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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADAM23	8745	broad.mit.edu	37	2	207459597	207459597	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:207459597G>A	ENST00000264377.3	+	23	2543	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	ADAM23_ENST00000374416.1_Missense_Mutation_p.D739N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D739N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	739	EGF-like.				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)		CTGTCCACTCGATTCCAAGGG	0.483000													14	15					0	0	0.001855	0	0
AMER1	139285	broad.mit.edu	37	X	63410535	63410535	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:63410535G>A	ENST00000330258.3	-	2	2904	c.2632C>T	c.(2632-2634)Ctg>Ttg	p.L878L	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CGAGGGTGCAGGCCAGGCAGT	0.567000													16	31					0	0	0.003163	0	0
ABCC9	10060	broad.mit.edu	37	12	21991094	21991094	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:21991094C>T	ENST00000261200.4	-	28	3483	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.E1126K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E1162K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1162	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)	TCGTCAAGTTCCTGGAGGTCC	0.433000													19	18					0	0	0.007413	0	0
CLEC18A	348174	broad.mit.edu	37	16	69988295	69988295	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:69988295C>T	ENST00000288040.6	+	3	462	c.275C>T	c.(274-276)cCa>cTa	p.P92L	CLEC18A_ENST00000568461.1_Missense_Mutation_p.P92L|CLEC18A_ENST00000393701.2_Missense_Mutation_p.P92L|CLEC18A_ENST00000449317.2_Missense_Mutation_p.P92L	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	92	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						TGTGGAACCCCAACCCCGAGC	0.647000													7	50					0	0	0.002450	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047399	75047399	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:75047399C>T	ENST00000343932.4	+	7	1584	c.1521C>T	c.(1519-1521)gtC>gtT	p.V507V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	507					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GTGAACATGTCCAGGCGCGGC	0.622000													25	30					0	0	0.006320	0	0
UBE4A	9354	broad.mit.edu	37	11	118239494	118239494	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:118239494G>A	ENST00000252108.3	+	3	401	c.270G>A	c.(268-270)agG>agA	p.R90R	UBE4A_ENST00000431736.2_Silent_p.R90R	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	90					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGATCCAAAGGATCTTCCTTA	0.433000													29	54					0	0	0.005443	0	0
OGN	4969	broad.mit.edu	37	9	95165623	95165623	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:95165623T>C	ENST00000262551.4	-	2	487	c.67A>G	c.(67-69)Acc>Gcc	p.T23A	OGN_ENST00000375561.5_Missense_Mutation_p.T23A|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TCCTGCTGGGTTGGTGGTGCT	0.383000													4	19					0	0	0.000248	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:29533315C>T	ENST00000358273.4	+	12	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R440*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R440*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	440					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.R440*(3)|p.R440>?(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			38	4					0	0	0.005524	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:228886515C>T	ENST00000392056.3	-	6	655	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_ENST00000344657.5_Silent_p.T203T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	203						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)		AGGAACAGTTCGTGTCATCCT	0.463000													14	11					0	0	0.003163	0	0
FMO1	2326	broad.mit.edu	37	1	171227356	171227356	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:171227356A>C	ENST00000354841.4	+	1	261	c.130A>C	c.(130-132)Acc>Ccc	p.T44P	FMO1_ENST00000402921.2_Missense_Mutation_p.T44P|FMO1_ENST00000367750.3_Missense_Mutation_p.T44P|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	44					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			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)					GTGGAGATTCACCGTAAGTGG	0.527000													39	63					0	0	0.002522	0	0
MUC17	140453	broad.mit.edu	37	7	100676391	100676391	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100676391C>T	ENST00000306151.4	+	3	1758	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	565	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)					ACCTCAACTCCTAGTGAAGGA	0.498000													105	157					0	0	0.003610	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795479	142795479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:142795479G>A	ENST00000370498.1	-	2	952	c.199C>T	c.(199-201)Caa>Taa	p.Q67*		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	67										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCAGTTGATTTGAATTT	0.438000													61	77					0	0	0.003610	0	0
C17orf53	78995	broad.mit.edu	37	17	42225491	42225491	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:42225491C>T	ENST00000319977.4	+	3	557	c.320C>T	c.(319-321)tCc>tTc	p.S107F	C17orf53_ENST00000245382.6_Missense_Mutation_p.S107F|C17orf53_ENST00000585683.1_Missense_Mutation_p.S107F	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	107										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCTCTACTTCCAGCAGCTGG	0.567000													90	7					0	0	0.003610	0	0
SPATA2	9825	broad.mit.edu	37	20	48524859	48524859	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:48524859G>A	ENST00000422556.1	-	2	518	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.P57S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	57					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGATAAAAGGGATCCACCTTG	0.617000													26	50					0	0	0.005443	0	0
