCGGGGGTGTGGAATCA	0.609000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)				26			5		0	0	6.4e-05	0	0
OR8J1	219477	broad.mit.edu	37	11	56128078	56128078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56128078C>T	uc010rjh.2	+	0	388	c.356C>T	c.(355-357)gCc>gTc	p.A119V		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119V(2)|p.M118I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCTTTGATGGCCTATGACCGC	0.488000														68			6		0	0	0.00116845	0	0
OR4A15	81328	broad.mit.edu	37	11	55135834	55135834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:55135834C>T	uc010rif.2	+	0	475	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H159R(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAAGCCTCTTCATGAATTGAT	0.413000														91			10		0	0	0.000673444	0	0
AADACL3	126767	broad.mit.edu	37	1	12785399	12785399	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12785399G>A	uc009vnn.1	+	3	722	c.489G>A	c.(487-489)ctG>ctA	p.L163L	AADACL3_uc001aug.1_Silent_p.L93L	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	163							hydrolase activity	p.L163L(1)|p.L93L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGATCCTGATCTATGCCA	0.512000														103			43		0	0	0.000589545	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552239	228552239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228552239C>T	uc002vpi.3	-	5	1454	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.M451I	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	455					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACATGCTTCTCATTAGGAAAA	0.383000														77			6		0	0	0.000157383	0	0
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:29965177C>T	uc002wvt.3	-	1	247	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_uc002wvs.3_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	43					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433000														117			20		0	0	0.000720815	0	0
OR6C70	390327	broad.mit.edu	37	12	55863179	55863179	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:55863179G>A	uc010spn.2	-	0	744	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TACCATAAGTGATGGAGACAA	0.398000														75			13		0	0	0.000308642	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126554	37126554	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:37126554C>T	uc003zzq.3	+	1	398	c.225C>T	c.(223-225)atC>atT	p.I75I	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Silent_p.I75I|ZCCHC7_uc010mlt.3_Silent_p.I74I|ZCCHC7_uc003zzs.1_Silent_p.I74I	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	75							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGAAGCTAATCGTCCTTTCAG	0.408000														137			13		0	0	0.000219431	0	0
MYO18B	84700	broad.mit.edu	37	22	26422449	26422449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26422449C>T	uc003abz.1	+	42	6759	c.6509C>T	c.(6508-6510)tCg>tTg	p.S2170L	MYO18B_uc003aca.1_Missense_Mutation_p.S2051L|MYO18B_uc010guy.1_Missense_Mutation_p.S2052L|MYO18B_uc010guz.1_Missense_Mutation_p.S2050L|MYO18B_uc011aka.1_Missense_Mutation_p.S1324L|MYO18B_uc011akb.1_Missense_Mutation_p.S1683L|MYO18B_uc010gva.1_Missense_Mutation_p.S153L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2170						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGACCCAGTCGGCATTGGCA	0.507000														157			28		0	0	0.00127121	0	0
CNR1	1268	broad.mit.edu	37	6	88854696	88854696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:88854696C>T	uc010kbz.3	-	1	428	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CNR1_uc011dzr.2_Missense_Mutation_p.E100K|CNR1_uc011dzs.2_Missense_Mutation_p.E100K|CNR1_uc003pmq.4_Missense_Mutation_p.E100K|CNR1_uc011dzt.2_Missense_Mutation_p.E100K|CNR1_uc010kca.3_Missense_Mutation_p.E67K|CNR1_uc021zco.1_Missense_Mutation_p.E100K	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	100					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.G99R(1)|p.G99A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGAAGTTCTCCCCACACTGG	0.532000														40			11		0	0	0.000978159	0	0
DPYD	1806	broad.mit.edu	37	1	97771799	97771799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:97771799G>A	uc001drv.3	-	16	2250	c.2113C>T	c.(2113-2115)Cct>Tct	p.P705S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	705					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.I704M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCAAAAAAAGGAATCTGAACA	0.433000														41			10		0	0	0.000673444	0	0
MYOF	26509	broad.mit.edu	37	10	95069910	95069910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:95069910G>A	uc001kin.3	-	52	6137	c.6014C>T	c.(6013-6015)tCc>tTc	p.S2005F	MYOF_uc001kio.3_Missense_Mutation_p.S1992F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	2005					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAGAGGAAGGAGGTTTCTGG	0.473000														76			5		0	0	0.000602214	0	0
LRRC1	55227	broad.mit.edu	37	6	53767498	53767498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:53767498G>A	uc003pcd.1	+	8	1380	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	287						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGCAGTTGGGGAATGTGAAAG	0.363000														122			26		0	0	0.00127121	0	0
MUC16	94025	broad.mit.edu	37	19	9067716	9067716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9067716G>A	uc002mkp.3	-	2	19934	c.19730C>T	c.(19729-19731)tCa>tTa	p.S6577L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6579	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGTCTTCTGAAGTAGTCGG	0.458000														69			8		0	0	0.000274275	0	0
DPP10	57628	broad.mit.edu	37	2	116283505	116283505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:116283505C>T	uc002tle.3	+	4	431	c.410C>T	c.(409-411)tCa>tTa	p.S137L	DPP10_uc002tla.2_Missense_Mutation_p.S133L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.S83L|DPP10_uc002tlc.2_Missense_Mutation_p.S129L|DPP10_uc002tlf.2_Missense_Mutation_p.S126L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	133					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATTCAGTTTCACCAGATTTA	0.308000														35			7		0	0	0.000673444	0	0
PCDH1	5097	broad.mit.edu	37	5	141243202	141243202	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:141243202G>A	uc003llp.3	-	2	2811	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	PCDH1_uc011dbf.2_Silent_p.A876A|PCDH1_uc003llq.3_Silent_p.A898A	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	898					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGGCTTGGGGGCATACAGGT	0.587000														76			6		0	0	8.12818e-05	0	0
DCTN1	1639	broad.mit.edu	37	2	74605312	74605312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74605312G>A	uc002skx.3	-	1	412	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	DCTN1_uc002skw.2_Missense_Mutation_p.R32C|DCTN1_uc010ffd.3_Missense_Mutation_p.R32C|DCTN1_uc002sky.3_Missense_Mutation_p.R15C	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	32					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTCTACACGGGAGCCCACC	0.592000														54			12		0	0	0.000219431	0	0
F8	2157	broad.mit.edu	37	X	154158605	154158605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:154158605C>T	uc004fmt.3	-	13	3631	c.3460G>A	c.(3460-3462)Gaa>Aaa	p.E1154K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1154	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1154G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAGATTTTTCTGGTCCTAAG	0.428000														48			6		0	0	8.12818e-05	0	0
DMBX1	127343	broad.mit.edu	37	1	46977718	46977718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:46977718C>T	uc001cpx.3	+	3	716	c.701C>T	c.(700-702)tCc>tTc	p.S234F	DMBX1_uc001cpw.3_Missense_Mutation_p.S229F	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	234					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTTGCAGATTCCCCAGGCAGC	0.612000														104			14		0	0	0.000958276	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558898	140558898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140558898G>A	uc011dai.2	+	0	1528	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	428	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGACTTAGGGACACCCAGG	0.517000														328			9		0	0	0.000274275	0	0
SPDYC	387778	broad.mit.edu	37	11	64938905	64938905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64938905G>A	uc010rnz.2	+	1	134	c.134G>A	c.(133-135)gGt>gAt	p.G45D		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	45					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGCCGGCAAGGTGGGGGCAAT	0.627000														13			5		0	0	0.00116845	0	0
TCRA	0	broad.mit.edu	37	14	22539252	22539252	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:22539252A>T	uc001wcy.3	+	1	159	c.148A>T	c.(148-150)Aat>Tat	p.N50Y	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		GGAGGGAGCCAATTCCACGCT	0.478000														34			6		0	0	0.000157383	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913436	54913436	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:54913436C>T	uc003dhf.3	+	19	1890	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	CACNA2D3_uc011beu.1_Intron|CACNA2D3_uc003dhg.1_Silent_p.F520F|CACNA2D3_uc003dhh.1_Intron|CACNA2D3_uc010hmv.1_Silent_p.F348F|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	614						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P613L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTACTCCTTTCAGGTAGAGCT	0.378000														30			8		0	0	0.000442599	0	0
CNTN1	1272	broad.mit.edu	37	12	41386974	41386974	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:41386974C>T	uc001rmm.1	+	16	2129	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	CNTN1_uc001rmn.1_Silent_p.I661I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	672	Fibronectin type-III 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGACTTAATCCCATGGATGG	0.403000														70			14		0	0	0.000308642	0	0
PCDH20	64881	broad.mit.edu	37	13	61986195	61986195	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:61986195C>T	uc001vid.4	-	1	2401	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	PCDH20_uc010thj.2_Silent_p.V679V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	652	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CACTCTGGTTCACCACAGAGA	0.453000														64			11		0	0	0.000978159	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814709	8814709	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:8814709C>T	uc002glt.3	-	2	170	c.103_splice	c.e2+1	p.A35_splice	PIK3R5_uc010vuz.2_Splice_Site_p.A35_splice|PIK3R5_uc021tqc.1_Splice_Site|PIK3R5_uc010cob.2_Intron|PIK3R5_uc010coa.2_Splice_Site|PIK3R5_uc002glu.4_Splice_Site	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	35	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTGGACCGACCTGACCAGGAG	0.652000														43			14		0	0	0.000958276	0	0
TG	7038	broad.mit.edu	37	8	134125787	134125787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:134125787C>T	uc003ytw.3	+	43	7735	c.7694C>T	c.(7693-7695)tCt>tTt	p.S2565F	TG_uc010mdw.3_Missense_Mutation_p.S1324F|TG_uc011ljb.2_Missense_Mutation_p.S934F|TG_uc011ljc.2_Missense_Mutation_p.S698F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2565					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGTATTACTCTCTGGAGCAC	0.562000														25			14		0	0	0.000566183	0	0
EPO	2056	broad.mit.edu	37	7	100320696	100320696	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100320696T>A	uc003uwi.3	+	4	703	c.522T>A	c.(520-522)aaT>aaA	p.N174K	EPO_uc011kkc.1_Missense_Mutation_p.N173K	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	174					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	p.S173S(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCTACTCCAATTTCCTCCGGG	0.582000														104			10		0	0	0.000673444	0	0
KLHL1	57626	broad.mit.edu	37	13	70456507	70456507	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:70456507A>T	uc001vip.3	-	4	1929	c.1135T>A	c.(1135-1137)Ttg>Atg	p.L379M	KLHL1_uc010thm.2_Missense_Mutation_p.L318M	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	379					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CACATCATCAATGCATGGAAG	0.438000														59			13		0	0	0.00136819	0	0
GIT1	28964	broad.mit.edu	37	17	27909958	27909958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:27909958G>A	uc002heg.2	-	2	498	c.284C>T	c.(283-285)cCc>cTc	p.P95L	GIT1_uc002hef.2_Missense_Mutation_p.P95L|GIT1_uc010wbg.1_Missense_Mutation_p.P95L	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	95	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTTGTCTTGGGGGTTGGCTTT	0.662000														28			4		0	0	0.000602214	0	0
PTPRK	5796	broad.mit.edu	37	6	128718786	128718786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:128718786C>T	uc003qbk.3	-	1	515	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PTPRK_uc010kfc.3_Missense_Mutation_p.D50N|PTPRK_uc003qbj.3_Missense_Mutation_p.D50N|PTPRK_uc011ebu.2_Missense_Mutation_p.D50N|PTPRK_uc003qbl.1_Silent_p.R10R|PTPRK_uc011ebv.1_Missense_Mutation_p.D50N|PTPRK_uc003qbm.4_5'UTR	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	50	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCATACAGATCCTGGTGGTAA	0.443000														131			6		0	0	0.000157383	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943090	12943090	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12943090G>A	uc001aun.2	-	1	197	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	42										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCTCCATGAACAGTGGGG	0.612000														84			16		0	0	0.000958276	0	0
DPY19L4	286148	broad.mit.edu	37	8	95773980	95773981	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:95773980_95773981GG>TT	uc003ygx.2	+	7	912_913	c.788_789GG>TT	c.(787-789)tgg>tTT	p.W263F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	263						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATGATGATGTGGGAGTATAGCC	0.342000														542			13		0	0	6.4e-05	0	0
TRPC6	7225	broad.mit.edu	37	11	101344298	101344298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:101344298C>T	uc001pgk.4	-	6	2376	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	TRPC6_uc009ywy.3_Missense_Mutation_p.G535R|TRPC6_uc009ywz.1_Missense_Mutation_p.G596R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	651					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGAACATTCCAATCATAAAG	0.358000														31			8		0	0	0.000274275	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:66992626C>T	uc003xvs.1	+	4	639	c.348C>T	c.(346-348)atC>atT	p.I116I	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	116					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.I116I(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557000														38			15		0	0	0.000566183	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516941	158516941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158516941C>T	uc010pil.2	-	0	955	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCCCATTTCCCTGGGGCCCA	0.453000														30			8		0	0	0.000274275	0	0
LRGUK	136332	broad.mit.edu	37	7	133884016	133884016	+	Silent	SNP	C	T	T	rs61749958		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:133884016C>T	uc003vrm.1	+	13	1606	c.1590C>T	c.(1588-1590)atC>atT	p.I530I		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	530	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTCGTTATATCCTGGTGGTGC	0.368000														115			26		0	0	0.00127121	0	0
KDELC1	79070	broad.mit.edu	37	13	103445760	103445760	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:103445760G>A	uc001vpq.4	-	3	987	c.603C>T	c.(601-603)atC>atT	p.I201I	KDELC1_uc001vpr.4_5'UTR	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	201						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATGAGTCTTGATATAAACCT	0.343000														167			35		0	0	0.000953801	0	0
GFRAL	389400	broad.mit.edu	37	6	55223767	55223767	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55223767C>T	uc003pcm.1	+	5	869	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	261						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATTAGCACCTTAAGCAAAC	0.438000														26			5		0	0	8.12818e-05	0	0
CCDC19	25790	broad.mit.edu	37	1	159847181	159847181	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159847181C>T	uc001fui.3	-	8	1134	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.L287L|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.L358L	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	372						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCATGGCCCTCAAGCGTGCGA	0.547000														148			27		0	0	0.00178596	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221191	118221192	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:118221191_118221192GG>AA	uc004era.4	-	10	4001_4002	c.4001_4002CC>TT	c.(4000-4002)tcc>tTT	p.S1334F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1334										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGAGGCTTGGGAAGAATGTTT	0.475000														102			49		0	0	6.4e-05	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:93017381C>T	uc022axs.1	-	5	1067	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D208N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D208N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D235N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D235N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D208N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D246N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D215N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D235N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D198N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	235	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000														74			21		0	0	0.00047179	0	0
SNTG2	54221	broad.mit.edu	37	2	1263176	1263176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1263176C>T	uc002qwq.3	+	12	1169	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	SNTG2_uc010ewi.3_Missense_Mutation_p.T220I	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	347	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.T347T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCAGAAAGGACCTATCACCTC	0.398000														94			6		0	0	8.12818e-05	0	0
MYO7A	4647	broad.mit.edu	37	11	76922935	76922935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:76922935C>T	uc001oyb.2	+	45	6579	c.6307C>T	c.(6307-6309)Ctc>Ttc	p.L2103F	MYO7A_uc001oyc.2_Missense_Mutation_p.L2065F|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2103	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTCCTGAAGCTCATCTTCAA	0.577000														32			7		0	0	0.000274275	0	0
FGD1	2245	broad.mit.edu	37	X	54497077	54497077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:54497077G>A	uc004dtg.3	-	2	1332	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	200	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTGCCCTGGGAGCCAGGCCC	0.652000														10			4		0	0	0.000602214	0	0
MYO5B	4645	broad.mit.edu	37	18	47421394	47421394	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:47421394G>A	uc002leb.2	-	21	3250	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L	MYO5B_uc002lea.2_Silent_p.L129L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	988					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTGTGCGCAGGCTCTCCACC	0.612000														41			8		0	0	0.000274275	0	0
ZNF664	144348	broad.mit.edu	37	12	124497312	124497312	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:124497312C>T	uc001ugb.3	+	4	1650	c.621C>T	c.(619-621)gcC>gcT	p.A207A	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Silent_p.A207A|ZNF664_uc021rfz.1_Silent_p.A207A	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTGGGAAGGCCTTCAGTCAGA	0.517000														48			11		0	0	0.000978159	0	0
APOB	338	broad.mit.edu	37	2	21224852	21224852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21224852G>A	uc002red.3	-	28	13570	c.13442C>T	c.(13441-13443)gCc>gTc	p.A4481V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4481			A -> T (in dbSNP:rs1801695).		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)	CGTCGCAATGGCCTGGCTTTT	0.368000														323			79		0	0	0.000781405	0	0
MX1	4599	broad.mit.edu	37	21	42815719	42815719	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:42815719C>T	uc010goq.3	+	8	1280	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	MX1_uc002yzh.3_Silent_p.L312L|MX1_uc002yzi.3_Silent_p.L312L	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	312					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTCTAGGGATCTGCTGGAGGA	0.507000														171			12		0	0	0.000308642	0	0
TGM3	7053	broad.mit.edu	37	20	2308852	2308852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2308852G>A	uc002wfx.4	+	8	1271	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	392					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TATCTTCGCGGAGGTTAATGC	0.552000														43			15		0	0	0.000308642	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218273	57218273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:57218273G>A	uc010lyk.1	-	5	1357	c.719C>T	c.(718-720)tCt>tTt	p.S240F	SDR16C5_uc003xsy.1_Missense_Mutation_p.S240F|SDR16C5_uc010lyl.1_Missense_Mutation_p.S196F	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	240					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TGGCAACAGAGAAGGACAGCT	0.289000														104			10		0	0	0.000442599	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997054	82997054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82997054C>T	uc003uhy.2	-	16	2797	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	SEMA3E_uc022agy.1_Missense_Mutation_p.E666K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	726					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CAGTATTCTTCCACTCTCTGG	0.463000														85			25		0	0	0.000720815	0	0
SLMO2	51012	broad.mit.edu	37	20	57610109	57610109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57610109C>T	uc002yam.3	-	5	654	c.538G>A	c.(538-540)Gga>Aga	p.G180R	ATP5E_uc002yal.3_5'Flank|SLMO2_uc021wfq.1_Non-coding_Transcript|SLMO2_uc021wfr.1_Non-coding_Transcript|SLMO2_uc010zzv.2_Missense_Mutation_p.G150R	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	Homo sapiens slowmo homolog 2 (Drosophila) (SLMO2), transcript variant 1, mRNA.	180										endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTTATGGTTCCTCTTGCTGAG	0.428000														32			8		0	0	0.000157383	0	0
CASP5	838	broad.mit.edu	37	11	104871083	104871083	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:104871083A>C	uc010ruz.1	-	5	928	c.896T>G	c.(895-897)cTg>cGg	p.L299R	CASP5_uc010rva.1_Missense_Mutation_p.L286R|CASP5_uc010rvb.1_Missense_Mutation_p.L228R|CASP5_uc010rvc.1_Missense_Mutation_p.L144R|CASP5_uc009yxh.2_Missense_Mutation_p.L68R|CASP5_uc010rvd.1_Missense_Mutation_p.L68R	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	286					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTCATAAAGCAGCACATCCGG	0.488000														99			23		0	0	0.00188189	0	0
UBA2	10054	broad.mit.edu	37	19	34929648	34929648	+	Silent	SNP	C	T	T	rs150396555	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:34929648C>T	uc002nvk.3	+	5	628	c.558C>T	c.(556-558)atC>atT	p.I186I	UBA2_uc010xrx.1_Silent_p.I59I|UBA2_uc002nvl.3_Silent_p.I90I	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	186					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TACATTGCATCGTTTGGGCAA	0.408000														110			9		0	0	0.000673444	0	0
KIAA1217	56243	broad.mit.edu	37	10	24816930	24816930	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:24816930G>A	uc001iru.4	+	13	3367	c.2964G>A	c.(2962-2964)gaG>gaA	p.E988E	KIAA1217_uc001irs.3_Silent_p.E908E|KIAA1217_uc001irt.4_Silent_p.E953E|KIAA1217_uc010qcy.2_Silent_p.E953E|KIAA1217_uc010qcz.2_Silent_p.E953E|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.E671E|KIAA1217_uc001irz.3_Silent_p.E671E|KIAA1217_uc001irx.3_Silent_p.E671E|KIAA1217_uc001iry.3_Silent_p.E671E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	988					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAGTTTGAGAAGCTCCTAG	0.473000														97			19		0	0	0.000586117	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612634	121612634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:121612634G>A	uc003vjy.3	+	3	739	c.344G>A	c.(343-345)gGa>gAa	p.G115E	PTPRZ1_uc011knt.2_Missense_Mutation_p.G115E|PTPRZ1_uc003vjz.3_Missense_Mutation_p.G115E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	115	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTCAGCGGAGGAGTTTCAGAA	0.333000														74			14		0	0	0.000219431	0	0
CDH7	1005	broad.mit.edu	37	18	63548017	63548017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:63548017G>A	uc002lkb.3	+	11	2671	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	CDH7_uc002ljz.3_Missense_Mutation_p.D749N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D749N(3)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGCTCTTTAGATTCCATCAG	0.473000														53			11		0	0	0.00185496	0	0
BSN	8927	broad.mit.edu	37	3	49680225	49680225	+	Silent	SNP	C	T	T	rs71324983	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:49680225C>T	uc003cxe.4	+	2	1272	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	386					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCTAAGATCGTCTTCAATG	0.642000														38			6		0	0	8.12818e-05	0	0