NR1I3	9970	broad.mit.edu	37	1	161199554	161199554	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:161199554C>T	ENST00000428574.2	-	9	1034	c.941G>A	c.(940-942)gGa>gAa	p.G314E	NR1I3_ENST00000367982.4_3'UTR|NR1I3_ENST00000442691.2_Missense_Mutation_p.G313E|NR1I3_ENST00000367981.3_3'UTR|NR1I3_ENST00000367983.4_3'UTR|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367980.2_3'UTR|NR1I3_ENST00000515621.1_3'UTR|NR1I3_ENST00000412844.2_Missense_Mutation_p.G289E|NR1I3_ENST00000512372.1_Missense_Mutation_p.G241E|NR1I3_ENST00000511944.1_3'UTR|NR1I3_ENST00000511676.1_3'UTR|NR1I3_ENST00000511748.1_3'UTR|TOMM40L_ENST00000367987.1_3'UTR|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000508740.1_Missense_Mutation_p.G285E|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000505005.1_Missense_Mutation_p.G270E|NR1I3_ENST00000504010.1_3'UTR|NR1I3_ENST00000437437.2_Missense_Mutation_p.G280E|NR1I3_ENST00000502985.1_3'UTR			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAGGGTGTTCCAGGTGAGCT	0.547000													26	30					0	0	0.005443	0	0
FARP2	9855	broad.mit.edu	37	2	242396209	242396209	+	Missense_Mutation	SNP	C	C	T	rs145630778	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:242396209C>T	ENST00000264042.3	+	14	1629	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	FARP2_ENST00000373287.4_Missense_Mutation_p.P487S|FARP2_ENST00000545004.1_Missense_Mutation_p.P487S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	487	Pro-rich.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCGGAAGAGCCCCCTGAGTCT	0.617000													48	64					0	0	0.003610	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071462	41071462	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:41071462G>A	ENST00000352632.3	+	28	6135	c.6049G>A	c.(6049-6051)Gat>Aat	p.D2017N	SPTBN4_ENST00000392025.1_Missense_Mutation_p.D760N|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D2017N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D2017N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2017					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCATGGCTGATGAGGTGGG	0.657000													7	15					0	0	0.001984	0	0
COL14A1	7373	broad.mit.edu	37	8	121381693	121381693	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:121381693C>T	ENST00000297848.3	+	47	5550	c.5280C>T	c.(5278-5280)gaC>gaT	p.D1760D	COL14A1_ENST00000309791.4_Silent_p.D1760D|COL14A1_ENST00000247781.3_Silent_p.D1665D	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1760	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATATTGTGACCCCTCATCAT	0.552000													14	41					0	0	0.001855	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:5154998C>T	ENST00000252321.3	+	1	1914	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	562						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGGGGATCCTTCTGCAAG	0.642000													16	29					0	0	0.007413	0	0
DRD2	1813	broad.mit.edu	37	11	113286265	113286265	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:113286265G>A	ENST00000362072.3	-	5	945	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	DRD2_ENST00000544518.1_Missense_Mutation_p.P200S|DRD2_ENST00000355319.2_Missense_Mutation_p.P201S|DRD2_ENST00000538967.1_Missense_Mutation_p.P201S|DRD2_ENST00000346454.3_Missense_Mutation_p.P201S|DRD2_ENST00000542968.1_Missense_Mutation_p.P201S|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	201					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)	ACAATGAAGGGCACGTAGAAG	0.597000													34	31					0	0	0.002445	0	0
LY86	9450	broad.mit.edu	37	6	6588994	6588994	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:6588994C>T	ENST00000379953.2	+	2	379	c.27C>T	c.(25-27)ttC>ttT	p.F9F	LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Silent_p.F9F			O95711	LY86_HUMAN	lymphocyte antigen 86	9					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CCACTCTCTTCCTCTGGACTC	0.542000													39	23					0	0	0.007835	0	0
REV1	51455	broad.mit.edu	37	2	100040690	100040690	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:100040690G>A	ENST00000258428.3	-	10	1828	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P533S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	534	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAGATTAGGACATAGTTGT	0.373000								Direct reversal of damage					7	5					0	0	0.001984	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095556	107095556	+	RNA	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:107095556T>C	ENST00000390630.2	-	0	106																											ACCACAGGTGTTTCATGTTCT	0.532000													3	69					0	0	0.001984	0	0
BRD1	23774	broad.mit.edu	37	22	50217002	50217002	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:50217002G>A	ENST00000216267.8	-	1	1450	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	BRD1_ENST00000457780.2_Missense_Mutation_p.R322W|BRD1_ENST00000404034.1_Missense_Mutation_p.R322W|BRD1_ENST00000404760.1_Missense_Mutation_p.R322W	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	322					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTTTCCACCGGGCTGGAGGG	0.582000													51	60					0	0	0.003610	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149625	203149625	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:203149625C>T	ENST00000255409.3	-	8	992	c.867G>A	c.(865-867)aaG>aaA	p.K289K		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	289					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TCCCTGCCTCCTTGGTGAACC	0.597000													20	32					0	0	0.001882	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			56	68					0	0	0.003610	0	0
MTBP	27085	broad.mit.edu	37	8	121502729	121502729	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:121502729C>T	ENST00000305949.1	+	13	1411	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	456					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)			ATTATCACTTCCACATTTTTC	0.348000													7	7					0	0	0.001984	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650533	232650533	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:232650533C>T	ENST00000366630.1	-	2	911	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G185R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	185					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGGGCAGCCCCGGTGTTGGGG	0.483000													26	42					0	0	0.005443	0	0
LGALS12	85329	broad.mit.edu	37	11	63283841	63283841	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:63283841C>T	ENST00000415491.2	+	8	1418	c.804C>T	c.(802-804)gtC>gtT	p.V268V	LGALS12_ENST00000425950.2_Silent_p.V259V|LGALS12_ENST00000394618.3_Silent_p.V329V|LGALS12_ENST00000340246.5_Silent_p.V330V|LGALS12_ENST00000255684.5_Silent_p.V320V	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	329	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTGGAAGTGTCCAGCTCTACT	0.622000													22	20					0	0	0.002780	0	0
SOGA2	23255	broad.mit.edu	37	18	8784733	8784733	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:8784733C>T	ENST00000359865.3	+	6	1765	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	SOGA2_ENST00000306329.11_Silent_p.S901S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.S541S|SOGA2_ENST00000517570.1_Silent_p.S541S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	892																	ATGGCCTATCCCCCTTGCCCC	0.617000													93	51					0	0	0.003610	0	0
KCND3	3752	broad.mit.edu	37	1	112318829	112318829	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:112318829G>A	ENST00000369697.1	-	6	1850	c.1781C>T	c.(1780-1782)gCc>gTc	p.A594V	KCND3_ENST00000302127.4_Missense_Mutation_p.A594V|KCND3_ENST00000315987.2_Missense_Mutation_p.A613V			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	613						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)		GCTGATGATGGCTGTGGTGAT	0.557000													17	15					0	0	0.008871	0	0
PXDNL	137902	broad.mit.edu	37	8	52320774	52320774	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:52320774G>A	ENST00000356297.4	-	17	3510	c.3410C>T	c.(3409-3411)tCg>tTg	p.S1137L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S1137L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGGCAGCCGAATCCACGGC	0.522000													162	83					0	0	0.003610	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512832	41512832	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:41512832C>T	ENST00000324071.4	+	4	514	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	169					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCCCACCTTCCTCTTCCAGT	0.502000													13	11					0	0	0.001855	0	0
DPEP1	1800	broad.mit.edu	37	16	89703657	89703657	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:89703657G>A	ENST00000393092.3	+	7	928	c.637G>A	c.(637-639)Gct>Act	p.A213T	DPEP1_ENST00000261615.4_Missense_Mutation_p.A213T|DPEP1_ENST00000421184.1_Missense_Mutation_p.A213T	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	213					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATCGACTTGGCTCACGTGTC	0.667000													31	30					0	0	0.003271	0	0
NLRC5	84166	broad.mit.edu	37	16	57116378	57116378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:57116378C>T	ENST00000262510.6	+	49	5764	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1818*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1818*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1847					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 interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|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|protein binding|RNA polymerase II core promoter sequence-specific DNA 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)				CCTGAAGAGCCAGGAGCCCAG	0.567000													20	54					0	0	0.002780	0	0
EFHB	151651	broad.mit.edu	37	3	19947215	19947215	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:19947215G>A	ENST00000295824.9	-	6	1476	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.P309S	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	439					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AAACTTGATGGGTTATACTTT	0.398000													13	19					0	0	0.001368	0	0
S100A7A	338324	broad.mit.edu	37	1	153390687	153390687	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:153390687C>T	ENST00000368729.4	+	2	186	c.129C>T	c.(127-129)ttC>ttT	p.F43F	S100A7A_ENST00000368728.2_Silent_p.F43F|S100A7A_ENST00000329256.2_Silent_p.F43F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	43	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCCAATTTCCTCAGTGCCT	0.493000													24	40					0	0	0.003330	0	0
NKD2	85409	broad.mit.edu	37	5	1034362	1034362	+	Missense_Mutation	SNP	G	G	A	rs143957338		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:1034362G>A	ENST00000296849.5	+	6	572	c.343G>A	c.(343-345)Gat>Aat	p.D115N	NKD2_ENST00000537972.1_Missense_Mutation_p.D115N|NKD2_ENST00000274150.4_Missense_Mutation_p.D115N	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	115	Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	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)			ACTCCAGTGCGATGTCTCGGT	0.627000													13	32					0	0	0.001855	0	0
C1orf168	199920	broad.mit.edu	37	1	57192203	57192203	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:57192203T>G	ENST00000343433.6	-	16	1927	c.1847A>C	c.(1846-1848)aAa>aCa	p.K616T		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	616										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTCTCTTTTTTTTCCTTTGG	0.358000													5	7					0	0	0.001168	0	0