GGCX	2677	broad.mit.edu	37	2	85779675	85779675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:85779675G>A	uc002sps.3	-	9	1409	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	GGCX_uc010yss.2_Missense_Mutation_p.R274W|GGCX_uc010yst.2_Missense_Mutation_p.R378W	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	435					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TTCCATCGCCGACTCTGTGTA	0.493000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			26		0	0	0.00127121	0	0
SREK1	140890	broad.mit.edu	37	5	65459653	65459653	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:65459653C>T	uc003jun.3	+	5	909	c.789C>T	c.(787-789)ccC>ccT	p.P263P	SREK1_uc010iwy.3_Silent_p.P147P|SREK1_uc003juo.3_Silent_p.P147P	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	147	Arg/Glu/Lys/Ser-rich.				RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TAGTAAAACCCCCTGAGATGA	0.353000														46			6		0	0	0.00116845	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526915	35526915	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:35526915C>T	uc002xgh.2	-	13	1736	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	SAMHD1_uc010gft.2_Intron	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	512					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAATTGGATTCTTTTCTTGCA	0.368000														116			17		0	0	0.00152264	0	0
LOC100132247	0	broad.mit.edu	37	16	21854863	21854863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:21854863G>A	uc002djr.3	-	5	571	c.389C>T	c.(388-390)tCt>tTt	p.S130F	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.S111F|LOC100132247_uc010vbn.1_Missense_Mutation_p.S130F	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCGAAAGGAAGAAACTCTTTT	0.433000														285			17		0	0	0.000958276	0	0
ADH1A	124	broad.mit.edu	37	4	100208132	100208132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:100208132C>T	uc003hur.2	-	2	248	c.134G>A	c.(133-135)gGa>gAa	p.G45E	LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.G45E	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	45					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCCACAGATTCCTACAGCCAC	0.468000														63			13		0	0	0.00185496	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	A	A	rs113296018	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:122338165G>A	uc003vkj.1	-	0	1044	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.V269I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000														51			9		0	0	0.000978159	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489176	150489176	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150489176G>A	uc022apx.1	-	4	814	c.688C>T	c.(688-690)Cga>Tga	p.R230*	TMEM176B_uc003whu.4_Nonsense_Mutation_p.R230*|TMEM176B_uc003whv.4_Nonsense_Mutation_p.R193*|TMEM176B_uc003whw.4_Nonsense_Mutation_p.R230*	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	230					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.R230Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAAGTTTCGAAGACCTACT	0.572000														26			8		0	0	0.000274275	0	0
KAT8	84148	broad.mit.edu	37	16	31141467	31141467	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:31141467T>C	uc002eay.3	+	6	919	c.901T>C	c.(901-903)Tac>Cac	p.Y301H	KAT8_uc002eax.3_Missense_Mutation_p.Y301H|KAT8_uc002eaz.3_Missense_Mutation_p.Y143H|KAT8_uc002eba.3_Missense_Mutation_p.Y85H	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	301					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CATTGTTGGCTACTTCTCCAA	0.602000														146			30		0	0	0.000692331	0	0
CASP5	838	broad.mit.edu	37	11	104874097	104874097	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:104874097G>A	uc010ruz.1	-	3	518	c.486C>T	c.(484-486)atC>atT	p.I162I	CASP5_uc010rva.1_Silent_p.I149I|CASP5_uc010rvb.1_Silent_p.I91I|CASP5_uc010rvc.1_Silent_p.I7I|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	149					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.K161Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTCCAGCCTCGATTTGCAGAA	0.403000														65			15		0	0	0.000308642	0	0
CD19	930	broad.mit.edu	37	16	28943738	28943738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:28943738C>T	uc010byo.2	+	1	222	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.R54W	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	54	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GACCTGGTCTCGGGAGTCCCC	0.592000														20			6		0	0	0.000157383	0	0
TMLHE	55217	broad.mit.edu	37	X	154774867	154774867	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:154774867G>T	uc004fnn.3	-	1	242	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	TMLHE_uc004fnp.4_Missense_Mutation_p.P24Q	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	Homo sapiens trimethyllysine hydroxylase, epsilon (TMLHE), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	24					carnitine biosynthetic process	mitochondrial matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGGAAGGGCCGGATATATGAC	0.473000														24			19		3.99206e-14	2.08218e-13	0.000958276	1	0
BDNF	627	broad.mit.edu	37	11	27679529	27679529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:27679529C>T	uc001mrv.3	-	1	941	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	BDNF-AS_uc009yip.3_Intron|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Intron|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Intron|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Intron|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Intron|BDNF-AS_uc009yim.3_Intron|BDNF-AS_uc009yir.3_Intron|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Intron|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Intron|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Intron|BDNF-AS_uc009yiz.3_Intron|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Intron|BDNF_uc021qff.1_Missense_Mutation_p.G195S|BDNF_uc010rdu.2_Missense_Mutation_p.G195S|BDNF_uc001mrt.3_Missense_Mutation_p.G210S|BDNF_uc010rdw.2_Missense_Mutation_p.G195S|BDNF_uc009yjd.3_Missense_Mutation_p.G195S|BDNF_uc001mru.3_Missense_Mutation_p.G195S|BDNF_uc010rdx.2_Missense_Mutation_p.G195S|BDNF_uc009yjf.3_Missense_Mutation_p.G224S|BDNF_uc010rdy.2_Missense_Mutation_p.G195S|BDNF_uc009yjg.3_Missense_Mutation_p.G195S|BDNF_uc009yje.3_Missense_Mutation_p.G277S|BDNF_uc001mrw.4_Missense_Mutation_p.G195S|BDNF_uc001mry.4_Missense_Mutation_p.G195S|BDNF_uc001mrz.4_Missense_Mutation_p.G195S|BDNF_uc001mrx.3_Missense_Mutation_p.G195S|BDNF_uc001msa.3_Missense_Mutation_p.G203S	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	195						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CCCCTGCAGCCTTCTTTTGTG	0.507000														128			12		0	0	0.00136819	0	0
GPR83	10888	broad.mit.edu	37	11	94113452	94113452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:94113452G>A	uc001pet.2	-	3	1307	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	379						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGAAGGAAGGAACTGGGGAG	0.562000														51			11		0	0	0.00136819	0	0
INSIG2	51141	broad.mit.edu	37	2	118864701	118864701	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:118864701G>T	uc002tlk.3	+	4	778	c.572G>T	c.(571-573)tGg>tTg	p.W191L	INSIG2_uc010yye.2_Missense_Mutation_p.W83L|INSIG2_uc002tll.3_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	Homo sapiens insulin induced gene 2 (INSIG2), mRNA.	191					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTTCGTTCTTGGTTACCATGT	0.373000														69			6		0.00116845	0.00599602	0.00116845	1	0
SLC4A3	6508	broad.mit.edu	37	2	220500098	220500098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220500098G>A	uc002vmo.4	+	12	2142	c.1933G>A	c.(1933-1935)Ggc>Agc	p.G645S	SLC4A3_uc002vmp.4_Missense_Mutation_p.G618S|SLC4A3_uc010fwm.3_Missense_Mutation_p.G168S|SLC4A3_uc010fwn.1_Missense_Mutation_p.G127S	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	618					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGGTGGAGGGCCGTGACCT	0.617000														38			7		0	0	0.000274275	0	0
SALL4	57167	broad.mit.edu	37	20	50407914	50407914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:50407914C>T	uc002xwh.4	-	1	1209	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	SALL4_uc010gii.3_Missense_Mutation_p.D370N|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	370					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V369V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTTTGACATCCACCGCGGAG	0.567000														65			7		0	0	0.000442599	0	0
ABCA12	26154	broad.mit.edu	37	2	215839503	215839503	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:215839503G>A	uc002vew.3	-	35	5688	c.5468_splice	c.e35+1	p.L1823_splice	ABCA12_uc002vev.3_Splice_Site_p.L1505_splice|ABCA12_uc010zjn.2_Splice_Site_p.L750_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1823					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCACTTACAGATCACTGGTG	0.433000														93			13		0	0	0.000422831	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373975	86373975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:86373975C>T	uc010sum.2	-	5	760	c.601G>A	c.(601-603)Gag>Aag	p.E201K	MGAT4C_uc001tal.4_Missense_Mutation_p.E177K|MGAT4C_uc001taj.4_Missense_Mutation_p.E177K|MGAT4C_uc001tak.4_Missense_Mutation_p.E177K|MGAT4C_uc001tai.4_Missense_Mutation_p.E177K|MGAT4C_uc001tah.4_Missense_Mutation_p.E177K	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	177					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGGTAATACTCCTCTGGAGCA	0.378000														59			16		0	0	0.000958276	0	0
FREM1	158326	broad.mit.edu	37	9	14851493	14851493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:14851493G>A	uc003zlm.3	-	6	1757	c.941C>T	c.(940-942)tCc>tTc	p.S314F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	314					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTAGTCAAGGAGGTCAGGAT	0.483000														74			16		0	0	0.00074312	0	0
CCDC33	80125	broad.mit.edu	37	15	74588161	74588161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:74588161G>A	uc002axo.3	+	10	1556	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	CCDC33_uc002axp.3_Missense_Mutation_p.D210N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	591							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAAGATCCTGGATAAGAAGCT	0.507000														62			6		0	0	0.000274275	0	0
C11orf94	143678	broad.mit.edu	37	11	45928420	45928420	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:45928420C>T	uc001nbs.4	-	2	212	c.175_splice	c.e2+1	p.D59_splice		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	59						extracellular region		p.D59Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						GAGATACTACCATCCACCAGG	0.607000														47			9		0	0	0.000442599	0	0
CMYA5	202333	broad.mit.edu	37	5	79031766	79031766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79031766C>T	uc003kgc.3	+	1	7250	c.7178C>T	c.(7177-7179)tCc>tTc	p.S2393F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2393						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGCTTCCTCCAACTTTGCA	0.343000														55			6		0	0	0.000274275	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41689109	41689109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:41689109G>A	uc001znx.3	-	1	547	c.149C>T	c.(148-150)tCc>tTc	p.S50F	NDUFAF1_uc010bcf.3_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	50					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCTCTGTGAGGAGGCTTTGCC	0.443000														123			26		0	0	0.000878237	0	0
LAMA2	3908	broad.mit.edu	37	6	129465092	129465092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129465092C>T	uc021zfb.1	+	4	791	c.686C>T	c.(685-687)tCt>tTt	p.S229F	LAMA2_uc003qbn.3_Missense_Mutation_p.S229F|LAMA2_uc003qbo.3_Missense_Mutation_p.S229F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	229	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S229Y(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGATCCTTCTCCAGAACTG	0.373000														26			6		0	0	0.00116845	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716344	13716344	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13716344G>A	uc001rbt.2	-	12	4007	c.3828C>T	c.(3826-3828)gcC>gcT	p.A1276A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1276					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.N1275N(1)|p.A1276V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGTGGTGGAGGCGTTTGACG	0.582000														63			9		0	0	0.000274275	0	0
EVPL	2125	broad.mit.edu	37	17	74003516	74003516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:74003516C>T	uc010wss.1	-	21	6064	c.5836G>A	c.(5836-5838)Ggc>Agc	p.G1946S	EVPL_uc002jqi.2_Missense_Mutation_p.G1924S|EVPL_uc010wst.1_Missense_Mutation_p.G1394S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1924	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCATCCAGCCCTTCTGGACG	0.667000														27			6		0	0	0.00116845	0	0
OR2T6	254879	broad.mit.edu	37	1	248551607	248551607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248551607G>A	uc001iei.1	+	0	698	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCTGAAGGGAGGAAGAAG	0.512000														61			16		0	0	0.000422831	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059062	152059062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152059062C>T	uc001ezo.1	-	2	1161	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	366							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTTCACATTCTTTTTCTTGG	0.448000														138			41		0	0	0.000589545	0	0
C6orf58	352999	broad.mit.edu	37	6	127911434	127911434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:127911434C>T	uc003qbh.3	+	4	889	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	293						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AGTCCTGGTTCTTCTAAATAT	0.338000														167			9		0	0	0.000219431	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781827	128781827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:128781827G>A	uc001qet.3	+	1	973	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	KCNJ5_uc009zck.3_Missense_Mutation_p.R220Q|KCNJ5_uc001qew.3_Missense_Mutation_p.R220Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	220					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R220W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTCATGTTCCGGGTGGGCGAC	0.587000														45			8		0	0	0.000274275	0	0
AADAC	13	broad.mit.edu	37	3	151545367	151545367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151545367C>T	uc003eze.3	+	4	697	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	203					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.L202V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTCAGCTCCTTGATGACCC	0.328000														51			5		0	0	0.000602214	0	0
HUS1B	135458	broad.mit.edu	37	6	656326	656326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:656326G>A	uc003mtg.3	-	0	639	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	207										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGGTTTCCAAGATTTTTAAAA	0.517000														134			12		0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	8982296	8982296	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8982296G>A	uc002mkp.3	-	69	42183	c.41979C>T	c.(41977-41979)gaC>gaT	p.D13993D	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.D810D|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14018	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGAGGAGGTCCACCCGTG	0.617000														32			7		0	0	0.000442599	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644491	31644491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31644491G>A	uc002wym.1	+	1	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	90	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGGCGTTGTCGAGGAGCTCTC	0.582000														37			5		0	0	0.00116845	0	0
SNAP91	9892	broad.mit.edu	37	6	84371229	84371229	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:84371229C>T	uc021zcf.1	-	3	474	c.444G>A	c.(442-444)gtG>gtA	p.V148V	SNAP91_uc003pka.3_Silent_p.V148V|SNAP91_uc011dze.2_Silent_p.V148V|SNAP91_uc003pkc.3_Silent_p.V148V|SNAP91_uc003pkd.3_Silent_p.V148V|SNAP91_uc003pkb.3_Silent_p.V113V|SNAP91_uc011dzf.1_Silent_p.V29V	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	148					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.R147K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCCTTTCTTCACCCTGGCAA	0.338000														48			5		0	0	0.000602214	0	0
TM9SF4	9777	broad.mit.edu	37	20	30747905	30747905	+	Silent	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:30747905G>T	uc002wxj.2	+	15	1915	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	TM9SF4_uc010zts.1_Silent_p.L467L|TM9SF4_uc002wxk.2_Silent_p.L543L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	560						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACTTCCAGCTGTGTGCAGAGG	0.537000														51			7		1.12685e-05	5.83571e-05	0.000274275	1	0
VPS13A	23230	broad.mit.edu	37	9	79985331	79985331	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:79985331G>A	uc004akr.3	+	65	9004	c.8744_splice	c.e65-1	p.G2915_splice	VPS13A_uc004akp.4_Splice_Site_p.G2915_splice|VPS13A_uc004akq.4_Splice_Site_p.G2915_splice|VPS13A_uc004aks.3_Splice_Site_p.G2876_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2915					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCTGTCAGGTGGATTGGCT	0.428000														41			10		0	0	0.000673444	0	0
TYROBP	7305	broad.mit.edu	37	19	36398351	36398351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36398351C>T	uc002ocm.3	-	2	307	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TYROBP_uc002ocn.3_Missense_Mutation_p.E76K|TYROBP_uc021uta.1_Missense_Mutation_p.E65K|TYROBP_uc021utb.1_Missense_Mutation_p.E65K|TYROBP_uc021utc.1_Non-coding_Transcript	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	76					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	p.A75T(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCACCCTCCGCAGCCCCT	0.632000														44			5		0	0	0.00116845	0	0
KLHL6	89857	broad.mit.edu	37	3	183226039	183226039	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:183226039C>T	uc003flr.3	-	2	775	c.717G>A	c.(715-717)gtG>gtA	p.V239V	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Silent_p.V237V	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	239	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCCAGCTCATCACGGTCTCAA	0.552000														68			11		0	0	0.00185496	0	0
CDH23	64072	broad.mit.edu	37	10	73453962	73453962	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:73453962C>T	uc001jrx.4	+	19	2619	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	CDH23_uc001jry.3_Silent_p.I743I|CDH23_uc001jrz.3_Silent_p.I743I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	745	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACATCCTCATCGTTCGCGCAG	0.632000														22			4		0	0	0.000602214	0	0
KCNH6	81033	broad.mit.edu	37	17	61611549	61611549	+	Silent	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:61611549C>A	uc002jay.3	+	4	1058	c.978C>A	c.(976-978)acC>acA	p.T326T	KCNH6_uc002jax.1_Silent_p.T326T|KCNH6_uc010wpl.2_Silent_p.T203T|KCNH6_uc010wpm.2_Silent_p.T326T|KCNH6_uc002jaz.1_Silent_p.T326T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGTCAACACCAATGATGAGG	0.567000														83			7		0.000274275	0.00141745	0.000274275	1	0
EDA	1896	broad.mit.edu	37	X	69255459	69255459	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:69255459G>A	uc004dxs.3	+	7	1418	c.1176G>A	c.(1174-1176)taG>taA	p.*392*	EDA_uc011mpj.2_Silent_p.*387*|EDA_uc004dxr.3_Silent_p.*390*	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	0					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTGCATCCTAGATTCCCCCCA	0.567000														28			10		0	0	0.00136819	0	0
SYT10	341359	broad.mit.edu	37	12	33559745	33559745	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:33559745T>C	uc001rll.1	-	2	1353	c.1056A>G	c.(1054-1056)aaA>aaG	p.K352K	SYT10_uc009zju.1_Silent_p.K162K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	352						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGTGAATATCTTTCCATACTG	0.343000														46			12		0	0	0.00185496	0	0
COL4A2	1284	broad.mit.edu	37	13	111098181	111098181	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:111098181C>T	uc001vqx.3	+	16	1252	c.963C>T	c.(961-963)agC>agT	p.S321S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	321	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGGAAGCCGAGGCCTGG	0.478000														95			22		0	0	0.00127121	0	0
SCN1A	6323	broad.mit.edu	37	2	166900401	166900401	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:166900401G>A	uc002udo.4	-	12	2048	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	SCN1A_uc010fpk.3_Silent_p.S607S|SCN1A_uc021vsb.1_Silent_p.S607S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	607						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCACAAACAAGGAATCTCTAC	0.527000														26			5		0	0	0.000602214	0	0
GABRG2	2566	broad.mit.edu	37	5	161580306	161580306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:161580306C>T	uc010jjc.3	+	10	1838	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	GABRG2_uc003lyy.4_Missense_Mutation_p.R454W|GABRG2_uc003lyz.4_Missense_Mutation_p.R446W|GABRG2_uc011dej.2_Missense_Mutation_p.R351W	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	446					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTCCTATGCTCGGATCTTCTT	0.463000														97			12		0	0	0.000308642	0	0
OR52N5	390075	broad.mit.edu	37	11	5799749	5799749	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5799749A>T	uc010qzn.2	-	0	149	c.116T>A	c.(115-117)cTc>cAc	p.L39H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P38Q(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CATTGTGCAGAGTGGGAGGGA	0.398000														83			7		0	0	0.000274275	0	0
SGSM1	129049	broad.mit.edu	37	22	25294504	25294505	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25294504_25294505CT>TA	uc003abg.2	+	19	2910_2911	c.2753_2754CT>TA	c.(2752-2754)tct>tTA	p.S918L	SGSM1_uc010guu.1_Missense_Mutation_p.S863L|SGSM1_uc003abh.2_Missense_Mutation_p.S857L|SGSM1_uc003abj.2_Missense_Mutation_p.S802L|SGSM1_uc003abi.1_Missense_Mutation_p.S838L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	918	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCCCTGTGTCTTCCAGCGGCG	0.554000														88			11		0	0	6.4e-05	0	0
CXorf66	347487	broad.mit.edu	37	X	139038113	139038113	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:139038113A>G	uc004fbb.3	-	2	1050	c.1028T>C	c.(1027-1029)aTc>aCc	p.I343T		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	343						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACACGTAATGATTATAACTTT	0.358000														45			8		0	0	0.000157383	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86844860	86844860	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:86844860C>A	uc003hpk.3	+	3	777	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	ARHGAP24_uc003hpj.3_Missense_Mutation_p.Q110K|ARHGAP24_uc003hpl.3_Missense_Mutation_p.Q15K|ARHGAP24_uc010ikf.3_Missense_Mutation_p.Q25K	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	110	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGCAAGCACCCAGAATGATAT	0.468000														26			5		0.00116845	0.00599602	0.00116845	1	0
VSTM4	196740	broad.mit.edu	37	10	50255086	50255086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:50255086G>A	uc001jhf.2	-	6	808	c.779C>T	c.(778-780)cCg>cTg	p.P260L		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	260						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGGGGCTATCGGAGCTGTGGA	0.478000														155			21		0	0	0.000375601	0	0
STBD1	8987	broad.mit.edu	37	4	77230768	77230768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:77230768G>A	uc003hka.3	+	1	1436	c.692G>A	c.(691-693)gGa>gAa	p.G231E	FAM47E_uc003hjy.3_3'UTR|FAM47E_uc011cbv.2_3'UTR|STBD1_uc011cbw.2_Missense_Mutation_p.G82E	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	231					carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			CTAAACCAGGGAATGGACAAT	0.517000														27			4		0	0	0.00024832	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370291	35370291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:35370291G>A	uc001byc.3	-	0	694	c.694C>T	c.(694-696)Cac>Tac	p.H232Y		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	232	Poly-His.				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				tggtggtggtggtgatggtgg	0.657000														36			5		0	0	0.000602214	0	0
RGPD4	285190	broad.mit.edu	37	2	108477287	108477287	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:108477287G>A	uc010ywk.2	+	12	1906	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	608					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTATTGGAAGAAAGTTTTGC	0.318000														152			10		0	0	0.000566183	0	0
CD22	933	broad.mit.edu	37	19	35823687	35823687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:35823687G>A	uc010edt.3	+	2	356	c.272G>A	c.(271-273)aGg>aAg	p.R91K	CD22_uc010edu.3_Missense_Mutation_p.R91K|CD22_uc010edv.3_Missense_Mutation_p.R91K|CD22_uc002nzb.4_Missense_Mutation_p.R91K|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	91	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	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)	GAGCAGAAAAGGGTGCAATTC	0.488000														48			11		0	0	0.00185496	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95664990	95664990	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:95664990C>T	uc003uoc.4	+	12	1618	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	DYNC1I1_uc003uod.4_Silent_p.F430F|DYNC1I1_uc003uob.3_Silent_p.F410F|DYNC1I1_uc003uoe.4_Silent_p.F427F|DYNC1I1_uc010lfl.3_Silent_p.F436F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	447					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAATGGCTTTCCCAACGGGAG	0.478000														70			18		0	0	0.00074312	0	0