MYCN	4613	broad.mit.edu	37	2	16085831	16085831	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:16085831C>T	ENST00000281043.3	+	3	1304	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	336					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)			GCCGCCCCCTCTCCCTACGTG	0.612000			A		neuroblastoma								12	6					0	0	0.000978	0	0
CSMD2	114784	broad.mit.edu	37	1	34011788	34011788	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:34011788C>T	ENST00000373381.4	-	57	9125	c.8949G>A	c.(8947-8949)ggG>ggA	p.G2983G		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2956	Sushi 22.					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)				GAGCCGGGATCCCAGGGTCAC	0.567000													7	14					0	0	0.004482	0	0
ITGB4	3691	broad.mit.edu	37	17	73751232	73751232	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:73751232C>T	ENST00000339591.3	+	34	4632	c.4445C>T	c.(4444-4446)tCc>tTc	p.S1482F	ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1482F|ITGB4_ENST00000200181.3_Intron			P16144	ITB4_HUMAN	integrin, beta 4	1519					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			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)			TTCCCCCCTTCCAGGGGCCCA	0.667000													14	34					0	0	0.004007	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755146	72755146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:72755146G>A	ENST00000377182.4	+	8	1697	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	360	MAM 3.					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						GTCCAGGTTGGACCCGAGTGA	0.463000													13	15					0	0	0.002450	0	0
FOXN1	8456	broad.mit.edu	37	17	26861437	26861437	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:26861437C>T	ENST00000226247.2	+	6	1045	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	FOXN1_ENST00000579795.1_Missense_Mutation_p.S339F	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	339					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TCAGGAAGTTCCTCCCGCAAG	0.547000													27	31					0	0	0.003954	0	0
DNAH2	146754	broad.mit.edu	37	17	7722568	7722568	+	Silent	SNP	C	C	T	rs111592711		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:7722568C>T	ENST00000572933.1	+	72	12317	c.10857C>T	c.(10855-10857)ttC>ttT	p.F3619F	DNAH2_ENST00000389173.2_Silent_p.F3619F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3619					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCTGTTCTTCGTGCTCAATG	0.587000													30	39					0	0	0.001786	0	0
AIRE	326	broad.mit.edu	37	21	45712900	45712900	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:45712900G>A	ENST00000291582.5	+	10	1247	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	AIRE_ENST00000329347.4_Missense_Mutation_p.G167R|AIRE_ENST00000355347.4_Missense_Mutation_p.G167R	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	374					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TAGGTCGGCGGGAGAGGAGGT	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				29	38					0	0	0.004289	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058017	46058017	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:46058017C>T	ENST00000380095.1	+	1	745	c.683C>T	c.(682-684)tCc>tTc	p.S228F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	228						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TCCTGTGTTTCCCTCCTCTGC	0.682000													31	37					0	0	0.002836	0	0
PADI6	353238	broad.mit.edu	37	1	17706448	17706448	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:17706448G>A	ENST00000434762.2	+	0	451							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACCGCAATGGGCAAGTTGAG	0.512000													19	32					0	0	0.002299	0	0
ZNF445	353274	broad.mit.edu	37	3	44489458	44489458	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:44489458G>A	ENST00000425708.2	-	7	2046	c.1705C>T	c.(1705-1707)Ctt>Ttt	p.L569F	ZNF445_ENST00000396077.2_Missense_Mutation_p.L569F			P59923	ZN445_HUMAN	zinc finger protein 445	569					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCAATTCAAGAAATTTCTTC	0.468000													18	41					0	0	0.008871	0	0
CEP350	9857	broad.mit.edu	37	1	180034296	180034296	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:180034296C>T	ENST00000367607.3	+	27	5874	c.5456C>T	c.(5455-5457)cCt>cTt	p.P1819L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1819						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCAACCAGTCCTGGTCCAACT	0.433000													7	8					0	0	0.001984	0	0
DOCK2	1794	broad.mit.edu	37	5	169116293	169116293	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:169116293C>T	ENST00000256935.8	+	9	879	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	267					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor 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)			CCGGGGCTTCCCTAAGGAGAT	0.522000													15	16					0	0	0.004990	0	0
DLEC1	9940	broad.mit.edu	37	3	38158082	38158082	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:38158082G>A	ENST00000308059.6	+	28	4016	c.3995G>A	c.(3994-3996)gGt>gAt	p.G1332D	DLEC1_ENST00000452631.2_Missense_Mutation_p.G1335D|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1332D			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1332					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)		ACCCCTGAGGGTGGCTGCCTC	0.627000													49	70					0	0	0.003610	0	0
CUZD1	50624	broad.mit.edu	37	10	124596504	124596504	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:124596504G>A	ENST00000368904.1	-	7	1609	c.660C>T	c.(658-660)acC>acT	p.T220T	CUZD1_ENST00000545804.1_Silent_p.T220T|CUZD1_ENST00000392790.1_Silent_p.T220T			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	220	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GGCCAGAGTTGGTGGAGGGGC	0.458000													6	7					0	0	0.001168	0	0
COQ6	51004	broad.mit.edu	37	14	74428237	74428237	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:74428237C>G	ENST00000334571.2	+	10	1214	c.1174C>G	c.(1174-1176)Cac>Gac	p.H392D	COQ6_ENST00000238709.4_Missense_Mutation_p.H317D|COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000557780.1_3'UTR|COQ6_ENST00000394026.4_Missense_Mutation_p.H367D	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	392					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTTGGCCCATCACCTCAGTAC	0.507000													10	22					0	0	0.000978	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709001	38709001	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:38709001G>A	ENST00000417039.1	-	0	696																											TGATGCCCAGGGAAGACAGGG	0.493000													11	5					0	0	0.001855	0	0
BTBD11	121551	broad.mit.edu	37	12	108011078	108011078	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:108011078G>A	ENST00000280758.5	+	9	2624	c.2095_splice	c.e9-1	p.G699_splice	BTBD11_ENST00000490090.2_Splice_Site_p.G699_splice|BTBD11_ENST00000357167.4_Splice_Site_p.G236_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	699						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						GGGCTTGCAGGAAATTTTGAG	0.502000													39	58					0	0	0.002852	0	0
ENPEP	2028	broad.mit.edu	37	4	111470779	111470779	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:111470779G>A	ENST00000265162.5	+	16	2663	c.2321G>A	c.(2320-2322)gGg>gAg	p.G774E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	774					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)	TGGCTAAATGGGACTGTAAGG	0.428000													7	3					0	0	0.001984	0	0
WFDC12	128488	broad.mit.edu	37	20	43752754	43752754	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:43752754C>T	ENST00000372785.3	-	2	249	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	78					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				TTACCTTCTTCCAGTTCCTTC	0.542000													7	13					0	0	0.001984	0	0
ATP1B2	482	broad.mit.edu	37	17	7557429	7557429	+	Missense_Mutation	SNP	G	G	A	rs139562417		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:7557429G>A	ENST00000250111.4	+	4	813	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	136					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)|p.E136K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		ACGCTATTACGAACAGCCAGA	0.552000													94	150					0	0	0.003610	0	0
PRR23B	389151	broad.mit.edu	37	3	138739354	138739354	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:138739354C>T	ENST00000329447.5	-	1	414	c.150G>A	c.(148-150)ggG>ggA	p.G50G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	50										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGCCGGGTCCCCCGCCGGGT	0.751000													3	4					0	0	0.004672	0	0
BTK	695	broad.mit.edu	37	X	100608220	100608220	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:100608220C>T	ENST00000308731.7	-	18	2033	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	BTK_ENST00000372880.1_Missense_Mutation_p.E448K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	624	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATACCTTCTCTGAAGCCAGA	0.438000									Agammaglobulinemia, X-linked				75	95					0	0	0.003610	0	0
PSG6	5675	broad.mit.edu	37	19	43414971	43414971	+	Missense_Mutation	SNP	T	T	C	rs144744998		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:43414971T>C	ENST00000187910.2	-	3	532	c.467A>G	c.(466-468)aAc>aGc	p.N156S	PSG6_ENST00000402603.4_Missense_Mutation_p.N156S|PSG6_ENST00000292125.2_Missense_Mutation_p.N156S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.N156S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CTCCCTGGGGTTTAAGTTGCT	0.527000													51	64					0	0	0.003610	0	0
GALNT13	114805	broad.mit.edu	37	2	155115593	155115593	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:155115593G>A	ENST00000392825.3	+	8	1484	c.917G>A	c.(916-918)gGa>gAa	p.G306E	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.G306E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	306	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GAAGAGATAGGAACTTACGAT	0.333000													9	18					0	0	0.006214	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95430549	95430549	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:95430549G>A	ENST00000359204.4	-	13	1080	c.883C>T	c.(883-885)Cca>Tca	p.P295S	FRA10AC1_ENST00000460752.1_5'UTR|FRA10AC1_ENST00000536233.1_3'UTR	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	295						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCTGTCTCTGGTAGTGGACCC	0.323000													3	3					0	0	0.004672	0	0
ACCSL	390110	broad.mit.edu	37	11	44072947	44072947	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:44072947C>T	ENST00000378832.1	+	4	754	c.698C>T	c.(697-699)cCa>cTa	p.P233L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	233							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CGACTTGACCCAGAAAATGTG	0.572000													15	29					0	0	0.002450	0	0
NRAP	4892	broad.mit.edu	37	10	115412762	115412762	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:115412762C>T	ENST00000369358.4	-	6	746	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	NRAP_ENST00000369360.3_Missense_Mutation_p.G168R|NRAP_ENST00000359988.3_Missense_Mutation_p.G168R|NRAP_ENST00000360478.3_Missense_Mutation_p.G168R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	168						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)		GGAAAGCTCCCCTTGCCCCTG	0.473000													20	27					0	0	0.001882	0	0