DAGLA	747	broad.mit.edu	37	11	61508053	61508053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61508053G>A	uc001nsa.3	+	17	2088	c.1972G>A	c.(1972-1974)Ggg>Agg	p.G658R		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	658					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCATGGAGGGGCTCAACAA	0.577000														84			10		0	0	0.000978159	0	0
DSE	29940	broad.mit.edu	37	6	116747768	116747768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:116747768C>T	uc011ebg.2	+	2	604	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S	DSE_uc011ebf.1_Missense_Mutation_p.P150S|DSE_uc003pws.3_Missense_Mutation_p.P150S|DSE_uc003pwt.3_Missense_Mutation_p.P150S	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	150					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGATGAGGTCCCGCTTGCTCA	0.438000														68			16		0	0	0.00074312	0	0
RIMS2	9699	broad.mit.edu	37	8	104928669	104928669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:104928669G>A	uc003yls.3	+	5	1515	c.1274G>A	c.(1273-1275)aGa>aAa	p.R425K	RIMS2_uc003ylp.3_Missense_Mutation_p.R647K|RIMS2_uc003ylw.2_Missense_Mutation_p.R455K|RIMS2_uc003ylq.3_Missense_Mutation_p.R455K|RIMS2_uc003ylr.3_Missense_Mutation_p.R502K|RIMS2_uc003ylt.3_Missense_Mutation_p.R48K|RIMS2_uc003ylu.1_Missense_Mutation_p.R38K|RIMS2_uc003ylv.1_Missense_Mutation_p.R38K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	725					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGAATGGAAGACTACTGCAA	0.358000										HNSCC(12;0.0054)				36			17		0	0	0.00121646	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778827	14778827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:14778827C>T	uc001rcd.3	-	20	2409	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	758					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATATAGCTTTCATTTTTTTGG	0.358000														68			9		0	0	0.000274275	0	0
OR10H4	126541	broad.mit.edu	37	19	16060184	16060184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:16060184C>T	uc010xov.2	+	0	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGGCTATGATCGCTATGTGGC	0.537000														79			16		0	0	0.000566183	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483120	54483120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:54483120C>T	uc002rxr.2	-	0	290	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	57					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGACCCCCTCCTCTGGAAGC	0.602000														79			13		0	0	0.00074312	0	0
NACAP1	83955	broad.mit.edu	37	8	102381390	102381390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:102381390C>T	uc003ykc.1	+	0	270	c.253C>T	c.(253-255)Caa>Taa	p.Q85*	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		ACTGGGTCTTCAACAGGTTAC	0.458000														78			17		0	0	0.000958276	0	0
ZFAND4	93550	broad.mit.edu	37	10	46148466	46148466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:46148466C>T	uc001jcp.4	-	2	468	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ZFAND4_uc001jcm.4_Missense_Mutation_p.E76K|ZFAND4_uc009xmu.3_Missense_Mutation_p.E2K|ZFAND4_uc001jcn.4_Missense_Mutation_p.E2K|ZFAND4_uc001jco.4_Missense_Mutation_p.E76K|ZFAND4_uc001jcq.2_Non-coding_Transcript|ZFAND4_uc001jcr.2_Missense_Mutation_p.E76K	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	76	Ubiquitin-like.						zinc ion binding										TTTTCAAGTTCCATGTTATTC	0.313000														63			8		0	0	0.000673444	0	0
CEP70	80321	broad.mit.edu	37	3	138289314	138289315	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:138289314_138289315CG>AT	uc003esl.3	-	5	508_509	c.310_311CG>AT	c.(310-312)cga>ATa	p.R104I	CEP70_uc011bmk.2_Missense_Mutation_p.R84I|CEP70_uc011bml.2_Missense_Mutation_p.R86I|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.R104I|CEP70_uc003esn.3_Missense_Mutation_p.R104I	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	104					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						ATTGGCTGCTCGGCTTTGCTCT	0.347000														622			11		0	0	6.4e-05	0	0
EHF	26298	broad.mit.edu	37	11	34680103	34680103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:34680103G>A	uc021qfu.1	+	7	823	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	EHF_uc001mvr.2_Missense_Mutation_p.E211K|EHF_uc009yke.2_Missense_Mutation_p.E188K|EHF_uc009ykf.2_Missense_Mutation_p.E214K	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	211					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TCACTTATGGGAATTCATCCG	0.468000														64			12		0	0	0.000422831	0	0
POLR3A	11128	broad.mit.edu	37	10	79767571	79767572	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79767571_79767572GG>AA	uc001jzn.3	-	14	2095_2096	c.1962_1963CC>TT	c.(1960-1965)acccta>acTTta	p.654_655TL>TL		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	654					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCTGACCCTAGGGTTCCTTTGT	0.436000														92			10		0	0	6.4e-05	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030577	40030577	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:40030577G>A	uc003ayc.3	+	4	588	c.588G>A	c.(586-588)cgG>cgA	p.R196R	CACNA1I_uc003ayd.3_Silent_p.R196R|CACNA1I_uc003aye.3_Silent_p.R111R|CACNA1I_uc003ayf.3_Silent_p.R111R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	196					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.R196W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGGTATGCGGATCCTGGTGA	0.557000														130			36		0	0	0.00195071	0	0
COL23A1	91522	broad.mit.edu	37	5	177694308	177694308	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:177694308C>T	uc021yiz.1	-	8	880	c.522_splice	c.e8+1	p.R174_splice	COL23A1_uc021yiy.1_Splice_Site|COL23A1_uc010jkt.2_Splice_Site_p.G22_splice	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	174	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TGGTTCTTACCCGGGGGCCAA	0.552000														19			8		0	0	0.000673444	0	0
EFCAB6	64800	broad.mit.edu	37	22	44067858	44067858	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44067858G>A	uc003bdy.2	-	14	1949	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	EFCAB6_uc003bdz.2_Silent_p.F393F|EFCAB6_uc010gzi.2_Silent_p.F393F|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTACTTTATGAAATGTGCAT	0.343000														94			12		0	0	0.000308642	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20469973	20469973	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:20469973G>A	uc009vpp.1	+	2	302	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	25					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGCTCAACCTGAAGGCCATGG	0.667000														70			6		0	0	8.12818e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13911601	13911601	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13911601C>T	uc003jfd.2	-	12	1579	c.1537_splice	c.e12-1	p.G513_splice	DNAH5_uc003jfe.1_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	513	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCCACAATGCCCTGAAATAT	0.318000									Kartagener syndrome					91			14		0	0	0.000308642	0	0
GJA10	84694	broad.mit.edu	37	6	90604655	90604655	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:90604655T>C	uc011eaa.2	+	0	468	c.468T>C	c.(466-468)acT>acC	p.T156T		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	156					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T156A(1)|p.R155C(1)|p.R155H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TGCTGCGTACTTATGTCTTAC	0.438000														84			6		0	0	0.00116845	0	0
FAM160B1	57700	broad.mit.edu	37	10	116595897	116595897	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:116595897C>T	uc001lcb.3	+	4	749	c.414C>T	c.(412-414)ctC>ctT	p.L138L	FAM160B1_uc001lcc.3_Silent_p.L138L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	138										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAATTAGACTCTGTGGTGAAG	0.328000														218			25		0	0	0.00127121	0	0
DMBX1	127343	broad.mit.edu	37	1	46978144	46978144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:46978144G>A	uc001cpx.3	+	3	1142	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	DMBX1_uc001cpw.3_Missense_Mutation_p.G371E	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	376					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCCTCCCTGGGACTCGATACG	0.627000														47			6		0	0	8.12818e-05	0	0
ATP7B	540	broad.mit.edu	37	13	52515256	52515256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:52515256C>T	uc001vfw.2	-	15	3674	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	ATP7B_uc001vfy.2_Missense_Mutation_p.E1062K|ATP7B_uc010adv.2_Missense_Mutation_p.E743K|ATP7B_uc001vfx.2_Missense_Mutation_p.E966K|ATP7B_uc010tgt.1_Missense_Mutation_p.E1108K|ATP7B_uc010tgu.1_Missense_Mutation_p.E1125K|ATP7B_uc010tgv.1_Missense_Mutation_p.E1095K|ATP7B_uc001vfv.2_Missense_Mutation_p.E445K|ATP7B_uc010tgs.1_Missense_Mutation_p.E384K	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1173			E -> G (in WD).|E -> K (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCTTTCATCTCGTGGTCTGTC	0.502000									Wilson disease					75			8		0	0	0.000157383	0	0
OR9A4	130075	broad.mit.edu	37	7	141619083	141619083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141619083G>A	uc003vwu.1	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATTATGAACAGACACA	0.458000														159			18		0	0	0.00152264	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797799	148797799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:148797799C>T	uc004fdq.3	+	4	808	c.653C>T	c.(652-654)tCc>tTc	p.S218F	MAGEA11_uc004fdr.3_Missense_Mutation_p.S189F	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	218						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGTCCTTTTCCCAAGATATA	0.483000														36			28		0	0	0.00178596	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204425175	204425175	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:204425175C>T	uc001haw.3	-	11	2231	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	PIK3C2B_uc010pqv.2_Silent_p.K584K|PIK3C2B_uc001hax.1_Silent_p.K584K|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	584					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCCACGACCTTCTCTGGGA	0.582000														22			6		0	0	8.12818e-05	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979493	68979493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:68979493C>T	uc009xpn.1	-	5	838	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CTNNA3_uc001jmw.2_Missense_Mutation_p.D239N|CTNNA3_uc001jmx.4_Missense_Mutation_p.D239N|CTNNA3_uc009xpo.1_Missense_Mutation_p.D99N|CTNNA3_uc001jna.2_Missense_Mutation_p.D251N	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	239					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACTGTGTCCTTGCTTGCT	0.453000														71			8		0	0	0.000274275	0	0
KIAA1751	85452	broad.mit.edu	37	1	1897918	1897918	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:1897918G>A	uc001aim.1	-	11	1449	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	KIAA1751_uc009vkz.1_Silent_p.V431V	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	431										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CACTGGAAACGACTTCCAGCA	0.597000														34			5		0	0	0.00116845	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656262	34656262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:34656262G>A	uc001zig.3	-	4	698	c.604C>T	c.(604-606)Cct>Tct	p.P202S	LPCAT4_uc010bav.1_3'UTR	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTGCCCTCAGGAAAGAATAGC	0.458000														130			6		0	0	0.000157383	0	0
XIRP1	165904	broad.mit.edu	37	3	39228494	39228494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:39228494G>A	uc003cjk.2	-	1	2672	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	XIRP1_uc003cji.3_Missense_Mutation_p.P815S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P815S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	815							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGTATATAAGGGTGCCCCTGC	0.617000														55			5		0	0	0.00116845	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606189	1606189	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:1606189C>T	uc001ltu.1	-	0	325	c.291G>A	c.(289-291)ggG>ggA	p.G97G	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	97	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAACCCCCCTTGGATC	0.677000														32			6		0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	38987049	38987049	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:38987049G>A	uc002oit.3	+	41	6794	c.6664_splice	c.e41-1	p.E2222_splice	RYR1_uc002oiu.3_Splice_Site_p.E2222_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2222	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGTCCCAGGAGATCCGCTT	0.652000														26			4		0	0	0.00116845	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696098	222696098	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:222696098T>C	uc001hnh.1	-	8	2078	c.2020A>G	c.(2020-2022)Agc>Ggc	p.S674G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	674					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTCTTGCTGCTTGTAGGAGAA	0.542000														281			44		0	0	0.000781405	0	0
BAI3	577	broad.mit.edu	37	6	69943248	69943248	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:69943248G>A	uc010kak.3	+	16	2823	c.2547G>A	c.(2545-2547)acG>acA	p.T849T	BAI3_uc003pev.4_Silent_p.T849T|BAI3_uc011dxx.2_Silent_p.T55T	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	849	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCCCATACGAAATGCTTAT	0.483000														101			9		0	0	0.000274275	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341643	157341643	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:157341643C>T	uc003wno.3	-	21	3094	c.2973G>A	c.(2971-2973)acG>acA	p.T991T	PTPRN2_uc003wnp.3_Silent_p.T974T|PTPRN2_uc003wnq.3_Silent_p.T962T|PTPRN2_uc003wnr.3_Silent_p.T953T|PTPRN2_uc011kwa.2_Silent_p.T1014T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	991	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACAGTACCTTCGTCTGGACCA	0.572000														58			12		0	0	0.00185496	0	0
PDE6A	5145	broad.mit.edu	37	5	149324045	149324045	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149324045G>A	uc003lrg.4	-	0	312	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PDE6A_uc021yfs.1_Silent_p.L64L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	64					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTCCCGCAGGAGATCAAAGA	0.532000														40			6		0	0	8.12818e-05	0	0
ZNF560	147741	broad.mit.edu	37	19	9577554	9577554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9577554C>T	uc002mlp.1	-	9	2279	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	ZNF560_uc010dwr.1_Missense_Mutation_p.G584E	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGGAATTTCCACATGCGTT	0.373000														141			17		0	0	0.00152264	0	0
SV2B	9899	broad.mit.edu	37	15	91835670	91835670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:91835670C>T	uc002bqv.3	+	13	2831	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.S496F	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	647					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCTTTGCTTCTTTTGTTGGG	0.488000														344			67		0	0	0.000781405	0	0
ZNF341	84905	broad.mit.edu	37	20	32332926	32332926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:32332926C>T	uc002wzy.3	+	2	180	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	ZNF341_uc002wzx.3_Missense_Mutation_p.L54F|ZNF341_uc010geq.3_Intron|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGATGTATTTCTCTGCGGGAA	0.522000														78			8		0	0	0.000442599	0	0
TRIM45	80263	broad.mit.edu	37	1	117658248	117658248	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117658248C>T	uc001egz.2	-	3	2004	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	TRIM45_uc009whe.2_Silent_p.K454K	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	472						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CGCCAGGTTCCTTGGGGGTGT	0.493000														86			6		0	0	8.12818e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92087131	92087131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92087131G>A	uc001pdj.4	+	0	1870	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	618	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G618E(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCATTTCTGGAAATGAACTT	0.363000										TCGA Ovarian(4;0.039)				279			19		0	0	0.000295444	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102463512	102463512	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:102463512G>A	uc001yks.2	+	15	3869	c.3705G>A	c.(3703-3705)caG>caA	p.Q1235Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1235	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCAGCAGCAGGTGGCAAACC	0.557000														52			7		0	0	0.000157383	0	0
LILRB5	10990	broad.mit.edu	37	19	54760177	54760177	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54760177G>A	uc010yer.1	-	4	467	c.356_splice	c.e4-1	p.A119_splice	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.A128A|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.A128A|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	128	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCGGCAGGGCTAAAAGAG	0.547000														78			16		0	0	0.00121646	0	0
NSMAF	8439	broad.mit.edu	37	8	59536305	59536305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:59536305G>A	uc011lee.2	-	6	573	c.512C>T	c.(511-513)cCc>cTc	p.P171L	NSMAF_uc003xtt.3_Missense_Mutation_p.P140L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	140					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACTTTCCCGGGAACATCCAA	0.373000														34			4		0	0	0.000602214	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077900	19077900	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:19077900C>A	uc001mph.3	-	1	138	c.50G>T	c.(49-51)gGa>gTa	p.G17V	MRGPRX2_uc021qer.1_Missense_Mutation_p.G17V	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	17					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.G17E(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TTGGTCATTTCCATTCACTGT	0.522000														163			31		1.69901e-12	8.85428e-12	0.00111076	1	0
DLG5	9231	broad.mit.edu	37	10	79576792	79576792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79576792G>A	uc001jzk.3	-	18	3917	c.3847C>T	c.(3847-3849)Ccg>Tcg	p.P1283S	DLG5_uc001jzi.3_Missense_Mutation_p.P38S|DLG5_uc001jzj.3_Missense_Mutation_p.P698S|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P887S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1283					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.P1283L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACACTCCGCGGATATCTTGGT	0.507000														92			7		0	0	0.000157383	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387753	77387753	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77387753C>T	uc002ffc.4	-	9	1910	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	ADAMTS18_uc010chc.1_Silent_p.E85E|ADAMTS18_uc002ffe.1_Silent_p.E193E	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	497	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTGCTTGGGCTCATCCACTA	0.423000														128			21		0	0	0.00047179	0	0
ABCC3	8714	broad.mit.edu	37	17	48741198	48741198	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:48741198C>T	uc002isl.3	+	8	1235	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	ABCC3_uc002isk.4_Silent_p.I385I|ABCC3_uc002ism.3_Silent_p.I67I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	385	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTACTGGGATCATGGGTGTCA	0.552000														28			8		0	0	0.000673444	0	0
DNAH3	55567	broad.mit.edu	37	16	20996486	20996486	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20996486G>A	uc010vbe.2	-	47	7578	c.7578C>T	c.(7576-7578)atC>atT	p.I2526I	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2526	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTCTCCACGATGTCAGCCT	0.473000														42			10		0	0	0.000978159	0	0
UTP15	84135	broad.mit.edu	37	5	72874889	72874889	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:72874889G>A	uc003kcw.1	+	10	1417	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	UTP15_uc011cso.1_Silent_p.K379K|UTP15_uc011csp.1_Silent_p.K208K|UTP15_uc010ize.1_Silent_p.K398K	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	398					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CCATCATAAAGGAGTTAAATC	0.373000														54			8		0	0	0.000274275	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996309	19996309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:19996309C>T	uc002ktv.1	-	0	1570	c.1466G>A	c.(1465-1467)gGt>gAt	p.G489D		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	489						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGGTGAGGGACCATATGGGGA	0.413000														96			11		0	0	0.000219431	0	0
METTL24	728464	broad.mit.edu	37	6	110636592	110636592	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:110636592A>T	uc010kdu.1	-	2	510	c.510T>A	c.(508-510)aaT>aaA	p.N170K	METTL24_uc003pub.2_Intron	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	170						extracellular region											GATGAGCTAAATTGAACCTGT	0.458000														87			7		0	0	8.12818e-05	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610462	38610462	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:38610462C>T	uc002ohk.3	+	8	3317	c.2808C>T	c.(2806-2808)atC>atT	p.I936I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	936					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGACCACATCTTCCTACAGG	0.542000														41			8		0	0	0.000157383	0	0
F11	2160	broad.mit.edu	37	4	187197404	187197404	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187197404C>T	uc003iza.1	+	6	948	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	205	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGGACATTTTCCCTAATACGG	0.468000														34			6		0	0	0.000157383	0	0
GABRG2	2566	broad.mit.edu	37	5	161576178	161576178	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:161576178C>T	uc010jjc.3	+	8	1465	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GABRG2_uc003lyy.4_Silent_p.V329V|GABRG2_uc003lyz.4_Silent_p.V329V|GABRG2_uc011dej.2_Silent_p.V234V	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	329					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCCCCAAGGTCTCCTATGTCA	0.468000														42			12		0	0	0.00136819	0	0
ADRB2	154	broad.mit.edu	37	5	148207326	148207326	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:148207326T>G	uc003lpr.2	+	0	1171	c.932T>G	c.(931-933)cTa>cGa	p.L311R	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	311					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TACATCCTCCTAAATTGGATA	0.488000														91			11		0	0	0.000673444	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612496	96612496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96612496G>A	uc010qnz.2	+	8	1298	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	CYP2C19_uc010qny.2_Missense_Mutation_p.R411Q	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433Q(2)|p.R433W(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCAGGAAAACGGATTTGTGTG	0.428000														50			6		0	0	0.000274275	0	0
PLBD1	79887	broad.mit.edu	37	12	14664330	14664330	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:14664330G>A	uc001rcc.1	-	7	1211	c.1050C>T	c.(1048-1050)acC>acT	p.T350T		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	350					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GATTGTTATAGGTGCCTGAAA	0.393000														92			6		0	0	8.12818e-05	0	0
APOB	338	broad.mit.edu	37	2	21234609	21234609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21234609C>T	uc002red.3	-	25	5259	c.5131G>A	c.(5131-5133)Gga>Aga	p.G1711R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1711					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	p.L1710L(1)		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)	TAAGCACTTCCCAGTGATAGC	0.458000														337			54		0	0	0.000781405	0	0
FGGY	55277	broad.mit.edu	37	1	60104002	60104003	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:60104002_60104003CC>TT	uc009wac.3	+	10	1388_1389	c.1176_1177CC>TT	c.(1174-1179)ttccat>ttTTat	p.H393Y	FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.H393Y|FGGY_uc001czl.4_Missense_Mutation_p.H305Y|FGGY_uc001czm.4_Missense_Mutation_p.H94Y	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	393					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGCCAGATTTCCATGGCAACCG	0.465000														78			6		0	0	6.4e-05	0	0
NPHS1	4868	broad.mit.edu	37	19	36339882	36339882	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36339882G>A	uc002oby.3	-	7	1164	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	336					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCACAGGTGACCTGCAGTG	0.602000														89			20		0	0	0.00188189	0	0
DCC	1630	broad.mit.edu	37	18	50683759	50683759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:50683759C>T	uc002lfe.2	+	7	1911	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	DCC_uc010xdr.1_Missense_Mutation_p.P280L|DCC_uc010dpf.2_Missense_Mutation_p.P87L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	432	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P432P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTCGGCTCCCAGAGATGTG	0.532000														94			21		0	0	0.000878237	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468939	137468939	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:137468939G>T	uc003qhl.3	-	5	863	c.562C>A	c.(562-564)Caa>Aaa	p.Q188K	IL22RA2_uc003qhn.3_Intron|IL22RA2_uc003qhm.3_Missense_Mutation_p.Q156K	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	188	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TTTTCCTTTTGGTATCTATAT	0.303000														216			8		0.000442599	0.00228164	0.000442599	1	0
TGM6	343641	broad.mit.edu	37	20	2376066	2376066	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2376066C>T	uc002wfy.1	+	2	469	c.408C>T	c.(406-408)ttC>ttT	p.F136F	TGM6_uc010gal.1_Silent_p.F136F	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	136					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCTCCTTTTCAACCCATGGT	0.572000														89			13		0	0	0.00074312	0	0
ACADM	34	broad.mit.edu	37	1	76198367	76198367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:76198367C>T	uc001dgw.4	+	2	587	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	ACADM_uc010orc.1_Missense_Mutation_p.R53C|ACADM_uc010ord.2_5'UTR|ACADM_uc009wbr.3_Missense_Mutation_p.R53C|ACADM_uc010ore.2_Missense_Mutation_p.R17C|ACADM_uc010orf.2_5'UTR|ACADM_uc009wbp.3_Missense_Mutation_p.R57C|ACADM_uc010org.2_5'UTR	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53			R -> C (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGCTACTGCTCGTAAATTTGC	0.343000														173			11		0	0	0.00136819	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151343	89151343	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89151343G>A	uc021suc.1	+	0		c.6G>A								Homo sapiens microRNA 1179 (MIR1179), microRNA.																		TTATTGGCTGGAAAGGAAGAA	0.373000														194			13		0	0	0.00074312	0	0
CDH22	64405	broad.mit.edu	37	20	44815246	44815246	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:44815246G>A	uc002xrm.2	-	8	2043	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	CDH22_uc010ghk.1_Silent_p.F548F	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAAGCAGAGAGAAATGAGGGT	0.577000														36			8		0	0	0.000274275	0	0
OSMR	9180	broad.mit.edu	37	5	38903999	38903999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:38903999C>T	uc003jln.2	+	7	1409	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	336	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTAATGAATCCTTTTAGTGTC	0.299000														46			7		0	0	0.000157383	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43770404	43770404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:43770404G>A	uc010skx.2	-	32	5048	c.5048C>T	c.(5047-5049)aCc>aTc	p.T1683I		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1683	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCATGTTTGGTAATGCATTT	0.338000														45			10		0	0	0.000673444	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574471	11574471	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:11574471G>A	uc001ash.4	+	3	1479	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PTCHD2_uc001asi.1_Silent_p.G447G	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	447					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTATGGGGGGACAGACCTGT	0.512000														58			21		0	0	0.00188189	0	0
SI	6476	broad.mit.edu	37	3	164764689	164764689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:164764689C>T	uc003fei.3	-	15	1890	c.1827G>A	c.(1825-1827)tgG>tgA	p.W609*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	609	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W609L(1)|p.W609*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCATTTGTTCCCATGAAGCAG	0.393000										HNSCC(35;0.089)				64			9		0	0	0.000673444	0	0
ZNF536	9745	broad.mit.edu	37	19	30936214	30936214	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:30936214T>A	uc002nsu.1	+	1	1883	c.1745T>A	c.(1744-1746)tTg>tAg	p.L582*	ZNF536_uc010edd.1_Nonsense_Mutation_p.L582*	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGCTGATTTGGTTCACAGC	0.512000														70			6		0	0	0.00116845	0	0
ABCC8	6833	broad.mit.edu	37	11	17485016	17485016	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17485016A>T	uc001mnc.3	-	3	674	c.548T>A	c.(547-549)cTc>cAc	p.L183H	ABCC8_uc010rcy.1_Missense_Mutation_p.L183H	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	183					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCCACGAGGAGCAGCATCCC	0.597000														217			26		0	0	0.000586117	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763543	92763543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92763543G>A	uc003umh.1	-	4	2958	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	SAMD9L_uc003umj.1_Missense_Mutation_p.S581F|SAMD9L_uc003umi.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S581F|SAMD9L_uc003umk.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S581F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S581F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	581								p.S581F(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGTTTACAGAGATACACAA	0.353000														77			7		0	0	0.000157383	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24665	24665	+	RNA	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrGL000241.1:24665T>A	uc011mgv.2	-	4		c.548A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TTGACAGCCGTAAACTGCTCT	0.284000														41			5		0	0	0.000958276	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245231	137245231	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:137245231C>T	uc003qhe.3	+	1	813	c.648C>T	c.(646-648)acC>acT	p.T216T		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	216					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ACGCCTGGACCTTCCCGGGCT	0.647000														20			5		0	0	0.000602214	0	0
MERTK	10461	broad.mit.edu	37	2	112751858	112751858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:112751858G>A	uc002thk.1	+	8	1449	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	MERTK_uc002thl.1_Missense_Mutation_p.G267S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	443	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGCCAGAATGGCAGCCGAGC	0.532000														98			6		0	0	0.000157383	0	0
GPR97	222487	broad.mit.edu	37	16	57717958	57717958	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57717958G>A	uc002emh.3	+	8	1099	c.996G>A	c.(994-996)aaG>aaA	p.K332K	GPR97_uc010vhv.2_Silent_p.K212K|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	332					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCTCAAAGGGGTCTGATG	0.597000														53			6		0	0	8.12818e-05	0	0
ITK	3702	broad.mit.edu	37	5	156649894	156649894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156649894G>A	uc003lwo.1	+	5	599	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	173	SH3.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAACCTGAAGAAACTGTGGT	0.488000			T	SYK	peripheral T-cell lymphoma									226			20		0	0	0.000375601	0	0
ZNF383	163087	broad.mit.edu	37	19	37733712	37733712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:37733712C>T	uc002oft.1	+	7	1154	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	ZNF383_uc002ofs.1_Missense_Mutation_p.H127Y|ZNF383_uc002ofu.1_Missense_Mutation_p.H192Y	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATATTGGTGA	0.338000														36			15		0	0	0.000422831	0	0
IGBP1P1	280655	broad.mit.edu	37	14	35409455	35409455	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:35409455G>A	uc010tpo.1	+	0		c.328G>A								Homo sapiens immunoglobulin (CD79A) binding protein 1 pseudogene 1 (IGBP1P1), non-coding RNA.																		AGAGGATGATGAACAAACACT	0.493000														44			8		0	0	0.000157383	0	0
DPF2	5977	broad.mit.edu	37	11	65113820	65113820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:65113820C>T	uc001odm.3	+	8	1140	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	336					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCGGCACCTCCGAGAATGAC	0.517000														18			4		0	0	0.00024832	0	0
COL4A1	1282	broad.mit.edu	37	13	110850934	110850934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:110850934C>T	uc001vqw.4	-	20	1287	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	389	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCCTCTTTCACCAGGGAAG	0.597000														58			15		0	0	0.000958276	0	0
CD5L	922	broad.mit.edu	37	1	157805837	157805837	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:157805837A>T	uc001frk.4	-	2	307	c.164T>A	c.(163-165)aTt>aAt	p.I55N		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	55	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACGTCCTTAATGTCCCAGCC	0.607000														85			6		0	0	8.12818e-05	0	0
PLA1A	51365	broad.mit.edu	37	3	119325719	119325719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:119325719C>T	uc003ecu.3	+	1	238	c.172C>T	c.(172-174)Cct>Tct	p.P58S	PLA1A_uc003ecv.3_Missense_Mutation_p.P58S|PLA1A_uc011bjc.2_Intron|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	58					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTTGTCCCTTCGAATCC	0.507000														161			16		0	0	0.000422831	0	0
SAA2-SAA4	100528017	broad.mit.edu	37	11	18253192	18253192	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18253192G>A	uc021qel.1	-	5	560	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	SAA2-SAA4_uc001mny.3_Nonsense_Mutation_p.Q84*	NM_001199744	NP_001186673			Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA.																		ATTAATCCCTGAAGATAGACC	0.493000														29			6		0	0	0.000157383	0	0
CCND2	894	broad.mit.edu	37	12	4398042	4398042	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:4398042C>T	uc001qmo.3	+	3	911	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	202					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCGATGATCGCAACTGGAA	0.542000			T	IGL@	"""NHL,CLL"""									138			30		0	0	0.000814825	0	0
INADL	10207	broad.mit.edu	37	1	62582814	62582814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62582814G>A	uc001dab.3	+	36	4928	c.4814G>A	c.(4813-4815)gGa>gAa	p.G1605E	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.G419E|INADL_uc009wag.3_Missense_Mutation_p.G389E	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1605	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Q1604*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGCACAGGGACTTGTGCAG	0.463000														45			10		0	0	0.000978159	0	0
C16orf73	254528	broad.mit.edu	37	16	1884340	1884340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:1884340C>T	uc010uvq.1	-	13	1528	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R	FAHD1_uc002cnd.3_Intron|FAHD1_uc010brz.3_Intron|C16orf73_uc002cne.2_Missense_Mutation_p.G416R|C16orf73_uc010uvr.2_Missense_Mutation_p.G238R	NM_001163560	NP_001157032	Q8N635	CP073_HUMAN	Homo sapiens chromosome 16 open reading frame 73 (C16orf73), transcript variant 1, mRNA.	416					meiosis	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						ATTTTCAATCCACTCCTTGCT	0.373000														65			10		0	0	0.00136819	0	0
LOC646214	646214	broad.mit.edu	37	15	21937794	21937794	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:21937794G>A	uc010tzj.1	-	0		c.2946C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTAGTTTGGTGATATTTGAGG	0.448000														167			12		0	0	0.000978159	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559123	140559124	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140559123_140559124CC>TT	uc011dai.2	+	0	1753_1754	c.1508_1509CC>TT	c.(1507-1509)tcc>tTT	p.S503F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCCA	0.668000														430			15		0	0	6.4e-05	0	0
STIM1	6786	broad.mit.edu	37	11	4103438	4103438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4103438G>A	uc021qco.1	+	7	1562	c.994G>A	c.(994-996)Gag>Aag	p.E332K	STIM1_uc001lyv.2_Missense_Mutation_p.E332K|STIM1_uc009yef.2_Missense_Mutation_p.E332K|STIM1_uc009yeg.2_Missense_Mutation_p.E159K	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	332	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGAAAGCAGAGAAGGAGCT	0.478000														69			10		0	0	0.000673444	0	0
NBEA	26960	broad.mit.edu	37	13	35716467	35716467	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:35716467T>C	uc021rid.1	+	17	2932	c.2398T>C	c.(2398-2400)Ttg>Ctg	p.L800L	NBEA_uc021ric.1_Silent_p.L800L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	800						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAGGCTGATGTTGCATACAAA	0.363000														188			9		0	0	0.00136819	0	0
EPAS1	2034	broad.mit.edu	37	2	46603782	46603782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:46603782G>A	uc002ruv.3	+	8	1649	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	380					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.G380V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGGCAAGGGGGCTGTGTCT	0.542000														74			18		0	0	0.000958276	0	0
NLRP10	338322	broad.mit.edu	37	11	7981482	7981482	+	Silent	SNP	C	T	T	rs138475841		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7981482C>T	uc001mfv.1	-	1	1694	c.1677G>A	c.(1675-1677)agG>agA	p.R559R		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	559							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATCCCAGGTCCTGTTGTGCT	0.373000														112			6		0	0	0.00116845	0	0
PANX1	24145	broad.mit.edu	37	11	93913146	93913146	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:93913146G>A	uc001per.3	+	3	1309	c.924G>A	c.(922-924)gtG>gtA	p.V308V	PANX1_uc001peq.3_Silent_p.V308V	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	308					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTCAAAGTGTACGAAATCC	0.438000														23			7		0	0	8.12818e-05	0	0
MYH3	4621	broad.mit.edu	37	17	10536920	10536920	+	Silent	SNP	G	A	A	rs74406856	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10536920G>A	uc002gmq.2	-	32	4723	c.4635C>T	c.(4633-4635)ctC>ctT	p.L1545L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1545					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGCTTCCTCGAGAGCCAGCT	0.532000														56			5		0	0	0.00116845	0	0
RERGL	79785	broad.mit.edu	37	12	18234187	18234187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:18234187C>T	uc001rdq.3	-	5	750	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	186	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GATTTAGATCCACTGGGACGT	0.388000														41			9		0	0	0.000978159	0	0
FAM83F	113828	broad.mit.edu	37	22	40415903	40415903	+	Missense_Mutation	SNP	C	T	T	rs141068393		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:40415903C>T	uc003ayk.1	+	2	764	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	224										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CATCCGTGTCCGCTCTGTGAC	0.602000														50			10		0	0	0.000442599	0	0
FERMT1	55612	broad.mit.edu	37	20	6088216	6088216	+	Missense_Mutation	SNP	C	T	T	rs144791466		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:6088216C>T	uc002wmr.3	-	5	1601	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	FERMT1_uc010gbt.3_Missense_Mutation_p.R14Q|FERMT1_uc002wms.3_Missense_Mutation_p.R271Q|FERMT1_uc002wmt.3_Missense_Mutation_p.R14Q	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	271	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATATTTAAATCGTAAGAGCAG	0.373000														60			9		0	0	0.000673444	0	0
TXNDC16	57544	broad.mit.edu	37	14	52981633	52981633	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:52981633G>A	uc001wzs.3	-	7	1019	c.570C>T	c.(568-570)gtC>gtT	p.V190V	TXNDC16_uc010tqu.2_Silent_p.V185V|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	190					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTGTGGTTAAGACAAATTGGT	0.353000														114			17		0	0	0.00074312	0	0
CD86	942	broad.mit.edu	37	3	121825261	121825261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121825261C>T	uc003eet.3	+	3	745	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CD86_uc011bjo.2_Missense_Mutation_p.S124L|CD86_uc011bjp.2_Missense_Mutation_p.S94L|CD86_uc003eeu.3_Missense_Mutation_p.S200L|CD86_uc021xcz.1_Missense_Mutation_p.S200L	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	206	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTGTCTGTTTCATTCCCTGAT	0.393000														137			11		0	0	0.000978159	0	0
DENND2C	163259	broad.mit.edu	37	1	115168137	115168137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:115168137G>A	uc001efd.1	-	3	1171	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P157S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	157										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATCTGGGGGAAGTGCTTCT	0.368000														82			9		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21232762	21232762	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21232762C>T	uc002red.3	-	25	7106	c.6978G>A	c.(6976-6978)ggG>ggA	p.G2326G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2326				LIG -> PYW (in Ref. 16; AAA51741).	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)	CTTCAAAATCCCCAATAAGAT	0.338000														390			29		0	0	0.00178596	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798397	140798397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140798397G>A	uc003lkn.2	+	0	1138	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.R324Q|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	325	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAAGACCGAGGATCTCTC	0.388000														31			8		0	0	0.000157383	0	0
APCS	325	broad.mit.edu	37	1	159558471	159558471	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159558471C>T	uc001ftv.3	+	1	741	c.645C>T	c.(643-645)gtC>gtT	p.V215V		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	215	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GAGGATATGTCATCATCAAAC	0.473000														48			15		0	0	0.000566183	0	0
MXRA5	25878	broad.mit.edu	37	X	3248173	3248173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3248173G>A	uc004crg.4	-	3	752	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	199						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGCTGGCAGGAAGAGTTCTA	0.483000														14			4		0	0	0.000602214	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55250975	55250975	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55250975C>T	uc002qgx.3	+	1	94	c.57C>T	c.(55-57)gcC>gcT	p.A19A	KIR2DL1_uc010erw.1_Silent_p.A19A|KIR2DL1_uc002qgz.1_5'UTR|KIR2DL1_uc002qha.1_5'Flank	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	19					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.A19S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGCAGGGGGCCTGGCCACATG	0.562000														43			8		0	0	0.00121646	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231600	142231600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142231600G>A	uc003vyh.2	-	1	415	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAATATACAGATGTCTGGGA	0.527000														64			15		0	0	0.000958276	0	0
SLC13A5	284111	broad.mit.edu	37	17	6607295	6607295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:6607295G>A	uc002gdj.3	-	3	537	c.449C>T	c.(448-450)cCc>cTc	p.P150L	SLC13A5_uc010clq.3_Missense_Mutation_p.P107L|SLC13A5_uc002gdk.3_Missense_Mutation_p.P133L|SLC13A5_uc010vtf.2_Missense_Mutation_p.P150L|SLC13A5_uc002gdl.1_Missense_Mutation_p.P132L	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	150						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CTCCACGATGGGCACCATCAT	0.632000														25			5		0	0	0.00116845	0	0
SOGA3	387104	broad.mit.edu	37	6	127796726	127796726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:127796726C>T	uc003qbd.3	-	5	3310	c.2445G>A	c.(2443-2445)atG>atA	p.M815I	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	815						integral to membrane											GGATGTCCTTCATCTGCTGCC	0.672000														82			10		0	0	0.000978159	0	0
abParts	0	broad.mit.edu	37	22	22730614	22730614	+	RNA	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:22730614G>A	uc021wml.1	+	49		c.5420G>A								Parts of antibodies, mostly variable regions.																		TGGAGCATCAGCCAGTCTCAC	0.547000														81			14		0	0	0.00121646	0	0
TAF1L	138474	broad.mit.edu	37	9	32633276	32633276	+	Missense_Mutation	SNP	G	A	A	rs149009358		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:32633276G>A	uc003zrg.1	-	0	2392	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	768					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTGGAGCACGAAAAAGGTTG	0.413000														58			10		0	0	0.000442599	0	0
HIPK1	204851	broad.mit.edu	37	1	114483056	114483056	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:114483056C>T	uc001eem.3	+	1	212	c.51C>T	c.(49-51)gcC>gcT	p.A17A	HIPK1_uc001eel.3_Silent_p.A17A|HIPK1_uc001een.3_Silent_p.A17A	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTCGAGTGCCTTCTGCAGTG	0.458000														196			13		0	0	0.000308642	0	0
IGSF9	57549	broad.mit.edu	37	1	159901284	159901284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159901284G>A	uc001fur.2	-	11	1670	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V	IGSF9_uc001fuq.2_Missense_Mutation_p.A475V|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	491	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGGCCACAGCATTGCTGGC	0.617000														34			10		0	0	0.000978159	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406292	17406292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:17406292G>A	uc011kye.2	+	3	806	c.758G>A	c.(757-759)gGa>gAa	p.G253E	SLC7A2_uc011kyc.2_Missense_Mutation_p.G213E|SLC7A2_uc011kyd.2_Missense_Mutation_p.G253E	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	213					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTTGTGAAAGGAAATGTGGCA	0.358000														128			15		0	0	0.000308642	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716882	13716882	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:13716882C>T	uc009vnz.1	+	1	399	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	123										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCCTCTCCTGCTCCCCAG	0.537000														121			17		0	0	0.00188189	0	0
SCAPER	49855	broad.mit.edu	37	15	76643603	76643603	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:76643603C>T	uc002bby.3	-	29	4133	c.4074G>A	c.(4072-4074)gcG>gcA	p.A1358A	SCAPER_uc010bkr.3_Silent_p.A616A|SCAPER_uc002bbx.3_Silent_p.A1112A	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1357						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTGGTTTTCCGCTTGACCTG	0.383000														45			5		0	0	0.00116845	0	0
HDAC9	9734	broad.mit.edu	37	7	18767250	18767250	+	Silent	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:18767250T>G	uc003sui.3	+	11	1820	c.1779T>G	c.(1777-1779)gcT>gcG	p.A593A	HDAC9_uc003sue.3_Silent_p.A590A|HDAC9_uc011jyd.2_Silent_p.A590A|HDAC9_uc003suh.3_Silent_p.A590A|HDAC9_uc003suj.3_Silent_p.A549A|HDAC9_uc003sua.1_Silent_p.A568A|HDAC9_uc010kue.1_Silent_p.A245A	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	590					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCGCCAAGCTCCGCTGGCTG	0.547000														11			4		0	0	0.00116845	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926500	67926500	+	Missense_Mutation	SNP	G	A	A	rs78084492		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:67926500G>A	uc001onm.1	-	10	1569	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	SUV420H1_uc009yse.1_Missense_Mutation_p.P24L|SUV420H1_uc001onn.1_Missense_Mutation_p.P266L|SUV420H1_uc009ysf.2_Missense_Mutation_p.P198L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAGTTTCTTTGGTACCCTGGA	0.388000														78			15		0	0	0.00074312	0	0
IL23R	149233	broad.mit.edu	37	1	67648522	67648522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:67648522C>T	uc001ddo.3	+	3	456	c.371C>T	c.(370-372)cCg>cTg	p.P124L	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Missense_Mutation_p.P81L|IL23R_uc010opl.2_5'UTR|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_5'UTR|IL23R_uc010opn.2_Intron|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_5'UTR|IL23R_uc010opp.1_Non-coding_Transcript|IL23R_uc010opq.1_5'UTR|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_5'UTR|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_5'UTR|IL23R_uc010opt.2_5'UTR|IL23R_uc010opu.2_5'UTR|IL23R_uc010opv.2_5'UTR|IL23R_uc010opw.2_5'UTR|IL23R_uc010opx.2_5'UTR|IL23R_uc010opy.2_5'UTR|IL23R_uc010opz.2_5'UTR|IL23R_uc010oqa.2_5'UTR|IL23R_uc010oqb.2_5'UTR|IL23R_uc010oqc.2_5'UTR|IL23R_uc010oqd.2_5'UTR|IL23R_uc010oqe.2_5'UTR|IL23R_uc010oqg.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	124	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGCAGATCCGCCAGATATT	0.438000														147			9		0	0	0.000673444	0	0
CCDC136	64753	broad.mit.edu	37	7	128450282	128450282	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:128450282G>A	uc003vnv.2	+	11	2306	c.1890G>A	c.(1888-1890)caG>caA	p.Q630Q	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Silent_p.Q446Q|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_Silent_p.Q240Q	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	630						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGCTGATACAGAACCAAGACT	0.473000														23			6		0	0	0.000157383	0	0