CFI	3426	broad.mit.edu	37	4	110682704	110682704	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:110682704G>A	ENST00000394634.2	-	4	834	c.627C>T	c.(625-627)ttC>ttT	p.F209F	CFI_ENST00000394635.3_Silent_p.F209F|CFI_ENST00000512148.1_Silent_p.F209F	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	209	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.F209F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACATCAGCGAAATCCTGGT	0.393000													12	20					0	0	0.001855	0	0
ASS1	445	broad.mit.edu	37	9	133370310	133370310	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:133370310G>A	ENST00000372394.1	+	14	1508	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ASS1_ENST00000372393.3_Missense_Mutation_p.E343K|ASS1_ENST00000352480.5_Missense_Mutation_p.E343K			P00966	ASSY_HUMAN	argininosuccinate synthase 1	343					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CAAGTCCCAGGAGCGAGTGGA	0.587000													25	17					0	0	0.005443	0	0
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	124					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577000													201	254					0	0	0.003610	0	0
SRRT	51593	broad.mit.edu	37	7	100484463	100484463	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100484463G>A	ENST00000388793.4	+	14	1912	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	SRRT_ENST00000432932.1_Silent_p.L564L|SRRT_ENST00000347433.4_Silent_p.L565L|SRRT_ENST00000457580.2_Silent_p.L565L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	565					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCGACTACCTGATCGAGGAAG	0.577000													23	27					0	0	0.002299	0	0
ETAA1	54465	broad.mit.edu	37	2	67631024	67631024	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:67631024C>T	ENST00000272342.5	+	5	1340	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	404						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAACTCTTTCCTTCTAAAAC	0.353000													8	16					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179406269	179406269	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:179406269G>A	ENST00000589042.1	-	350	97759	c.97535C>T	c.(97534-97536)tCc>tTc	p.S32512F	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30871F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23447F|TTN_ENST00000342992.6_Missense_Mutation_p.S29944F|TTN_ENST00000342175.6_Missense_Mutation_p.S23639F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23572F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30871	Ig-like 143.						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)			GCCATCACGGGAAACATCAAA	0.453000													6	1					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9075901	9075901	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:9075901T>C	ENST00000397910.4	-	3	11748	c.11545A>G	c.(11545-11547)Act>Gct	p.T3849A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3850	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						CTCTGAAAAGTTGCATCTGGA	0.498000													11	26					0	0	0.000978	0	0
TLR2	7097	broad.mit.edu	37	4	154625293	154625293	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:154625293C>T	ENST00000260010.6	+	1	2642	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	412					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|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like 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 NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	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)				TTTGCTCACTCTGAAAAACTT	0.368000													6	13					0	0	0.003080	0	0
UNC5CL	222643	broad.mit.edu	37	6	40999785	40999785	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:40999785C>T	ENST00000244565.3	-	5	1129	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R	UNC5CL_ENST00000373164.1_Silent_p.R347R|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	347	Interaction with RELA and NFKB1.				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)					CTGCTTTTCTCCGGAAGCAGA	0.577000													21	57					0	0	0.002299	0	0
NLRP3	114548	broad.mit.edu	37	1	247599429	247599429	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:247599429C>T	ENST00000336119.3	+	6	3402	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L886L|NLRP3_ENST00000391827.2_Silent_p.L829L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	886					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)			ACAGTGTAACCTGCAGAAACT	0.453000													17	17					0	0	0.008871	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779021	31779021	+	Silent	SNP	G	G	A	rs140616297	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:31779021G>A	ENST00000375654.4	-	2	918	c.729C>T	c.(727-729)ttC>ttT	p.F243F	HSPA1L_ENST00000417199.3_Silent_p.F243F	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	243					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						ACTCCTCCACGAAGTGGCTCA	0.557000													244	522					0	0	0.003610	0	0
ITFG3	83986	broad.mit.edu	37	16	314898	314898	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:314898C>T	ENST00000399932.3	+	13	1987	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Silent_p.I512I|ITFG3_ENST00000450082.2_Silent_p.I512I|ITFG3_ENST00000301678.3_Silent_p.I512I|ITFG3_ENST00000442458.2_Intron			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	512						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCTCTGTGATCAAGCACAAGG	0.662000													32	32					0	0	0.001786	0	0
LST3	0	broad.mit.edu	37	12	21196326	21196326	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:21196326C>T	ENST00000381541.3	+	7	851	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLCO1B7_ENST00000421593.2_Silent_p.F215F|SLCO1B7_ENST00000554957.1_Silent_p.F262F|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron																							GGCTTGGTTTCCTTGTGTCTG	0.353000													5	11					0	0	0.000602	0	0