PPRC1	23082	broad.mit.edu	37	10	103901671	103901671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:103901671C>T	uc001kum.3	+	4	3445	c.3406C>T	c.(3406-3408)Cac>Tac	p.H1136Y	PPRC1_uc001kun.3_Missense_Mutation_p.H1016Y|PPRC1_uc010qqj.2_Missense_Mutation_p.H1136Y|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1136	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCTGCTGTCCACCCAGCCCG	0.582000														26			4		0	0	0.00024832	0	0
LCLAT1	253558	broad.mit.edu	37	2	30748456	30748456	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:30748456C>T	uc002rnj.3	+	2	323	c.114C>T	c.(112-114)atC>atT	p.I38I	LCLAT1_uc010ymp.2_Intron|LCLAT1_uc002rnk.1_Silent_p.I38I|LCLAT1_uc002rnl.3_5'UTR|LCLAT1_uc010ymq.2_5'UTR	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	38					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CTTTCAGAATCATGGTGTCAT	0.333000														123			8		0	0	0.000673444	0	0
PSG3	5671	broad.mit.edu	37	19	43376039	43376039	+	Missense_Mutation	SNP	C	T	T	rs1058692		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43376039C>T	uc002ovd.1	-	2	727	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E197K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E197K|PSG3_uc002ovb.3_Missense_Mutation_p.E197K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	197	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTTC	0.527000														200			16		0	0	0.000422831	0	0
PPM1B	5495	broad.mit.edu	37	2	44428981	44428982	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:44428981_44428982CC>AA	uc002rtt.3	+	1	1071_1072	c.643_644CC>AA	c.(643-645)cca>AAa	p.P215K	PPM1B_uc002rts.3_Missense_Mutation_p.P215K|PPM1B_uc002rtu.3_Missense_Mutation_p.P215K|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.P215K|PPM1B_uc002rtx.3_Missense_Mutation_p.P215K	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	215					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.G214V(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCAAGGGCCCAACAGAACAA	0.436000														347			10		0	0	6.4e-05	0	0
IFT122	55764	broad.mit.edu	37	3	129221686	129221686	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:129221686C>T	uc003eml.3	+	20	2867	c.2661C>T	c.(2659-2661)tcC>tcT	p.S887S	IFT122_uc003emm.3_Silent_p.S836S|IFT122_uc003emn.3_Silent_p.S777S|IFT122_uc003emo.3_Silent_p.S725S|IFT122_uc003emp.3_Silent_p.S686S|IFT122_uc010htc.3_Silent_p.S828S|IFT122_uc011bky.2_Silent_p.S627S|IFT122_uc011bla.2_Silent_p.S609S|IFT122_uc003emr.3_Silent_p.S588S|IFT122_uc010hte.3_Silent_p.S162S|IFT122_uc003ems.3_Silent_p.S217S|IFT122_uc011bkx.1_Silent_p.S676S|IFT122_uc010htd.1_Silent_p.S315S	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	836					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACCTCAAGTCCCTGGTGCAGC	0.647000														40			6		0	0	0.000157383	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419872	56419872	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:56419872C>T	uc002rzn.3	+	1	1039	c.537C>T	c.(535-537)ggC>ggT	p.G179G	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	179										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGGTGCAGGCTGCGCAGGCA	0.607000														40			5		0	0	0.00116845	0	0
DGKI	9162	broad.mit.edu	37	7	137092656	137092656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:137092656C>T	uc003vtt.3	-	30	2910	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D	DGKI_uc003vtu.3_Missense_Mutation_p.G639D	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	970					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.T969T(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCCCCGTTGCCGGTTTTAGC	0.428000														84			9		0	0	0.000274275	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113659148	113659148	+	Missense_Mutation	SNP	C	T	T	rs138939818	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113659148C>T	uc003eaq.4	+	16	1940	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.R455C|GRAMD1C_uc003eas.3_Missense_Mutation_p.R417C|GRAMD1C_uc003eat.3_Missense_Mutation_p.R281C	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	622						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCAGGCCCATCGTTTAAAGGG	0.403000														215			19		0	0	0.00152264	0	0
APOB	338	broad.mit.edu	37	2	21260887	21260887	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21260887G>A	uc002red.3	-	4	608	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	160	Vitellogenin.				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)	GGGCAGAAATGATGCCCCTCT	0.483000														350			18		0	0	0.00152264	0	0
CCKAR	886	broad.mit.edu	37	4	26483462	26483462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:26483462G>A	uc003gse.1	-	4	1238	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	362					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACGCAGGAGGAGGTGTAGGA	0.627000														81			6		0	0	0.00116845	0	0
NLRP12	91662	broad.mit.edu	37	19	54313965	54313965	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54313965C>T	uc002qcj.4	-	2	1168	c.948G>A	c.(946-948)gaG>gaA	p.E316E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.E316E|NLRP12_uc002qci.4_Silent_p.E316E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.E316E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	316	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGGCCGTTTCTCCTCCCAGC	0.567000														39			8		0	0	0.000442599	0	0
PRB1	5542	broad.mit.edu	37	12	11506726	11506727	+	Missense_Mutation	DNP	CC	TT	TT	rs144687469		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11506726_11506727CC>TT	uc001qzw.1	-	2	347_348	c.310_311GG>AA	c.(310-312)gga>AAa	p.G104K	PRB1_uc001qzu.1_Missense_Mutation_p.G104K|PRB1_uc001qzv.1_Missense_Mutation_p.G104K	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	104	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGGT	0.619000														298			9		0	0	6.4e-05	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224024	42224024	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:42224024C>T	uc002orl.3	+	6	1789	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	CEACAM5_uc002orj.1_Silent_p.L555L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	556	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACAGGACCCTCACTCTATTCA	0.527000														93			9		0	0	0.000673444	0	0
FLNB	2317	broad.mit.edu	37	3	58124041	58124041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:58124041G>A	uc003djj.2	+	28	5059	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	FLNB_uc010hne.2_Missense_Mutation_p.E1663K|FLNB_uc003djk.2_Missense_Mutation_p.E1632K|FLNB_uc010hnf.2_Missense_Mutation_p.E1632K|FLNB_uc003djl.2_Missense_Mutation_p.E1463K|FLNB_uc003djm.2_Missense_Mutation_p.E1463K	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1632					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAAACTGGCGAAGAAGTAGG	0.537000														74			10		0	0	0.00136819	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657116	46657117	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46657116_46657117CC>TT	uc003bhh.3	-	0	2103_2104	c.2103_2104GG>AA	c.(2101-2106)aaggat>aaAAat	p.D702N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	702	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGTAAAAAATCCTTCTTTTGAA	0.386000														78			6		0	0	6.4e-05	0	0
PRB2	653247	broad.mit.edu	37	12	11546467	11546467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11546467C>T	uc010shk.1	-	2	580	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G182G(1)|p.G182E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.597000														150			21		0	0	0.001512	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343152	69343153	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69343152_69343153GG>TT	uc003hdz.4	+	7	837_838	c.773_774GG>TT	c.(772-774)cgg>cTT	p.R258L		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	258	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AAAATGAAACGGGGTCTCCGGA	0.381000														165			9		0	0	6.4e-05	0	0
THSD7B	80731	broad.mit.edu	37	2	138000129	138000129	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:138000129G>A	uc002tva.1	+	8	2160	c.2160G>A	c.(2158-2160)agG>agA	p.R720R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.R610R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCCCAAGGATGTGCCAAG	0.478000														25			6		0	0	8.12818e-05	0	0
GCKR	2646	broad.mit.edu	37	2	27731106	27731106	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:27731106G>A	uc002rky.3	+	15	1476	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	GCKR_uc010ezd.3_Silent_p.G468G|GCKR_uc010ylu.2_Silent_p.G280G	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	470	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AATATGAAGGGAACTTCATCC	0.493000														86			10		0	0	0.00136819	0	0
VEPH1	79674	broad.mit.edu	37	3	157188156	157188156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:157188156C>T	uc003fbj.2	-	2	720	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	VEPH1_uc003fbk.2_Missense_Mutation_p.E101K|VEPH1_uc010hvu.2_Missense_Mutation_p.E101K|VEPH1_uc021xgk.1_Missense_Mutation_p.E101K|VEPH1_uc003fbn.3_Missense_Mutation_p.E101K|VEPH1_uc003fbm.3_Missense_Mutation_p.E101K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	101						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGAGTGTCTTCGTCTTTCCCA	0.473000														47			6		0	0	8.12818e-05	0	0
LPIN1	23175	broad.mit.edu	37	2	11955296	11955296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:11955296G>A	uc010yjm.2	+	18	2532	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	LPIN1_uc010yjn.2_Missense_Mutation_p.E742K|LPIN1_uc002rbt.3_Missense_Mutation_p.E742K|LPIN1_uc010yjo.2_Missense_Mutation_p.E243K	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	742	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.E826E(1)|p.L827L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGGGTCAACGAGAGGGGCAC	0.592000														20			6		0	0	8.12818e-05	0	0
COLQ	8292	broad.mit.edu	37	3	15512102	15512102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:15512102C>T	uc003bzx.3	-	10	784	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	COLQ_uc003bzv.3_Missense_Mutation_p.E210K|COLQ_uc010heo.3_Missense_Mutation_p.E186K|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.E79K	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	220	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATCCCAGGTTCACCTTTTGGA	0.537000														98			9		0	0	0.000978159	0	0
LILRB1	10859	broad.mit.edu	37	19	55148000	55148000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55148000C>T	uc002qgj.3	+	14	2043	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.S569F|LILRB1_uc002qgk.3_Missense_Mutation_p.S569F|LILRB1_uc002qgm.3_Missense_Mutation_p.S570F|LILRB1_uc010erq.3_Missense_Mutation_p.S552F|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	568					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTGAAACACTCCAGACCTAGG	0.577000										HNSCC(37;0.09)				27			5		0	0	0.00116845	0	0
NLRC5	84166	broad.mit.edu	37	16	57060688	57060688	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57060688G>A	uc021tiu.1	+	4	1960	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	NLRC5_uc021tit.1_Silent_p.K611K|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.K416K|NLRC5_uc021tiw.1_Silent_p.K416K|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	611					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGGCCAAAGGTTGTAGAGC	0.582000														28			4		0	0	0.00024832	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357582	118357582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:118357582G>A	uc001lco.1	+	7	736	c.718G>A	c.(718-720)Ggt>Agt	p.G240S	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G240S	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	240					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCAACAGATGGGTCATCTTGA	0.468000														50			7		0	0	8.12818e-05	0	0
EOMES	8320	broad.mit.edu	37	3	27758656	27758656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:27758656G>A	uc003cdy.3	-	5	2023	c.2023C>T	c.(2023-2025)Ccc>Tcc	p.P675S	EOMES_uc003cdx.3_Missense_Mutation_p.P656S|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.P380S	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	656	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTATGGAGGGTGAATTTTCA	0.423000														136			17		0	0	0.00121646	0	0
OR4F15	390649	broad.mit.edu	37	15	102358695	102358695	+	Silent	SNP	C	T	T	rs137948998		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:102358695C>T	uc010uts.2	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCAGATCTTCTTTAGCCATG	0.448000														62			5		0	0	0.00116845	0	0
ZNF610	162963	broad.mit.edu	37	19	52869061	52869061	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52869061A>G	uc002pyx.4	+	5	836	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	ZNF610_uc002pyy.4_Missense_Mutation_p.K144E|ZNF610_uc002pyz.4_Missense_Mutation_p.K101E|ZNF610_uc002pza.3_Missense_Mutation_p.K144E	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R143G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGCCGGAAGGAAAATTTACAG	0.353000														197			18		0	0	0.000958276	0	0
SERPINA6	866	broad.mit.edu	37	14	94776090	94776090	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94776090G>A	uc001ycv.3	-	2	971	c.867C>T	c.(865-867)tcC>tcT	p.S289S	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	289					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGGCCTGCGGACCACCTGT	0.557000														49			5		0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9068484	9068484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9068484G>A	uc002mkp.3	-	2	19166	c.18962C>T	c.(18961-18963)cCt>cTt	p.P6321L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6323	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGAGTCAGGTGAGACAGT	0.463000														61			9		0	0	0.000274275	0	0
MYT1L	23040	broad.mit.edu	37	2	1926913	1926913	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1926913T>A	uc002qxe.3	-	9	1455	c.628A>T	c.(628-630)Aaa>Taa	p.K210*	MYT1L_uc002qxd.3_Nonsense_Mutation_p.K210*|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	210					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCAGCGATTTTGCCGAGGTTT	0.423000														35			5		0	0	0.000602214	0	0
ROR1	4919	broad.mit.edu	37	1	64644176	64644176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:64644176C>T	uc001dbj.2	+	8	2851	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	818	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GCGATTCATTCCCATCAATGG	0.527000														31			12		0	0	0.000978159	0	0
DES	1674	broad.mit.edu	37	2	220286089	220286089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220286089G>A	uc002vll.3	+	5	1137	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	351	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCAGATGCGGGAATTGGAGGA	0.587000														31			6		0	0	0.000157383	0	0
OR5L1	219437	broad.mit.edu	37	11	55579528	55579528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:55579528G>A	uc001nhw.1	+	0	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACTGTGAATGAGACACTGCT	0.443000														98			9		0	0	0.000442599	0	0
ERCC3	2071	broad.mit.edu	37	2	128047394	128047394	+	Silent	SNP	G	A	A	rs114994654	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:128047394G>A	uc002toh.1	-	4	623	c.528C>T	c.(526-528)ttC>ttT	p.F176F	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Silent_p.F112F|ERCC3_uc002tog.1_Silent_p.F112F|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_3'UTR	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	176					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AACTTTCAACGAAGTATCTGC	0.512000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					83			12		0	0	0.000308642	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158628	50158628	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:50158628C>T	uc001zxu.3	-	25	3223	c.3081G>A	c.(3079-3081)ggG>ggA	p.G1027G	ATP8B4_uc010ber.3_Silent_p.G900G|ATP8B4_uc010ufd.2_Silent_p.G837G|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Silent_p.G30G	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1027					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G1027V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGGCAATGCTCCCCCAGATGA	0.383000														52			6		0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724888	140724888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140724888C>T	uc003ljm.2	+	0	1288	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.P430S	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	432	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGAAGCCCGCCACTGTC	0.478000														62			5		0	0	0.00116845	0	0
NAA35	60560	broad.mit.edu	37	9	88593212	88593212	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:88593212A>T	uc004aoi.4	+	10	930	c.793A>T	c.(793-795)Atg>Ttg	p.M265L	NAA35_uc004aoj.4_Missense_Mutation_p.M265L|NAA35_uc004aok.1_Missense_Mutation_p.M265L	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	265					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCAAAAATTGATGGTTCAAGC	0.348000														78			12		0	0	0.000219431	0	0
KIAA1217	56243	broad.mit.edu	37	10	24810719	24810719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:24810719C>T	uc001iru.4	+	11	2720	c.2317C>T	c.(2317-2319)Cca>Tca	p.P773S	KIAA1217_uc001irs.3_Missense_Mutation_p.P693S|KIAA1217_uc001irt.4_Missense_Mutation_p.P738S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P738S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P738S|KIAA1217_uc001irv.1_Missense_Mutation_p.P588S|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.P456S|KIAA1217_uc001irz.3_Missense_Mutation_p.P456S|KIAA1217_uc001irx.3_Missense_Mutation_p.P456S|KIAA1217_uc001iry.3_Missense_Mutation_p.P456S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	773					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAGAATTTCCAACCTTACA	0.537000														118			28		0	0	0.00127121	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327636	88327636	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:88327636G>A	uc001vln.3	+	2	212	c.-7_splice	c.e2-1		SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_5'Flank	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.							integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCCTTACAGGAGGTAAAATG	0.398000														51			8		0	0	0.000274275	0	0
OR2J3	442186	broad.mit.edu	37	6	29079995	29079995	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29079995C>T	uc011dll.2	+	0	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTTCTCGCACTGGGAACCAC	0.498000														106			7		0	0	8.12818e-05	0	0
ABCC6	368	broad.mit.edu	37	16	16302616	16302616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:16302616C>T	uc002den.4	-	6	800	c.763G>A	c.(763-765)Gag>Aag	p.E255K	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.E267K	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	255					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCATCCACTCCTTTTCAAGC	0.547000														50			14		0	0	0.000422831	0	0
DNAH7	56171	broad.mit.edu	37	2	196619118	196619118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196619118G>A	uc002utj.4	-	62	11808	c.11707C>T	c.(11707-11709)Ctt>Ttt	p.L3903F	DNAH7_uc002uti.4_Missense_Mutation_p.L386F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3903					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAACCCAAGAAGATCAATA	0.483000														49			10		0	0	0.000673444	0	0
UVRAG	7405	broad.mit.edu	37	11	75562961	75562962	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:75562961_75562962CG>AT	uc001oxc.3	+	1	392_393	c.151_152CG>AT	c.(151-153)cgg>ATg	p.R51M	UVRAG_uc010rrw.2_5'UTR	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	51	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.R51R(4)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CATTGCTGCCCGGAACATTGTT	0.391000														143			6		0	0	6.4e-05	0	0
FAT1	2195	broad.mit.edu	37	4	187521261	187521261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187521261C>T	uc003izf.3	-	21	12082	c.11894G>A	c.(11893-11895)aGa>aAa	p.R3965K		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3965	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGAGGACTTCTTCCATGCCT	0.493000										HNSCC(5;0.00058)				98			7		0	0	0.000274275	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473546	53473546	+	RNA	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53473546C>T	uc002qan.4	-	3		c.955G>A								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TTTTTTCTCTCCTAAATGGAT	0.358000														41			13		0	0	0.00136819	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995380	10995380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:10995380G>A	uc003mzp.4	-	4	526	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	122					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TACTGATTTGGAGAAATAGTA	0.413000														88			20		0	0	0.000375601	0	0
COL9A1	1297	broad.mit.edu	37	6	70948986	70948986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:70948986C>T	uc003pfg.4	-	32	2242	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	COL9A1_uc003pfe.4_Missense_Mutation_p.D244N|COL9A1_uc003pff.4_Missense_Mutation_p.D452N	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	695	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G694R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AATCCTATATCTCCCTAAATC	0.264000														95			27		0	0	0.000409698	0	0
CDC14C	168448	broad.mit.edu	37	7	48964873	48964873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:48964873C>T	uc010kyv.1	+	0	717	c.605C>T	c.(604-606)tCa>tTa	p.S202L						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GGACCTCATTCAAGAGCCAGA	0.343000														56			12		0	0	0.00074312	0	0
ZNF429	353088	broad.mit.edu	37	19	21719397	21719397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:21719397C>T	uc002nqd.1	+	3	679	c.542C>T	c.(541-543)tCa>tTa	p.S181L	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGTGGCAAATCATTTTGCATG	0.313000														53			8		0	0	0.000442599	0	0
PDE6A	5145	broad.mit.edu	37	5	149323966	149323966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149323966C>T	uc003lrg.4	-	0	391	c.271G>A	c.(271-273)Gca>Aca	p.A91T	PDE6A_uc021yfs.1_Missense_Mutation_p.A91T	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	91	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGCGGTCTGCCTGCAGGAGG	0.517000														46			8		0	0	0.000442599	0	0
GRIK1	2897	broad.mit.edu	37	21	30971201	30971201	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:30971201C>T	uc002yno.1	-	7	1619	c.1155G>A	c.(1153-1155)agG>agA	p.R385R	GRIK1_uc002ynn.3_Silent_p.R385R|GRIK1_uc011acs.2_Silent_p.R385R|GRIK1_uc011act.2_Silent_p.R329R|GRIK1_uc010glq.1_Silent_p.R243R|GRIK1_uc002ynr.3_Silent_p.R385R|GRIK1-AS2_uc002ynp.1_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	385					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAAATCCTTCCTCAAGCCAT	0.363000														107			19		0	0	0.00152264	0	0
ANO2	57101	broad.mit.edu	37	12	5963215	5963215	+	Silent	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:5963215G>T	uc001qnm.2	-	3	687	c.615C>A	c.(613-615)acC>acA	p.T205T	ANO2_uc021qtt.1_Silent_p.T209T	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	209						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATACTTTCTTGGTAGGAACTT	0.512000														173			9		0.000442599	0.00228164	0.000442599	1	0
NLRP6	171389	broad.mit.edu	37	11	282771	282771	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:282771C>T	uc010qvs.2	+	4	2175	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	NLRP6_uc010qvt.2_Silent_p.D724D	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	725						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAATGACTGACCCACTGTGCC	0.587000														69			10		0	0	0.000673444	0	0
SERPINB13	5275	broad.mit.edu	37	18	61255990	61255990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:61255990C>T	uc010xep.2	+	1	257	c.89C>T	c.(88-90)tCc>tTc	p.S30F	SERPINB13_uc002ljc.3_Missense_Mutation_p.S30F|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	30					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCTTCTTTTCCCCTGTGGGC	0.532000														39			7		0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773107	140773107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140773107C>T	uc003lkd.2	+	0	1625	c.727C>T	c.(727-729)Cct>Tct	p.P243S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.P243S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	243	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGTTTTTCCTCACCCGAT	0.577000														100			6		0	0	0.00116845	0	0
MXRA5	25878	broad.mit.edu	37	X	3242419	3242419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3242419G>A	uc004crg.4	-	4	1464	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	436						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATATCTATGGATGGCTGCAT	0.483000														40			16		0	0	0.00121646	0	0
GAP43	2596	broad.mit.edu	37	3	115395152	115395152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:115395152C>T	uc003ebr.2	+	2	1105	c.431C>T	c.(430-432)cCt>cTt	p.P144L	GAP43_uc003ebq.2_Missense_Mutation_p.P108L	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	108					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGAGAAACTCCTTCCGAGGAG	0.627000														28			7		0	0	8.12818e-05	0	0
BICC1	80114	broad.mit.edu	37	10	60560789	60560789	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:60560789G>A	uc001jki.1	+	13	1998	c.1998G>A	c.(1996-1998)acG>acA	p.T666T	BICC1_uc001jkj.1_Silent_p.T307T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	666					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGCAAGGCACGAAAAACTCAC	0.383000														29			7		0	0	0.000978159	0	0
PDILT	204474	broad.mit.edu	37	16	20373857	20373857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20373857C>T	uc002dhc.1	-	9	1508	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	429	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.E429K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGCCCAATTCCTCCAACAGT	0.458000														67			13		0	0	0.000308642	0	0
FAM83B	222584	broad.mit.edu	37	6	54805191	54805191	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:54805191C>T	uc003pck.3	+	4	1538	c.1422C>T	c.(1420-1422)atC>atT	p.I474I		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	474										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATAACCATATCCGCTTTTTGC	0.408000														48			11		0	0	0.00136819	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207721	140207721	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140207721C>T	uc003lho.2	+	0	72	c.45C>T	c.(43-45)ctC>ctT	p.L15L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.L15L|PCDHAC2_uc011dab.2_Silent_p.L15L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	25					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L15L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGTCTGCTCCTCCCGCTTC	0.532000														102			11		0	0	0.000673444	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528373	65528373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:65528373C>T	uc003xvj.2	-	2	929	c.725G>A	c.(724-726)aGa>aAa	p.R242K		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	242					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATTTTCTCTCTAATAGACTT	0.328000														94			5		0	0	0.00116845	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766737	77766737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:77766737C>T	uc003yau.2	+	9	7967	c.7580C>T	c.(7579-7581)cCg>cTg	p.P2527L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2482L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2526R(1)|p.N2527H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCACTCTCCGTTCTTGGAA	0.507000										HNSCC(33;0.089)				112			12		0	0	0.000219431	0	0
CHRDL2	25884	broad.mit.edu	37	11	74407598	74407598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:74407598C>T	uc001ovh.3	-	11	1554	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	CHRDL2_uc001ovg.3_Missense_Mutation_p.E300K|CHRDL2_uc001ovi.3_Missense_Mutation_p.E416K	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	0					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					ACCTTCAGCTCCAGGGTCTGG	0.483000														74			8		0	0	0.000274275	0	0
ZNF208	7757	broad.mit.edu	37	19	22171598	22171598	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22171598G>A	uc021urr.1	-	1	266	c.117C>T	c.(115-117)aaC>aaT	p.N39N	ZNF208_uc002nqo.1_Silent_p.N39N|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGAAGACCAGGTTTCTGTAGT	0.423000														91			10		0	0	0.000978159	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515917	140515917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140515917C>T	uc003liq.3	+	0	1118	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGAAATTCGCCTGAAAAG	0.438000														127			16		0	0	0.00074312	0	0
MYH11	4629	broad.mit.edu	37	16	15853472	15853472	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:15853472G>A	uc002ddx.3	-	12	1490	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	MYH11_uc002ddv.3_Silent_p.F461F|MYH11_uc002ddw.3_Silent_p.F454F|MYH11_uc002ddy.3_Silent_p.F454F|MYH11_uc010bvg.3_Silent_p.F286F|MYH11_uc002dea.1_Silent_p.F160F	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	454	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGATCCCCAGGAAGGAAGCCC	0.527000			T	CBFB	AML									87			18		0	0	0.00121646	0	0
PTPN12	5782	broad.mit.edu	37	7	77256323	77256323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:77256323C>T	uc003ugh.2	+	12	1418	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	PTPN12_uc011kgp.1_Missense_Mutation_p.L324F|PTPN12_uc011kgq.1_Missense_Mutation_p.L313F|PTPN12_uc010lds.2_Missense_Mutation_p.L175F	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	443						soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAAGGTCCCTCTCCAAGAGGG	0.333000														41			10		0	0	0.000673444	0	0
OSBPL6	114880	broad.mit.edu	37	2	179248804	179248804	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179248804C>T	uc002uly.3	+	18	2533	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Silent_p.S638S|OSBPL6_uc010zfe.2_Silent_p.S607S|OSBPL6_uc002ulz.3_Silent_p.S602S|OSBPL6_uc002uma.3_Silent_p.S642S	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	638					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GATACTGCTCCACCTATTTCA	0.443000														176			15		0	0	0.000422831	0	0
PAPPA	5069	broad.mit.edu	37	9	118950271	118950271	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:118950271G>A	uc004bjn.3	+	1	1635	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	PAPPA_uc011lxp.1_Silent_p.K211K|PAPPA_uc011lxq.2_Silent_p.K211K	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	418	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACATCAGCAAGATTGGGGATG	0.617000														39			5		0	0	0.00116845	0	0
MORC1	27136	broad.mit.edu	37	3	108751619	108751619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108751619C>T	uc003dxl.3	-	15	1600	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	MORC1_uc011bhn.2_Missense_Mutation_p.E505K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	505					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAAAAATTCTTTTTCCTGA	0.289000														75			11		0	0	0.000978159	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281992	71281992	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:71281992G>A	uc002jjn.3	-	1	795	c.648C>T	c.(646-648)tcC>tcT	p.S216S	CDC42EP4_uc002jjo.3_Silent_p.S216S|CDC42EP4_uc002jjp.1_Silent_p.S146S|CDC42EP4_uc021ucn.1_Silent_p.S216S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	216					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CACCCAGCATGGAGGGCCCCA	0.627000														43			10		0	0	0.000219431	0	0
CDKL5	6792	broad.mit.edu	37	X	18627627	18627627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:18627627C>T	uc004cym.3	+	13	2342	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	CDKL5_uc004cyn.3_Missense_Mutation_p.P697S|CDKL5_uc022btn.1_Missense_Mutation_p.P688S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	697					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGCACAGCCCCCAAAGAAAA	0.463000														38			9		0	0	0.000978159	0	0
FLT1	2321	broad.mit.edu	37	13	29008292	29008292	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:29008292G>A	uc001usb.3	-	4	864	c.579C>T	c.(577-579)atC>atT	p.I193I	FLT1_uc010aar.1_Silent_p.I193I|FLT1_uc001usc.3_Silent_p.I193I|FLT1_uc010tdp.1_Silent_p.I193I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	193	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CATTTGATATGATGAAGCCCT	0.408000														49			11		0	0	0.00136819	0	0
OR10T2	128360	broad.mit.edu	37	1	158368669	158368669	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158368669T>A	uc010pih.2	-	0	588	c.588A>T	c.(586-588)aaA>aaT	p.K196N		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCCAGCTCTTTCACATGGG	0.433000														27			9		0	0	0.000274275	0	0
NMUR2	56923	broad.mit.edu	37	5	151784282	151784282	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:151784282G>A	uc003luv.2	-	0	559	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	131					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGATGGAGGCGAAGCACACGG	0.627000														42			8		0	0	0.000673444	0	0
ABL2	27	broad.mit.edu	37	1	179084114	179084114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:179084114G>A	uc001gmj.4	-	8	1747	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	ABL2_uc010pnf.2_Missense_Mutation_p.P487L|ABL2_uc010png.2_Missense_Mutation_p.P466L|ABL2_uc010pnh.2_Missense_Mutation_p.P466L|ABL2_uc009wxe.3_Missense_Mutation_p.P466L|ABL2_uc001gmg.4_Missense_Mutation_p.P472L|ABL2_uc001gmi.4_Missense_Mutation_p.P472L|ABL2_uc010pne.2_Missense_Mutation_p.P451L	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	487	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P451L(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTCAATACCTGGATATGGTGA	0.408000			T	ETV6	AML									73			21		0	0	0.000375601	0	0
SFRP2	6423	broad.mit.edu	37	4	154709608	154709608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:154709608G>A	uc003inv.1	-	0	621	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	127	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GGACATGACCGGGGCGCAGCG	0.647000														66			6		0	0	0.000157383	0	0
XDH	7498	broad.mit.edu	37	2	31604543	31604543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:31604543G>A	uc002rnv.1	-	11	1167	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	363	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATGAACACGGGGTTGAGGTC	0.577000														25			6		0	0	0.000157383	0	0
OR7C1	26664	broad.mit.edu	37	19	14910907	14910907	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14910907G>A	uc010xnz.2	-	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	14					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAAATCCCAGGAGGAGAAATT	0.443000														135			8		0	0	0.000157383	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138111	126138111	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:126138111G>A	uc001uhe.1	+	9	2100	c.2092_splice	c.e9-1	p.E698_splice	TMEM132B_uc001uhf.1_Splice_Site_p.E210_splice	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	698						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTTCCTCAGGAAGCAATAGT	0.313000														97			16		0	0	0.000422831	0	0
FMO2	2327	broad.mit.edu	37	1	171174721	171174721	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:171174721C>T	uc001ghk.1	+	6	1248	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	FMO2_uc010pmd.1_Silent_p.S157S	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	377					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCTAGGTTCCATTTTCCCAA	0.468000														35			11		0	0	0.000219431	0	0
GLI2	2736	broad.mit.edu	37	2	121747721	121747721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:121747721G>A	uc010flp.3	+	12	4261	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.E1083K|GLI2_uc002tmu.4_Missense_Mutation_p.E1066K	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1411					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCAGTCAGGAAACAGCAGA	0.697000														20			5		0	0	0.000602214	0	0
CNGA3	1261	broad.mit.edu	37	2	99008422	99008422	+	Missense_Mutation	SNP	G	A	A	rs141395850		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:99008422G>A	uc010fij.3	+	6	815	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	CNGA3_uc002syt.3_Missense_Mutation_p.R221Q|CNGA3_uc002syu.3_Missense_Mutation_p.R203Q			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	221					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGCTTGTACGAGCTCGGACA	0.597000														35			7		0	0	0.000157383	0	0
OR8B12	219858	broad.mit.edu	37	11	124413290	124413290	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124413290C>T	uc010sam.2	-	0	261	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGATGTTCTTCCTTGAGACAA	0.433000														35			10		0	0	0.000673444	0	0
LOC338651	338651	broad.mit.edu	37	11	1619548	1619548	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:1619548C>T	uc009ycx.1	+	1	1399	c.648C>T	c.(646-648)tcC>tcT	p.S216S	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_5'Flank					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		TGTGGAGCTCCCTGAGCCTGG	0.532000														76			12		0	0	0.000308642	0	0
KCNH2	3757	broad.mit.edu	37	7	150649761	150649761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150649761C>T	uc003wic.3	-	5	1710	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	KCNH2_uc003wib.3_Missense_Mutation_p.E97K|KCNH2_uc011kux.2_Missense_Mutation_p.E341K|KCNH2_uc003wid.3_Missense_Mutation_p.E97K|KCNH2_uc003wie.3_Missense_Mutation_p.E437K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	437					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGGCCTTCTTCCGTCTCCTTC	0.597000														66			17		0	0	0.00152264	0	0
MYCT1	80177	broad.mit.edu	37	6	153043241	153043241	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:153043241C>T	uc003qpc.4	+	1	569	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	187						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGGTGACTCTCCCTTCTTCCA	0.493000														45			9		0	0	0.000673444	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464517	141464517	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141464517C>T	uc003vwp.1	+	0	621	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	187					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCTTGGGACTCTGTGGTACCT	0.498000														23			11		0	0	0.00136819	0	0
OPRK1	4986	broad.mit.edu	37	8	54141974	54141974	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:54141974C>T	uc003xrh.1	-	2	1401	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	OPRK1_uc022aup.1_Silent_p.R222R|OPRK1_uc003xri.1_Silent_p.R342R|OPRK1_uc010lyc.1_Silent_p.R253R	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	342					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R342L(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCAGAAGTCCCGGAAACACC	0.493000														44			7		0	0	0.000157383	0	0
KCNK5	8645	broad.mit.edu	37	6	39159208	39159208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:39159208C>T	uc003oon.3	-	4	1322	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	320					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGGCCCGTCTCCCCACCCCCG	0.622000														63			12		0	0	0.00136819	0	0
ZNF610	162963	broad.mit.edu	37	19	52869059	52869059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52869059G>A	uc002pyx.4	+	5	834	c.428G>A	c.(427-429)aGg>aAg	p.R143K	ZNF610_uc002pyy.4_Missense_Mutation_p.R143K|ZNF610_uc002pyz.4_Missense_Mutation_p.R100K|ZNF610_uc002pza.3_Missense_Mutation_p.R143K	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R143G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAAGCCGGAAGGAAAATTTAC	0.358000														201			19		0	0	0.000958276	0	0
GRIK4	2900	broad.mit.edu	37	11	120852905	120852905	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:120852905G>A	uc001pxn.2	+	19	2773	c.2486G>A	c.(2485-2487)tGg>tAg	p.W829*	GRIK4_uc009zaw.1_Nonsense_Mutation_p.W829*|GRIK4_uc009zax.1_Nonsense_Mutation_p.W829*	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	829					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAGTTTTTATGGACTCTCAGA	0.423000														203			22		0	0	0.00188189	0	0
GRAMD3	65983	broad.mit.edu	37	5	125819252	125819252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:125819252C>T	uc011cwt.2	+	8	1114	c.878C>T	c.(877-879)tCt>tTt	p.S293F	GRAMD3_uc003ktu.3_Missense_Mutation_p.S278F|GRAMD3_uc011cwv.2_Missense_Mutation_p.S286F|GRAMD3_uc011cww.2_Missense_Mutation_p.S174F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.S169F|GRAMD3_uc011cwz.2_Missense_Mutation_p.S262F|GRAMD3_uc011cwu.1_Missense_Mutation_p.S262F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ACTCCTGAATCTGAGAACTCT	0.383000														45			9		0	0	0.000442599	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220462	67220462	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:67220462C>T	uc002erx.1	-	7	1624	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	KIAA0895L_uc002ert.3_5'Flank|KIAA0895L_uc002eru.3_5'Flank|EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Silent_p.R112R|EXOC3L1_uc010vje.1_Silent_p.R358R|EXOC3L1_uc002ery.1_Silent_p.R363R	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	461					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CAGCAAACCTCCTCAAGAATG	0.552000														42			8		0	0	0.000673444	0	0
OR8B2	26595	broad.mit.edu	37	11	124253113	124253113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124253113G>A	uc010sai.2	-	0	127	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCAAGCCAAGGTTGCCTACC	0.423000														58			6		0	0	0.00116845	0	0
CELF4	56853	broad.mit.edu	37	18	34855192	34855192	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:34855192A>G	uc002lae.2	-	3	859	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CELF4_uc021uix.1_Missense_Mutation_p.F154L|CELF4_uc021uiy.1_Missense_Mutation_p.F155L|CELF4_uc002lag.2_Missense_Mutation_p.F145L|CELF4_uc002laf.2_Missense_Mutation_p.F150L|CELF4_uc002lai.2_Missense_Mutation_p.F140L|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_5'Flank	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	155	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ATGCCCACGAAGAGTTTTCTA	0.622000														55			10		0	0	0.000673444	0	0
NUDCD3	23386	broad.mit.edu	37	7	44444178	44444178	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:44444178G>T	uc003tkz.3	-	3	833	c.647C>A	c.(646-648)tCa>tAa	p.S216*	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	216	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						AAGGGCCACTGAGACCTGGGG	0.552000														49			6		8.12818e-05	0.000420589	8.12818e-05	1	0
TPH1	7166	broad.mit.edu	37	11	18042610	18042610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18042610C>T	uc001mnp.2	-	9	1289	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	421					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GCAGCTCATTCATGGCACTGG	0.433000														172			12		0	0	0.00136819	0	0
C20orf196	149840	broad.mit.edu	37	20	5843758	5843758	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:5843758G>A	uc002wmf.3	+	2	354	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	89										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGTCAGAGAAGGAAGAGGATG	0.463000														62			10		0	0	0.000978159	0	0
SEC23A	10484	broad.mit.edu	37	14	39545159	39545159	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:39545159A>G	uc001wup.1	-	7	1190	c.967T>C	c.(967-969)Tat>Cat	p.Y323H	SEC23A_uc010tqa.1_Missense_Mutation_p.Y185H|SEC23A_uc010tqb.1_Missense_Mutation_p.Y294H|SEC23A_uc010tqc.1_Missense_Mutation_p.Y185H	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	323					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTTTAACATATTTGGCATTG	0.378000														87			5		0	0	8.12818e-05	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172302	207172302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207172302C>T	uc002vbp.2	+	4	3300	c.3050C>T	c.(3049-3051)gCt>gTt	p.A1017V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1017							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTCAAGTAGCTGTTAACAAA	0.343000														52			6		0	0	8.12818e-05	0	0
ATG7	10533	broad.mit.edu	37	3	11406164	11406164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:11406164C>T	uc003bwc.3	+	15	1948	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	ATG7_uc003bwd.3_Missense_Mutation_p.R611W|ATG7_uc011aum.2_Missense_Mutation_p.R572W	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	611					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAGTGACGATCGGATGAATGA	0.488000														115			15		0	0	0.000958276	0	0
CASZ1	54897	broad.mit.edu	37	1	10720040	10720040	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:10720040C>T	uc001aro.3	-	5	1379	c.1059G>A	c.(1057-1059)ggG>ggA	p.G353G	CASZ1_uc001arp.1_Silent_p.G353G|CASZ1_uc009vmx.2_Silent_p.G377G|CASZ1_uc001arq.1_Silent_p.G212G	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCTGCCCTCCCCGGGTTTGA	0.637000														87			7		0	0	0.000157383	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423618	47423618	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:47423618C>A	uc010ekv.3	+	0	1686	c.1686C>A	c.(1684-1686)tgC>tgA	p.C562*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	562					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCCCCAGCTGCCCAGCTTGTG	0.458000														103			9		3.09899e-07	1.60758e-06	0.000274275	1	0
RAI2	10742	broad.mit.edu	37	X	17819704	17819704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:17819704C>T	uc022btm.1	-	0	427	c.427G>A	c.(427-429)Gag>Aag	p.E143K	RAI2_uc004cyf.3_Missense_Mutation_p.E143K|RAI2_uc004cyg.3_Missense_Mutation_p.E143K|RAI2_uc011miy.2_Missense_Mutation_p.E93K|RAI2_uc022btl.1_Missense_Mutation_p.E143K|RAI2_uc004cyh.4_Missense_Mutation_p.E143K|RAI2_uc010nfa.3_Missense_Mutation_p.E143K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	143					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATGGGGCCTCCTGCGGCAGG	0.657000														27			17		0	0	0.00121646	0	0
TPRN	286262	broad.mit.edu	37	9	140086682	140086682	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140086682C>G	uc004clt.3	-	2	2102	c.2102G>C	c.(2101-2103)gGg>gCg	p.G701A	TPRN_uc004clu.3_Intron	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GTCAGACTCCCCCCAGCGCTC	0.662000														37			3		0	0	0.00024832	0	0
ESYT3	83850	broad.mit.edu	37	3	138191578	138191578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:138191578G>A	uc003esk.3	+	17	2340	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	705						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AAGTCACCCAGACCCATGAAA	0.597000														259			51		0	0	0.000781405	0	0
TEX15	56154	broad.mit.edu	37	8	30704856	30704856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:30704856C>T	uc003xil.3	-	0	1678	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	560										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGGTATCTTCTTCACTCTCT	0.353000														62			6		0	0	0.000157383	0	0
COL5A1	1289	broad.mit.edu	37	9	137674560	137674560	+	Silent	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:137674560T>G	uc004cfe.3	+	28	2860	c.2478T>G	c.(2476-2478)ggT>ggG	p.G826G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	826	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.K825N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCATCAAGGGTGATCGGGTGA	0.592000														104			8		0	0	0.000442599	0	0
SPEF2	79925	broad.mit.edu	37	5	35807353	35807353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35807353C>T	uc003jjo.3	+	35	5488	c.5377C>T	c.(5377-5379)Cct>Tct	p.P1793S	SPEF2_uc003jjp.1_Missense_Mutation_p.P1279S|SPEF2_uc003jjr.3_Missense_Mutation_p.P848S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1793					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTATAAGTTTCCTGTGAGTAT	0.423000														127			14		0	0	0.00074312	0	0
CDH4	1002	broad.mit.edu	37	20	60511930	60511930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:60511930G>A	uc002ybn.2	+	15	2768	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CDH4_uc002ybr.2_Missense_Mutation_p.D857N|CDH4_uc002ybp.2_Missense_Mutation_p.D820N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	894					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAAGACTACGATTACCTCAA	0.587000														39			10		0	0	0.000978159	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930542	31930542	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31930542C>T	uc003nyn.1	+	11	1652	c.1263C>T	c.(1261-1263)atC>atT	p.I421I	SKIV2L_uc011dou.1_Silent_p.I263I|SKIV2L_uc011dov.1_Silent_p.I228I	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	421	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTGGGTCATCTTTGATGAGG	0.562000														180			65		0	0	0.000781405	0	0
SENP7	57337	broad.mit.edu	37	3	101044876	101044876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:101044876G>A	uc003dut.3	-	23	3175	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	SENP7_uc003duu.3_Missense_Mutation_p.P957S|SENP7_uc003duv.3_Missense_Mutation_p.P989S|SENP7_uc003duw.3_Missense_Mutation_p.P956S|SENP7_uc003dux.3_Missense_Mutation_p.P858S|SENP7_uc003dus.3_Missense_Mutation_p.P210S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	1022	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.P956T(1)|p.P1022T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACATGACGAGGAAACCACTTC	0.363000														29			5		0	0	0.000602214	0	0
OR5C1	392391	broad.mit.edu	37	9	125551214	125551214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125551214G>A	uc011lzd.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCAGTAGGATGAACTCAGAGA	0.572000														45			18		0	0	0.000375601	0	0
ANKRD54	129138	broad.mit.edu	37	22	38229733	38229733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:38229733G>A	uc003auc.3	-	3	613	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ANKRD54_uc003aud.3_Missense_Mutation_p.P46S	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	169										lung(1)	1	Melanoma(58;0.045)					CGCTGGTTAGGATCAGCACCA	0.537000														53			7		0	0	0.000157383	0	0