PTK6	5753	broad.mit.edu	37	20	62162165	62162165	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:62162165C>T	ENST00000217185.2	-	6	975	c.948G>A	c.(946-948)agG>agA	p.R316R	PTK6_ENST00000542869.1_Silent_p.R215R	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	316	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)			CGAGGATGTTCCTGGCGGCCA	0.617000													34	17					0	0	0.003755	0	0
LZTR1	8216	broad.mit.edu	37	22	21346528	21346528	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:21346528G>A	ENST00000215739.8	+	10	1378	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	LZTR1_ENST00000389355.3_Missense_Mutation_p.R321Q|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	340					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTGCCCGAGCGAGCCTGTGCT	0.612000													33	39					0	0	0.003755	0	0
TTC7A	57217	broad.mit.edu	37	2	47249053	47249053	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:47249053C>T	ENST00000319190.5	+	12	1813	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.A448V|TTC7A_ENST00000394850.2_Missense_Mutation_p.A482V|TTC7A_ENST00000263737.6_Missense_Mutation_p.A128V	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	482							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGAGAGGAAGCCGGGGAGTTC	0.607000													39	45					0	0	0.007835	0	0
DSP	1832	broad.mit.edu	37	6	7584329	7584329	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:7584329G>A	ENST00000379802.3	+	24	7175	c.6834G>A	c.(6832-6834)atG>atA	p.M2278I	DSP_ENST00000418664.2_Missense_Mutation_p.M1679I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2278	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGGCCATGAAAATTGGCT	0.473000													30	81					0	0	0.008361	0	0
ELAVL2	1993	broad.mit.edu	37	9	23765034	23765034	+	Silent	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:23765034A>G	ENST00000380110.4	-	2	112	c.45T>C	c.(43-45)ggT>ggC	p.G15G	ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Intron			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	0					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGCCCACGAACCACTTCTAA	0.468000													4	8					0	0	0.000248	0	0
SBF1	6305	broad.mit.edu	37	22	50898538	50898538	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:50898538G>A	ENST00000380817.2	-	26	3517	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	SBF1_ENST00000390679.3_Missense_Mutation_p.P1112S|SBF1_ENST00000348911.6_Missense_Mutation_p.P1113S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1112					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)		CGGTCGGAGGGCTTCAGGGCT	0.692000													14	27					0	0	0.003163	0	0
OR6N1	128372	broad.mit.edu	37	1	158736021	158736021	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:158736021C>T	ENST00000335094.2	-	1	471	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCCAAGCCTCCCAACCAACA	0.532000													6	5					0	0	0.001984	0	0
GARS	2617	broad.mit.edu	37	7	30668228	30668228	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:30668228C>T	ENST00000389266.3	+	14	1993	c.1752C>T	c.(1750-1752)atC>atT	p.I584I		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	584					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TGGGTAGGATCATGTATACGG	0.368000													16	33					0	0	0.004990	0	0
LGALS9C	654346	broad.mit.edu	37	17	18392260	18392260	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:18392260C>T	ENST00000328114.6	+	5	531	c.450C>T	c.(448-450)ccC>ccT	p.P150P	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000583322.1_Intron|LGALS9C_ENST00000412421.2_Silent_p.P62P	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	150							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AACAGAATCCCCGCGCAGTCC	0.582000													11	37					0	0	0.000978	0	0
NEBL	10529	broad.mit.edu	37	10	21097441	21097441	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:21097441C>T	ENST00000377122.4	-	26	3155	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	920	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGATACCTCCTTCATCAGA	0.393000													7	8					0	0	0.006214	0	0
OR2T3	343173	broad.mit.edu	37	1	248637593	248637593	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:248637593G>A	ENST00000359594.2	+	1	967	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			AGTCAAGAATGAACCAAGAAA	0.488000													26	74					0	0	0.005443	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321264	79321264	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:79321264G>A	ENST00000428286.1	-	8	6049	c.4849C>T	c.(4849-4851)Cac>Tac	p.H1617Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.H1976Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1976					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTCTGCGTGAGTAAAGGCT	0.453000													9	25					0	0	0.008291	0	0
MTBP	27085	broad.mit.edu	37	8	121502730	121502730	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:121502730C>T	ENST00000305949.1	+	13	1412	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	456					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)			TTATCACTTCCACATTTTTCT	0.348000													7	7					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	114185975	114185975	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:114185975C>T	ENST00000297405.5	-	4	929	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D229N|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.D229N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D189N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	229	Sushi 1.					integral to membrane|plasma membrane		p.D229N(1)		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						ACAGGAAAATCCCACGAAGCT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	28					0	0	0.006122	0	0