PCDH15	65217	broad.mit.edu	37	10	55955563	55955563	+	Silent	SNP	A	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:55955563A>G	uc010qhy.1	-	11	1595	c.1200T>C	c.(1198-1200)ttT>ttC	p.F400F	PCDH15_uc010qhq.2_Silent_p.F400F|PCDH15_uc010qhr.2_Silent_p.F395F|PCDH15_uc021pqv.1_Silent_p.F395F|PCDH15_uc021pqw.1_Silent_p.F400F|PCDH15_uc010qht.2_Silent_p.F395F|PCDH15_uc021pqx.1_Silent_p.F395F|PCDH15_uc001jjv.1_Silent_p.F373F|PCDH15_uc021pqy.1_Silent_p.F395F|PCDH15_uc021pqz.1_Silent_p.F373F|PCDH15_uc010qhv.1_Silent_p.F395F|PCDH15_uc010qhw.1_Silent_p.F358F|PCDH15_uc010qhx.1_Silent_p.F395F|PCDH15_uc010qhz.1_Silent_p.F395F|PCDH15_uc010qia.1_Silent_p.F373F|PCDH15_uc001jju.1_Silent_p.F395F|PCDH15_uc010qib.1_Silent_p.F373F|PCDH15_uc001jjw.3_Silent_p.F395F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	395	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGGCATTGTAAAATATGGAC	0.413000										HNSCC(58;0.16)				62			5		0	0	0.000602214	0	0
BBS9	27241	broad.mit.edu	37	7	33423343	33423343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:33423343C>T	uc003tdn.1	+	17	2368	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	BBS9_uc003tdo.1_Missense_Mutation_p.R584C|BBS9_uc003tdp.1_Missense_Mutation_p.R614C|BBS9_uc003tdq.1_Missense_Mutation_p.R579C|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R143C|BBS9_uc003tds.1_Missense_Mutation_p.R42C|BBS9_uc011kao.1_Missense_Mutation_p.R497C	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	619					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R619C(3)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTATTCTTCGCCTTCAAGA	0.333000									Bardet-Biedl syndrome					42			9		0	0	0.000442599	0	0
ARID1B	57492	broad.mit.edu	37	6	157469899	157469899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:157469899G>A	uc003qqp.3	+	7	2654	c.2654G>A	c.(2653-2655)cGa>cAa	p.R885Q	ARID1B_uc003qqo.3_Missense_Mutation_p.R898Q|ARID1B_uc003qqn.3_Missense_Mutation_p.R885Q|ARID1B_uc003qqq.1_Missense_Mutation_p.R269Q	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	885					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCCTGGGACGAATGCCATCA	0.587000														67			16		0	0	0.000958276	0	0
DSCAM	1826	broad.mit.edu	37	21	41385204	41385204	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:41385204C>T	uc002yyq.1	-	32	6248	c.5796G>A	c.(5794-5796)caG>caA	p.Q1932Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1932				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGGCTTTTCTGAGGTTCCA	0.587000														54			12		0	0	0.000308642	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855998	228855998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228855998C>T	uc002vpq.2	-	9	4813	c.4766G>A	c.(4765-4767)aGc>aAc	p.S1589N	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1560N|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1589						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCCTCTGTGCTTTCTGACTG	0.408000														99			9		0	0	0.000442599	0	0
STAT4	6775	broad.mit.edu	37	2	191900938	191900938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:191900938G>A	uc002usm.2	-	16	1837	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	STAT4_uc002usn.2_Missense_Mutation_p.R508C|STAT4_uc010zgk.1_Missense_Mutation_p.R353C|STAT4_uc002uso.2_Missense_Mutation_p.R508C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	508					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTAAGACCACGACCAACGTAC	0.458000														57			12		0	0	0.00185496	0	0
C11orf70	85016	broad.mit.edu	37	11	101953871	101953871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:101953871C>T	uc001pgp.3	+	6	778	c.745C>T	c.(745-747)Cct>Tct	p.P249S	C11orf70_uc001pgq.3_Missense_Mutation_p.P211S	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	249										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TATTGTGGATCCTATCAGGCG	0.338000														184			27		0	0	0.001512	0	0
CUBN	8029	broad.mit.edu	37	10	17085910	17085910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:17085910G>A	uc001ioo.3	-	25	3797	c.3745C>T	c.(3745-3747)Cgt>Tgt	p.R1249C		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1249	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACTAGAACGAATAAGAGGG	0.428000														42			10		0	0	0.000978159	0	0
PLS1	5357	broad.mit.edu	37	3	142423340	142423340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142423340G>A	uc010huv.3	+	13	1700	c.1541G>A	c.(1540-1542)gGt>gAt	p.G514D	PLS1_uc003euz.3_Missense_Mutation_p.G514D|PLS1_uc003eva.3_Missense_Mutation_p.G514D	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	514	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTGGAGAGGGTGAAAAAGTA	0.318000														104			27		0	0	0.000878237	0	0
LOC645752	645752	broad.mit.edu	37	15	78207541	78207541	+	Silent	SNP	T	G	G	rs56259215	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:78207541T>G	uc010bky.2	-	17	2135	c.1371A>C	c.(1369-1371)gtA>gtC	p.V457V	LOC645752_uc010umq.1_Silent_p.V104V|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TGTCCTGCATTACAGGAGACA	0.567000														23			7		0	0	0.000157383	0	0
CCDC83	220047	broad.mit.edu	37	11	85606413	85606413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:85606413G>A	uc001pbg.1	+	5	1101	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CCDC83_uc001pbh.1_Missense_Mutation_p.E197K|CCDC83_uc001pbj.1_Missense_Mutation_p.E98K|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	197										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCAAAAGAAGGAATGGGCCAC	0.284000														116			21		0	0	0.00047179	0	0
TMEM182	130827	broad.mit.edu	37	2	103380863	103380863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:103380863C>T	uc010fjb.3	+	2	495	c.308C>T	c.(307-309)tCg>tTg	p.S103L	TMEM182_uc002tcc.4_Missense_Mutation_p.S60L|TMEM182_uc002tcd.4_Missense_Mutation_p.S7L	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	103						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCACAACTCGACCTCCTAT	0.483000														64			14		0	0	0.00121646	0	0
XDH	7498	broad.mit.edu	37	2	31573083	31573083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:31573083C>T	uc002rnv.1	-	24	2717	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	880					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAAGCTCGTTCCATAATCTGA	0.493000														55			5		0	0	0.000602214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997310	146997310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:146997310G>A	uc003weu.2	+	8	1942	c.1426G>A	c.(1426-1428)Gga>Aga	p.G476R	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	476	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACCATCGATGGAGATGAAGC	0.423000										HNSCC(39;0.1)				77			7		0	0	8.12818e-05	0	0
KLHL1	57626	broad.mit.edu	37	13	70681382	70681382	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:70681382C>T	uc001vip.3	-	0	1244	c.450G>A	c.(448-450)gtG>gtA	p.V150V	KLHL1_uc010thm.2_Silent_p.V150V|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	150					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCTGGCTCCACTTTGAGCT	0.532000														138			12		0	0	0.000978159	0	0
CLCN3	1182	broad.mit.edu	37	4	170601285	170601285	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:170601285T>C	uc003ish.3	+	2	804	c.245T>C	c.(244-246)gTt>gCt	p.V82A	CLCN3_uc003isi.3_Missense_Mutation_p.V82A|CLCN3_uc011cka.2_Missense_Mutation_p.V82A|CLCN3_uc011cjz.2_Missense_Mutation_p.V65A|CLCN3_uc003isj.2_Missense_Mutation_p.V55A	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	82					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATTCCAGGTGTTGGTACATAT	0.348000														87			6		0	0	0.00116845	0	0
WDFY3	23001	broad.mit.edu	37	4	85711007	85711007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:85711007G>A	uc003hpd.3	-	21	3949	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1181						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R1181C(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCGAAAGCGAGCACAGCAT	0.413000														70			7		0	0	0.000157383	0	0
THSD7B	80731	broad.mit.edu	37	2	138169266	138169266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:138169266C>T	uc002tva.1	+	12	2690	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S787F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATTTATATCCCAACCTTAT	0.463000														86			11		0	0	0.00136819	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929461	94929461	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94929461A>T	uc001ydf.3	-	4	1438	c.1277T>A	c.(1276-1278)cTa>cAa	p.L426Q	SERPINA9_uc001yde.3_Missense_Mutation_p.L326Q|SERPINA9_uc010avc.3_Missense_Mutation_p.L277Q|SERPINA9_uc001ydg.3_Missense_Mutation_p.L390Q	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	408					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTTTCCCTAGAAAGAGAAT	0.428000														67			7		0	0	0.000442599	0	0
BCL11A	53335	broad.mit.edu	37	2	60687970	60687970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:60687970C>T	uc002sae.1	-	3	2305	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	BCL11A_uc002sab.3_Missense_Mutation_p.E693K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E362K|BCL11A_uc010ypj.2_Missense_Mutation_p.E659K|BCL11A_uc002sad.1_Missense_Mutation_p.E541K|BCL11A_uc002saf.1_Missense_Mutation_p.E659K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	693					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCCGTTCTCCGAGGAGTGC	0.647000			T	IGH@	B-CLL									171			12		0	0	0.000566183	0	0
UCHL1	7345	broad.mit.edu	37	4	41265263	41265263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:41265263C>T	uc003gvo.3	+	6	577	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	UCHL1_uc003gvp.3_Missense_Mutation_p.H80Y	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	161					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.H161Y(2)|p.F160F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGTGAATTTCCATTTTATTCT	0.333000														122			16		0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179486673	179486673	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179486673C>T	uc021vsy.1	-	192	37497	c.37272G>A	c.(37270-37272)aaG>aaA	p.K12424K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K6119K|TTN_uc021vta.1_Silent_p.K6052K|TTN_uc021vtb.1_Silent_p.K5927K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13351							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A12423A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTGCTCCCTTGGATATGA	0.368000														9			5		0	0	0.00116845	0	0
DCDC5	100506627	broad.mit.edu	37	11	30946900	30946900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:30946900C>T	uc009yjk.1	-	10	1366	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.G92R	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	64					intracellular signal transduction			p.G64R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ATTTCCTTCCCCTTTTCATTG	0.353000														162			28		0	0	0.000409698	0	0
CHST1	8534	broad.mit.edu	37	11	45672010	45672011	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:45672010_45672011CC>TT	uc021qgn.1	-	0	463_464	c.463_464GG>AA	c.(463-465)ggg>AAg	p.G155K	CHST1_uc001mys.2_Missense_Mutation_p.G155K	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	155					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCGGCTGGCCCCGCGGCGGAAG	0.683000														53			12		0	0	6.4e-05	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093287	143093287	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:143093287G>A	uc003qjd.3	-	4	3332	c.2589C>T	c.(2587-2589)ccC>ccT	p.P863P		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGATGGAGAGGGTTTCCCCC	0.572000														44			7		0	0	0.000157383	0	0
MYLK4	340156	broad.mit.edu	37	6	2685801	2685801	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:2685801G>A	uc003mty.4	-	4	648	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	117	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GAACCTGGCCGAAACGCCCTC	0.582000														90			7		0	0	0.000274275	0	0
TBC1D1	23216	broad.mit.edu	37	4	38023281	38023281	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:38023281C>T	uc003gtb.3	+	5	1510	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	TBC1D1_uc011byd.2_Silent_p.A384A|TBC1D1_uc010ifd.3_Silent_p.A131A|TBC1D1_uc011byf.1_Silent_p.A255A	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	384	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGGCGCCAGCCCAGCTGTGTG	0.537000														12			5		0	0	0.000602214	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536637	130536638	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:130536637_130536638GG>AA	uc004bsc.3	-	1	288_289	c.146_147CC>TT	c.(145-147)acc>aTT	p.T49I	SH2D3C_uc004bsb.3_5'Flank|SH2D3C_uc004bsa.3_5'Flank|SH2D3C_uc004bsd.1_5'UTR	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	49					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGCTTCAAAGGTGTCAGGCTC	0.579000														32			9		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	22	22453496	22453496	+	RNA	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:22453496C>A	uc021wml.1	+	6		c.617C>A								Parts of antibodies, mostly variable regions.																		AACACTCGCTCTTCTGGGGTC	0.557000														93			8		0.000442599	0.00228164	0.000442599	1	0
CFB	629	broad.mit.edu	37	6	31901440	31901440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31901440C>T	uc011dor.2	+	2	574	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	CFB_uc003nyc.2_5'UTR|CFB_uc011doo.2_5'UTR|CFB_uc011dop.2_Missense_Mutation_p.R43C|CFB_uc003nye.4_Missense_Mutation_p.R166C|CFB_uc003nyf.3_Missense_Mutation_p.R166C|CFB_uc010jtk.3_Missense_Mutation_p.R34C|CFB_uc011doq.2_Missense_Mutation_p.R137C	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	180	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GACAGGCTTCCGCTTTGGTCA	0.627000														120			33		0	0	0.00170553	0	0
LIX1	167410	broad.mit.edu	37	5	96440917	96440918	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:96440917_96440918CC>TT	uc003kmy.4	-	3	699_700	c.459_460GG>AA	c.(457-462)atgggg>atAAgg	p.153_154MG>IR		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	153										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ATAGTCTTCCCCATGTTTGACT	0.446000														56			7		0	0	6.4e-05	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:156643314G>A	uc003iov.3	+	9	2377	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000														52			5		0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13809289	13809289	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13809289C>T	uc003jfd.2	-	45	7658	c.7616G>A	c.(7615-7617)tGg>tAg	p.W2539*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2539					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGTGCGTCCATGTACCTAA	0.448000									Kartagener syndrome					101			17		0	0	0.00152264	0	0
INPPL1	3636	broad.mit.edu	37	11	71944715	71944715	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:71944715C>T	uc001osf.3	+	18	2286	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	INPPL1_uc001osg.3_Silent_p.I471I	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	713					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGATGACATCGTCACCAGCG	0.552000														66			9		0	0	0.000274275	0	0
CACNA1B	774	broad.mit.edu	37	9	140948323	140948324	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140948323_140948324CC>TT	uc004cog.3	+	25	3978_3979	c.3833_3834CC>TT	c.(3832-3834)tcc>tTT	p.S1278F	CACNA1B_uc022bqn.1_Missense_Mutation_p.S1278F|CACNA1B_uc011mfd.2_Missense_Mutation_p.S879F|CACNA1B_uc004coi.3_Missense_Mutation_p.S492F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1278					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGTGAACTCCCTGAAGAATG	0.515000														163			33		0	0	6.4e-05	0	0
AKAP4	8852	broad.mit.edu	37	X	49958065	49958065	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:49958065G>A	uc004dow.1	-	4	1423	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	AKAP4_uc004dou.1_Silent_p.A424A|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.A255A	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	433					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCTATAAGGGCACTGACCA	0.453000														80			13		0	0	0.00074312	0	0
SYBU	55638	broad.mit.edu	37	8	110631156	110631156	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:110631156C>T	uc010mcp.3	-	3	704	c.342G>A	c.(340-342)aaG>aaA	p.K114K	SYBU_uc003yni.4_Silent_p.K111K|SYBU_uc003ynk.4_5'UTR|SYBU_uc003ynj.4_Silent_p.K114K|SYBU_uc010mco.3_Silent_p.K113K|SYBU_uc003ynl.4_Silent_p.K113K|SYBU_uc010mcq.3_Silent_p.K114K|SYBU_uc003yno.4_5'UTR|SYBU_uc010mcr.3_Silent_p.K114K|SYBU_uc003ynm.4_Silent_p.K113K|SYBU_uc003ynn.4_Silent_p.K113K|SYBU_uc010mcs.3_5'UTR|SYBU_uc010mct.3_Silent_p.K114K|SYBU_uc010mcu.3_Silent_p.K113K|SYBU_uc003ynp.4_Silent_p.K46K|SYBU_uc010mcv.3_Silent_p.K114K	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	114	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCGTGCATTTCTTTCTGGTGA	0.483000														149			26		0	0	0.00106085	0	0
UMODL1	89766	broad.mit.edu	37	21	43510525	43510525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:43510525G>A	uc002zag.1	+	5	908	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	UMODL1_uc002zad.1_Missense_Mutation_p.R231Q|UMODL1_uc002zae.1_Missense_Mutation_p.R231Q|UMODL1_uc002zaf.1_Missense_Mutation_p.R303Q|UMODL1_uc010gow.1_Missense_Mutation_p.R95Q|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Intron	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	303	EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGTCTCCACGGAAGCTGAAC	0.562000														45			7		0	0	0.000157383	0	0
HERC2	8924	broad.mit.edu	37	15	28474724	28474724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:28474724G>A	uc001zbj.3	-	32	5108	c.5002C>T	c.(5002-5004)Cgc>Tgc	p.R1668C		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1668					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTTCCAGGCGAACCTCTGCT	0.388000														99			17		0	0	0.00121646	0	0
IDUA	3425	broad.mit.edu	37	4	998089	998089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:998089G>A	uc003gby.3	+	13	1958	c.1870G>A	c.(1870-1872)Gac>Aac	p.D624N	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Missense_Mutation_p.D646N	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	624					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCGAGCCCTGGACTACTGGGC	0.657000														31			6		0	0	0.000157383	0	0
KCNH6	81033	broad.mit.edu	37	17	61622526	61622526	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:61622526G>A	uc002jay.3	+	12	2672	c.2592G>A	c.(2590-2592)ctG>ctA	p.L864L	KCNH6_uc010wpl.2_Silent_p.L705L|KCNH6_uc010wpm.2_Silent_p.L828L|KCNH6_uc002jaz.1_Silent_p.L775L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	864					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCTACATTCTGGAAGCCCCTG	0.642000														49			8		0	0	0.000274275	0	0
GAD2	2572	broad.mit.edu	37	10	26589885	26589885	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:26589885T>A	uc001isp.2	+	15	2256	c.1753T>A	c.(1753-1755)Tta>Ata	p.L585I	GAD2_uc001isq.2_Missense_Mutation_p.L585I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	585					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGGACAAGATTTATAATAACC	0.398000														69			7		0	0	0.000274275	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642467	122642467	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:122642467G>A	uc003efz.1	-	9	1573	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SEMA5B_uc011bju.1_Silent_p.F365F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.F423F|SEMA5B_uc010hro.1_Silent_p.F365F|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	423	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTGTACCTGGAAATTGGGGA	0.542000														50			8		0	0	0.000274275	0	0
ABCA4	24	broad.mit.edu	37	1	94473802	94473802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:94473802G>A	uc001dqh.3	-	41	5991	c.5887C>T	c.(5887-5889)Cgc>Tgc	p.R1963C	ABCA4_uc001dqi.1_Missense_Mutation_p.R82C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1963	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCCAGGGCGAACTCCGACA	0.547000														53			13		0	0	0.000219431	0	0
MIR520H	574493	broad.mit.edu	37	19	54245784	54245784	+	RNA	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54245784T>C	uc010yeb.2	+	0		c.19T>C								Homo sapiens microRNA 520h (MIR520H), microRNA.																		TGTGACCCTCTAGAGGAAGCA	0.403000														90			11		0	0	0.000673444	0	0
CATSPER3	347732	broad.mit.edu	37	5	134346174	134346174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:134346174G>A	uc003lag.3	+	6	1134	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	350					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCCTTCATCGATATCTACTT	0.512000														59			6		0	0	0.00116845	0	0
IL4R	3566	broad.mit.edu	37	16	27373974	27373974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:27373974C>T	uc002don.3	+	10	1543	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	IL4R_uc002dop.4_Missense_Mutation_p.P419L|IL4R_uc010bxy.3_Missense_Mutation_p.P434L|IL4R_uc002doo.3_Missense_Mutation_p.P274L	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	434					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGCCTTCTTCCACCTTCGGGA	0.617000														33			6		0	0	0.000157383	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079370	38079370	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:38079370G>A	uc002htj.2	-	2	491	c.321C>T	c.(319-321)atC>atT	p.I107I	ORMDL3_uc002hti.1_Non-coding_Transcript|ORMDL3_uc002htk.2_Silent_p.I107I	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Homo sapiens ORM1-like 3 (S. cerevisiae) (ORMDL3), mRNA.	107					ceramide metabolic process	SPOTS complex|integral to membrane	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CTCACAGCACGATGGGTGTGA	0.622000														47			8		0	0	0.000274275	0	0
CASS4	57091	broad.mit.edu	37	20	55027342	55027342	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:55027342G>A	uc002xxp.2	+	5	1335	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	CASS4_uc002xxq.4_Silent_p.K370K|CASS4_uc010zze.1_Silent_p.K316K|CASS4_uc002xxr.2_Silent_p.K370K|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	370					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGAAAGCCAAGGAGGTGTCAG	0.512000														46			6		0	0	0.00116845	0	0
ZNF227	7770	broad.mit.edu	37	19	44739314	44739314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44739314C>T	uc002oyu.3	+	5	936	c.731C>T	c.(730-732)cCc>cTc	p.P244L	ZNF227_uc010xwu.2_Missense_Mutation_p.P193L|ZNF227_uc002oyv.3_Missense_Mutation_p.P244L|ZNF227_uc010xwv.2_Missense_Mutation_p.P193L|ZNF227_uc010xww.2_Missense_Mutation_p.P165L|ZNF227_uc002oyw.3_Missense_Mutation_p.P216L|ZNF227_uc010ejh.3_Missense_Mutation_p.P237L|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAGAAATTACCCTTAGGAGAG	0.428000														37			5		0	0	0.000602214	0	0
MS4A6A	64231	broad.mit.edu	37	11	59943007	59943007	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59943007C>T	uc010rla.2	-	5	974	c.501G>A	c.(499-501)caG>caA	p.Q167Q	MS4A6A_uc001noq.3_Silent_p.Q139Q|MS4A6A_uc009ymv.3_Silent_p.Q139Q|MS4A6A_uc001not.3_Silent_p.Q139Q|MS4A6A_uc010rlb.2_Silent_p.Q94Q	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	139						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTAAGGTGGCCTGTTTGACAG	0.418000														35			5		0	0	0.000602214	0	0
OR10A5	144124	broad.mit.edu	37	11	6867228	6867228	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6867228C>T	uc001met.1	+	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTATTTCTTCTTCTTCTTTG	0.517000														69			16		0	0	0.00152264	0	0
SPTA1	6708	broad.mit.edu	37	1	158651329	158651329	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158651329C>T	uc001fst.1	-	3	718	c.519G>A	c.(517-519)tgG>tgA	p.W173*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	173					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTCTCCAATCCACTCTAAGA	0.522000														96			6		0	0	8.12818e-05	0	0
PSME2	5721	broad.mit.edu	37	14	24613646	24613646	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:24613646T>C	uc001wmj.3	-	6	457	c.392A>G	c.(391-393)aAg>aGg	p.K131R	FAM158A_uc001wmi.3_5'Flank|RNF31_uc001wml.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	131					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		ATCTTCAATCTTGGGGATCAG	0.423000														64			4		0	0	8.12818e-05	0	0
MLL3	58508	broad.mit.edu	37	7	151873959	151873959	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:151873959G>T	uc003wla.3	-	37	8798	c.8579C>A	c.(8578-8580)tCa>tAa	p.S2860*	MLL3_uc003wkz.3_Nonsense_Mutation_p.S1921*|MLL3_uc003wky.3_Nonsense_Mutation_p.S369*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2860					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTTAGGTCTGAGTGAGCAGA	0.403000			N		medulloblastoma									162			8		0.000157383	0.000813694	0.000157383	1	0
FGA	2243	broad.mit.edu	37	4	155505422	155505422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:155505422C>T	uc003iod.1	-	5	2513	c.2455G>A	c.(2455-2457)Gga>Aga	p.G819R		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	819	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAGTAGATTCCATTGAGATTG	0.493000														77			7		0	0	0.000274275	0	0
CREB1	1385	broad.mit.edu	37	2	208440042	208440042	+	Silent	SNP	C	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:208440042C>A	uc002vcc.3	+	6	845	c.594C>A	c.(592-594)acC>acA	p.T198T	CREB1_uc010ziz.1_Silent_p.T182T|CREB1_uc002vcd.3_Silent_p.T184T|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	198					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAATGGTACCGATGGGGTAC	0.448000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""									76			5		0.00116845	0.00599602	0.00116845	1	0
KLHL22	84861	broad.mit.edu	37	22	20819207	20819207	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:20819207G>A	uc002zsl.2	-	3	1207	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	KLHL22_uc011ahr.2_Silent_p.F207F	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	350					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGTATACGAAGTTGTTGA	0.552000														87			12		0	0	0.00185496	0	0
SENP2	59343	broad.mit.edu	37	3	185327034	185327035	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:185327034_185327035GG>TT	uc003fpn.3	+	7	790	c.619_splice	c.e7-1	p.G207_splice	SENP2_uc011brv.2_Splice_Site_p.G197_splice|SENP2_uc011brw.2_Splice_Site_p.G20_splice	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	207					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTTTATTTAGGGTGTTCAAAA	0.337000														310			10		0	0	6.4e-05	0	0
PLCH1	23007	broad.mit.edu	37	3	155200482	155200482	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:155200482C>T	uc021xge.1	-	22	3634	c.3357G>A	c.(3355-3357)ggG>ggA	p.G1119G	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.G1081G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1119					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATGCTTTTCCCTTCCACAA	0.458000														72			8		0	0	0.000274275	0	0
GRM8	2918	broad.mit.edu	37	7	126883142	126883142	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:126883142G>A	uc003vlr.2	-	0	428	c.117C>T	c.(115-117)tcC>tcT	p.S39S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.S39S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	39					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCACCCGTATGGAATGGGCAT	0.532000										HNSCC(24;0.065)				56			9		0	0	0.000673444	0	0
CA3	761	broad.mit.edu	37	8	86356323	86356323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:86356323G>A	uc003ydj.3	+	3	495	c.412G>A	c.(412-414)Gat>Aat	p.D138N	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	138					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.D138Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGCAGCGCGATGGGATCGC	0.383000														62			7		0	0	0.000157383	0	0
HIPK4	147746	broad.mit.edu	37	19	40889916	40889916	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40889916C>T	uc002onp.3	-	1	881	c.596G>A	c.(595-597)tGg>tAg	p.W199*		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	199	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCCCAGGGACCACACGTCCAC	0.642000														37			5		0	0	0.00116845	0	0
INMT	11185	broad.mit.edu	37	7	30795141	30795141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:30795141C>T	uc003tbs.1	+	2	482	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.L155F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	156						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGTGTTGCCTCTCGCCGACTG	0.652000														30			5		0	0	8.12818e-05	0	0
AKAP3	10566	broad.mit.edu	37	12	4737087	4737087	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:4737087T>G	uc001qnb.4	-	3	1225	c.981A>C	c.(979-981)aaA>aaC	p.K327N		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	327					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGACCACCTCTTTTGCATGCT	0.478000														32			6		0	0	8.12818e-05	0	0
NOS3	4846	broad.mit.edu	37	7	150695451	150695451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150695451G>A	uc003wif.3	+	5	885	c.589G>A	c.(589-591)Gat>Aat	p.D197N	NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Missense_Mutation_p.D197N|NOS3_uc011kuz.2_Missense_Mutation_p.D197N|NOS3_uc011kvb.2_Missense_Mutation_p.D197N	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	197	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCAGGTGTTCGATGCCCGGGA	0.617000														27			6		0	0	0.000442599	0	0
ATL1	51062	broad.mit.edu	37	14	51087425	51087425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:51087425G>A	uc021rsw.1	+	8	1212	c.971G>A	c.(970-972)gGt>gAt	p.G324D	ATL1_uc001wyd.4_Missense_Mutation_p.G324D|ATL1_uc001wyf.4_Missense_Mutation_p.G324D|ATL1_uc001wye.4_Missense_Mutation_p.G324D|ATL1_uc021rsx.1_Missense_Mutation_p.G324D	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	324					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						ACCTGCCGGGGTCTGGTGGAG	0.368000														59			12		0	0	0.000219431	0	0
TRIM60	166655	broad.mit.edu	37	4	165961679	165961679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:165961679G>A	uc003iqy.1	+	2	625	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TRIM60_uc010iqx.1_Missense_Mutation_p.R152K|TRIM60_uc021xty.1_Missense_Mutation_p.R152K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	152						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAGCCCTTGAGGAATAATATA	0.383000														55			6		0	0	8.12818e-05	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229547	38229547	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:38229547G>A	uc001zjw.3	+	4	367	c.265_splice	c.e4-1	p.E89_splice	TMCO5A_uc001zjv.1_Splice_Site_p.E89_splice|TMCO5A_uc010bbc.1_Splice_Site_p.E89_splice	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	89						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TCTCTCACAGGAAAGGAAGAA	0.438000														33			6		0	0	0.000274275	0	0
CLDN16	10686	broad.mit.edu	37	3	190120219	190120219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:190120219G>A	uc003fsi.3	+	1	666	c.418G>A	c.(418-420)Gag>Aag	p.E140K	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	140					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CATACTTGCGGAGCATCCCTG	0.478000														65			6		0	0	0.000274275	0	0
C3orf56	285311	broad.mit.edu	37	3	126915912	126915912	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:126915912T>C	uc003eji.1	+	1	624	c.384T>C	c.(382-384)ttT>ttC	p.F128F						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCAACCTATTTCCTTTCCCCA	0.607000														127			15		0	0	0.000958276	0	0
SETX	23064	broad.mit.edu	37	9	135201882	135201882	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:135201882G>A	uc004cbk.3	-	9	5286	c.5103C>T	c.(5101-5103)ttC>ttT	p.F1701F	SETX_uc004cbj.3_Silent_p.F1320F|SETX_uc010mzt.3_Silent_p.F1320F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1701					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCTCTTTAACGAAGGTGTCAG	0.418000														43			10		0	0	0.000978159	0	0
CT45A5	441521	broad.mit.edu	37	X	134948038	134948038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:134948038C>T	uc004eze.3	-	2	532	c.287G>A	c.(286-288)gGa>gAa	p.G96E	CT45A5_uc022ces.1_Missense_Mutation_p.G96E|CT45A5_uc011mvu.2_Missense_Mutation_p.G96E	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	96										endometrium(1)|large_intestine(2)|lung(6)	9						GGTAACATTTCCTCCCACAGG	0.433000														123			28		0	0	0.000814825	0	0
ITGA5	3678	broad.mit.edu	37	12	54797454	54797454	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:54797454C>T	uc001sga.3	-	16	1799	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	577					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAGCCCCATTCTGGATGAGCA	0.617000														47			16		0	0	0.00121646	0	0
ABCC1	4363	broad.mit.edu	37	16	16130356	16130356	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:16130356C>T	uc010bvi.3	+	6	880	c.705C>T	c.(703-705)ccC>ccT	p.P235P	ABCC1_uc010bvj.3_Silent_p.P235P|ABCC1_uc010bvk.3_Silent_p.P235P|ABCC1_uc010bvl.3_Silent_p.P235P|ABCC1_uc010bvm.3_Silent_p.P235P|ABCC1_uc002del.4_Silent_p.P119P|ABCC1_uc010bvn.3_Silent_p.P98P	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	235					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCGCCAGCCCCTGGAGGGCA	0.567000														37			9		0	0	0.000274275	0	0
DNAH10	196385	broad.mit.edu	37	12	124265846	124265846	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:124265846G>A	uc001uft.4	+	6	683	c.658_splice	c.e6+1	p.G220_splice		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	220	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G38S(1)|p.G220S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAACTTGAAGGTAAGGTTTC	0.353000														65			8		0	0	0.000442599	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92531727C>T	uc001pdj.4	+	8	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)				251			24		0	0	0.00127121	0	0
GJA4	2701	broad.mit.edu	37	1	35260797	35260797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:35260797C>T	uc009vul.3	+	1	1235	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F	GJA4_uc001bya.3_Missense_Mutation_p.S328F|GJA4_uc009vum.1_Missense_Mutation_p.S328F|GJA4_uc021olb.1_Missense_Mutation_p.S328F	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	328					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCTCTGCTTCTAAGAAGCAG	0.602000														43			6		0	0	0.000274275	0	0
C14orf133	63894	broad.mit.edu	37	14	77915670	77915670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77915670G>A	uc001xtt.2	-	6	830	c.413C>T	c.(412-414)gCt>gTt	p.A138V	C14orf133_uc001xtu.2_Missense_Mutation_p.A138V|C14orf133_uc001xtv.2_Missense_Mutation_p.A138V|C14orf133_uc021rwu.1_Missense_Mutation_p.A138V|C14orf133_uc010tvj.2_Missense_Mutation_p.A89V	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	138					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGCTCTGGAGCATAGCTTTT	0.473000														66			8		0	0	0.000442599	0	0
ZBP1	81030	broad.mit.edu	37	20	56191463	56191463	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:56191463G>A	uc002xyo.3	-	1	377	c.96C>T	c.(94-96)gcC>gcT	p.A32A	ZBP1_uc010gjm.3_Silent_p.A32A|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Silent_p.A32A	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	32						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCACCAGCTGGGCAAGTTTCA	0.577000														68			11		0	0	0.000219431	0	0
RRAGC	64121	broad.mit.edu	37	1	39322615	39322616	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:39322615_39322616GG>TT	uc001ccq.2	-	1	398_399	c.376_377CC>AA	c.(376-378)cca>AAa	p.P126K	RRAGC_uc010oim.1_Missense_Mutation_p.P92K|RRAGC_uc001ccr.2_Missense_Mutation_p.P48K	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Homo sapiens Ras-related GTP binding C (RRAGC), mRNA.	126					RNA splicing|apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	p.D125Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GTCAAAGGTTGGGTCAAAAAAG	0.406000														155			9		0	0	6.4e-05	0	0
RIT2	6014	broad.mit.edu	37	18	40695397	40695397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:40695397C>T	uc002lav.3	-	0	261	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RIT2_uc010dnf.3_Missense_Mutation_p.G30R	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	30					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTACCAACTCCCCCTGCTCCC	0.507000														54			6		0	0	0.000442599	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827477	43827477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43827477G>A	uc001zrw.3	-	30	3901	c.3697C>T	c.(3697-3699)Ctt>Ttt	p.L1233F	PPIP5K1_uc021sjw.1_Missense_Mutation_p.L1208F|PPIP5K1_uc001zrx.2_Missense_Mutation_p.L1206F|PPIP5K1_uc001zry.4_Missense_Mutation_p.L1208F|PPIP5K1_uc021sjx.1_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1233					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GGTTCAAAAAGCTCTTGCTCC	0.557000														92			12		0	0	0.00136819	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545857	112545857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:112545857G>A	uc003dzi.1	-	3	888	c.662C>T	c.(661-663)tCc>tTc	p.S221F	CD200R1L_uc010hqf.1_Missense_Mutation_p.S200F|CD200R1L_uc011bhw.1_Missense_Mutation_p.S200F	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	221	Ig-like C2-type.					integral to membrane	receptor activity	p.S221T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CAACTTTACGGACAGACTCTT	0.458000														52			5		0	0	0.000602214	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997862	157997862	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:157997862C>T	uc003wno.3	-	4	501	c.380_splice	c.e4+1	p.R127_splice	PTPRN2_uc003wnp.3_Splice_Site_p.R110_splice|PTPRN2_uc003wnq.3_Splice_Site_p.R127_splice|PTPRN2_uc003wnr.3_Splice_Site_p.R89_splice|PTPRN2_uc011kwa.2_Splice_Site_p.R150_splice	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	127						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCACACTTACCTGGCTGGGC	0.483000														61			12		0	0	0.00136819	0	0
RELN	5649	broad.mit.edu	37	7	103206802	103206802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:103206802G>A	uc022ajr.1	-	32	4965	c.4805C>T	c.(4804-4806)tCt>tTt	p.S1602F	RELN_uc022ajq.1_Missense_Mutation_p.S1602F|RELN_uc010liz.3_Missense_Mutation_p.S1602F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1602					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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGTTTGAGAGCTGTCATT	0.403000														39			12		0	0	0.00136819	0	0
OR9G4	283189	broad.mit.edu	37	11	56511147	56511147	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56511147C>T	uc010rjo.2	-	0	141	c.141G>A	c.(139-141)ctG>ctA	p.L47L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AATAGAGCATCAGAAACACTC	0.423000														32			5		0	0	0.000602214	0	0
FCGBP	8857	broad.mit.edu	37	19	40399431	40399431	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40399431G>A	uc002omp.4	-	12	6272	c.6264C>T	c.(6262-6264)ttC>ttT	p.F2088F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2088	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTGGAAATTGAATCGGTGCC	0.632000														36			14		0	0	0.000219431	0	0
C9orf131	138724	broad.mit.edu	37	9	35045503	35045503	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:35045503G>A	uc003zvw.3	+	1	2906	c.2877G>A	c.(2875-2877)ggG>ggA	p.G959G	C9orf131_uc003zvu.3_Silent_p.G911G|C9orf131_uc003zvv.3_Silent_p.G886G|C9orf131_uc003zvx.3_Silent_p.G924G	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	959										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATAGAAGAGGGACTGCAAGGT	0.537000														57			6		0	0	8.12818e-05	0	0
TMEM214	54867	broad.mit.edu	37	2	27262685	27262685	+	Silent	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:27262685C>T	uc002ria.4	+	13	1712	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	TMEM214_uc002rib.4_Silent_p.S489S	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	534						integral to membrane	protein binding	p.S534S(2)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGCTCTACTCCTACAGTCTGC	0.587000														101			10		0	0	0.000673444	0	0
AFAP1	60312	broad.mit.edu	37	4	7820863	7820863	+	Silent	SNP	G	A	A	rs115125282	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:7820863G>A	uc011bwk.1	-	6	1035	c.762C>T	c.(760-762)ccC>ccT	p.P254P	AFAP1_uc003gkg.1_Silent_p.P254P	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	254						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTGAATCCACGGGGCCACTAC	0.527000														45			8		0	0	0.000978159	0	0
KIAA1524	57650	broad.mit.edu	37	3	108301837	108301837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108301837G>A	uc003dxb.4	-	2	613	c.344C>T	c.(343-345)tCg>tTg	p.S115L	KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_5'UTR	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	115						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAAACACCGAATCAGTGTG	0.418000														30			7		0	0	0.000157383	0	0
INTS8	55656	broad.mit.edu	37	8	95862268	95862269	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:95862268_95862269CC>AA	uc003yhb.3	+	11	1582_1583	c.1456_1457CC>AA	c.(1456-1458)cct>AAt	p.P486N	INTS8_uc003yha.1_Missense_Mutation_p.P486N|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P313N	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	486					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GAAGAGATCCCCTAGAGTAAAT	0.391000														404			15		0	0	6.4e-05	0	0
COLEC12	81035	broad.mit.edu	37	18	335059	335059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:335059C>T	uc002kkm.3	-	5	1714	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	500	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCTTTAGATCCTTTGCCGCC	0.701000														35			9		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736083	140736083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140736083C>T	uc003ljq.2	+	0	1316	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.S439L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	441	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCATATTTCACTGCAAGTG	0.463000														52			9		0	0	0.000442599	0	0
OR51T1	401665	broad.mit.edu	37	11	4903161	4903161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4903161C>T	uc010qyp.2	+	0	113	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCGTCTTCCTCAAACTTC	0.413000														51			6		0	0	0.00116845	0	0
TRIB1	10221	broad.mit.edu	37	8	126445691	126445692	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:126445691_126445692GG>TT	uc003yrx.3	+	1	1075_1076	c.493_494GG>TT	c.(493-495)ggg>TTg	p.G165L	TRIB1_uc011lis.2_5'UTR|TRIB1_uc010mdn.3_5'Flank|TRIB1_uc022bay.1_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	165	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAAGGACTTTGGGGACATGCAC	0.569000														432			11		0	0	6.4e-05	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454471	84454471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:84454471C>T	uc001vlk.3	-	0	2058	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCGATTTTCGGATGCTGTG	0.448000														130			17		0	0	0.000566183	0	0
DGUOK	1716	broad.mit.edu	37	2	74177794	74177794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74177794C>T	uc002sjx.3	+	3	611	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	176					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GCATTCTTTTCTCCTGTGGGA	0.468000														209			17		0	0	0.00188189	0	0
BSCL2	26580	broad.mit.edu	37	11	62474646	62474647	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:62474646_62474647GG>AA	uc001nut.4	-	1	623_624	c.21_22CC>TT	c.(19-24)gaccaa>gaTTaa	p.Q8*	BSCL2_uc001nup.3_5'Flank|BSCL2_uc009yoc.2_5'Flank|BSCL2_uc001nur.4_Nonsense_Mutation_p.Q8*|BSCL2_uc009yod.3_Nonsense_Mutation_p.Q8*|HNRNPUL2_uc001nuu.2_Non-coding_Transcript|GNG3_uc001nuv.3_5'Flank	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	332					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TCCTCCTTTTGGTCTACCTTTT	0.515000														315			65		0	0	6.4e-05	0	0
SCN11A	11280	broad.mit.edu	37	3	38888300	38888300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38888300C>T	uc021wvy.1	-	25	5460	c.5261G>A	c.(5260-5262)gGt>gAt	p.G1754D		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1754					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	accttggtcacccttggtcac	0.478000														63			8		0	0	0.000274275	0	0
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:2873557C>T	uc002lwp.1	+	1	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_uc002lwq.3_Missense_Mutation_p.P23S	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCTGAATCCTGCTCAGAG	0.463000														79			15		0	0	0.000422831	0	0
TNXB	7148	broad.mit.edu	37	6	32017983	32017983	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32017983G>A	uc003nzl.2	-	26	9427	c.9225C>T	c.(9223-9225)agC>agT	p.S3075S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3122	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCAGGACAGGCTGAGGGAGT	0.667000														285			31		0	0	0.000491102	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140188444G>A	uc003lhi.2	+	0	1773	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E558K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E558K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000														54			14		0	0	0.000566183	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418922	138418922	+	Silent	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138418922G>A	uc003vuf.3	-	14	1888	c.1650C>T	c.(1648-1650)gtC>gtT	p.V550V	ATP6V0A4_uc003vug.3_Silent_p.V550V|ATP6V0A4_uc003vuh.3_Silent_p.V550V	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	550					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAACCATCTGGACAATTCCCA	0.423000														74			6		0	0	8.12818e-05	0	0
EMR3	84658	broad.mit.edu	37	19	14752245	14752245	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14752245G>A	uc002mzi.4	-	9	1382	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	EMR3_uc010dzp.3_Nonsense_Mutation_p.R360*|EMR3_uc010xnv.2_Nonsense_Mutation_p.R286*	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	412					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.D411>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGTTCAGTTCGATCAATCCCC	0.532000														48			7		0	0	8.12818e-05	0	0
VAPB	9217	broad.mit.edu	37	20	57009663	57009663	+	Silent	SNP	T	C	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57009663T>C	uc002xza.3	+	2	558	c.217T>C	c.(217-219)Tta>Cta	p.L73L	VAPB_uc010zzo.2_Intron|VAPB_uc002xzd.2_Intron|VAPB_uc002xzb.3_Intron	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	73	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CTCAGTGATGTTACAGCCTTT	0.363000														57			11		0	0	0.000673444	0	0
SIK1	150094	broad.mit.edu	37	21	44838334	44838334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:44838334G>A	uc002zdf.2	-	11	1677	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	517					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GAGCCCCGCGGGGCTTTTGCT	0.687000														9			7		0	0	8.12818e-05	0	0
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:109087883_109087884insA	uc002tec.3	+	5	2252_2253	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													---	371	---	---	8	---					
EPHA5	2044	broad.mit.edu	37	4	66286237	66286238	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:66286237_66286238insT	uc003hcy.3	-	5	1641_1642	c.1448_1449insA	c.(1447-1449)aacfs	p.N483fs	EPHA5_uc003hcx.3_Frame_Shift_Ins_p.N414fs|EPHA5_uc003hcz.3_Frame_Shift_Ins_p.N483fs|EPHA5_uc011cah.2_Frame_Shift_Ins_p.N483fs|EPHA5_uc011cai.2_Frame_Shift_Ins_p.N483fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.N483fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	483	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.N483S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGAGATGCTGTTTTTTGCAAT	0.347										TSP Lung(17;0.13)			---	73	---	---	18	---					
MAP3K5	4217	broad.mit.edu	37	6	137018478	137018478	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:137018478delT	uc003qhc.3	-	4	1215	c.854delA	c.(853-855)aatfs	p.N285fs	MAP3K5_uc011edk.1_Frame_Shift_Del_p.N130fs|MAP3K5_uc010kgw.1_Frame_Shift_Del_p.N285fs	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	285					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGTATAAATTACGAGCTTT	0.373													---	99	---	---	22	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:139097330delA	uc003qie.3	+	1	498	c.343delA	c.(343-345)aaafs	p.K115fs	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	115								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													---	104	---	---	9	---					
TRIM68	55128	broad.mit.edu	37	11	4626492	4626492	+	Frame_Shift_Del	DEL	T	-	-	rs35257042		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4626492delT	uc001lzf.2	-	1	533	c.243delA	c.(241-243)aaafs	p.K81fs	TRIM68_uc010qyj.2_Intron|TRIM68_uc009yek.2_Frame_Shift_Del_p.K81fs	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	81					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAGACGGACTTTTTCTACAA	0.537													---	126	---	---	8	---					
NIN	51199	broad.mit.edu	37	14	51210980	51210980	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:51210980delA	uc001wyi.3	-	22	5359	c.5168delT	c.(5167-5169)ttafs	p.L1723fs	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Frame_Shift_Del_p.L1723fs|NIN_uc001wyk.3_Frame_Shift_Del_p.L1010fs|NIN_uc001wyo.3_Frame_Shift_Del_p.L1723fs	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1723					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACAGCTATTTAATTCCTCACT	0.403			T	PDGFRB	MPD								---	142	---	---	14	---					
ZNF229	7772	broad.mit.edu	37	19	44934670	44934670	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44934670delT	uc002oze.1	-	5	720	c.286delA	c.(286-288)aggfs	p.R96fs	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Frame_Shift_Del_p.R90fs	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GAAAAGAACCTTAATTCTTCA	0.413													---	66	---	---	9	---					
MGAT3	4248	broad.mit.edu	37	22	39883513	39883513	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:39883513delC	uc003axv.4	+	1	400	c.161delC	c.(160-162)gccfs	p.A54fs	MGAT3_uc010gxy.3_Frame_Shift_Del_p.A54fs	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	54	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGAACAATGCCCCGGTCACG	0.647													---	120	---	---	14	---					
C22orf26	55267	broad.mit.edu	37	22	46449723	46449723	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46449723delA	uc003bgq.1	-	0	302	c.251delT	c.(250-252)ttgfs	p.L84fs	MIRLET7BHG_uc011aqw.2_5'Flank|MIRLET7BHG_uc003bgr.4_5'Flank	NM_018280	NP_060750	Q9NV39	CV026_HUMAN	Homo sapiens chromosome 22 open reading frame 26 (C22orf26), mRNA.	84	Pro-rich.												Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGTGGGGCAAACGCGGAGC	0.751													---	4	---	---	2	---