TACR3	6870	broad.mit.edu	37	4	104511123	104511123	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:104511123G>A	ENST00000304883.2	-	5	1254	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	372						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGACACCAGCGAAATGCTCTC	0.448000													8	5					0	0	0.003080	0	0
HUWE1	10075	broad.mit.edu	37	X	53612009	53612009	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:53612009C>T	ENST00000342160.3	-	39	5421	c.4964G>A	c.(4963-4965)cGa>cAa	p.R1655Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1655Q|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1655Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1655	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTATCTTCTTCGGCCTGCAGT	0.507000													40	54					0	0	0.002852	0	0
XDH	7498	broad.mit.edu	37	2	31599976	31599976	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:31599976C>T	ENST00000379416.3	-	14	1418	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	457					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)	GGCCATTCCACCATAGCAAAG	0.507000													35	42					0	0	0.004289	0	0
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S															p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597000													5	34					0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	39071102	39071102	+	Silent	SNP	G	G	A	rs118192169		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:39071102G>A	ENST00000355481.4	+	100	14720	c.14589G>A	c.(14587-14589)gaG>gaA	p.E4863E	RYR1_ENST00000360985.3_Silent_p.E4863E|RYR1_ENST00000359596.3_Silent_p.E4868E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4868			FYNKSED -> Y (in CCD).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	ACAAGAGCGAGGATGAGGATG	0.557000													34	46					0	0	0.006230	0	0
TYW1B	441250	broad.mit.edu	37	7	72209570	72209570	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:72209570G>A	ENST00000438125.1	-	0	585							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCTCCCTCGGAGCATCGACT	0.418000													9	16					0	0	0.004482	0	0
PDE4C	5143	broad.mit.edu	37	19	18327582	18327582	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:18327582C>T	ENST00000355502.3	-	16	2325	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	PDE4C_ENST00000539010.1_Missense_Mutation_p.R254Q|PDE4C_ENST00000594617.2_Missense_Mutation_p.R485Q|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.R379Q|PDE4C_ENST00000262805.11_Missense_Mutation_p.R453Q|PDE4C_ENST00000594465.2_Missense_Mutation_p.R485Q			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	485					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CAGACTCAGTCGCTGCTTGGC	0.612000													55	49					0	0	0.003610	0	0
MTMR7	9108	broad.mit.edu	37	8	17161938	17161938	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:17161938C>T	ENST00000180173.5	-	12	1477	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	MTMR7_ENST00000521857.1_Silent_p.Q481Q|MTMR7_ENST00000398099.3_Silent_p.Q72Q	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	481	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCCCTGAGTCTGGCTGTGAT	0.428000													7	27					0	0	0.008291	0	0
SAMD7	344658	broad.mit.edu	37	3	169654200	169654200	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:169654200G>A	ENST00000428432.2	+	8	1504	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	SAMD7_ENST00000335556.3_Missense_Mutation_p.G372E	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	372	SAM.									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)			GGCACTATGGGATTAAAGCTA	0.343000													6	19					0	0	0.004482	0	0
C2orf71	388939	broad.mit.edu	37	2	29287774	29287774	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:29287774G>A	ENST00000331664.5	-	2	3827	c.3828C>T	c.(3826-3828)tcC>tcT	p.S1276S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1276					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						CCTCTGGCTGGGATTTGTCCT	0.657000													9	14					0	0	0.000978	0	0
TENM3	55714	broad.mit.edu	37	4	183522201	183522201	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:183522201G>A	ENST00000511685.1	+	4	759	c.636G>A	c.(634-636)agG>agA	p.R212R	TENM3_ENST00000406950.2_Silent_p.R212R					teneurin transmembrane protein 3																		CCAATAGAAGGAACCAGAGTC	0.587000													58	79					0	0	0.003610	0	0
POTEF	728378	broad.mit.edu	37	2	130832275	130832275	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:130832275C>T	ENST00000357462.5	-	15	2863	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	POTEF_ENST00000409914.2_Missense_Mutation_p.E924K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	924	Actin-like.					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						ATCTCCTGCTCGAAGTCCAGG	0.592000													13	31					0	0	0.003163	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:5811554C>T	ENST00000381095.3	-	6	2382	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	NLGN4X_ENST00000381093.2_Silent_p.T605T|NLGN4X_ENST00000381092.1_Silent_p.T585T|NLGN4X_ENST00000538097.1_Silent_p.T585T|NLGN4X_ENST00000275857.6_Silent_p.T585T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000													35	13					0	0	0.007835	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919002	12919002	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:12919002G>A	ENST00000240189.2	+	2	225	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	46										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)		CCTTCAGCAGGAGACACTTCC	0.592000													23	58					0	0	0.002299	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806095	44806095	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:44806095C>T	ENST00000309315.4	+	18	2611	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P804S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P830S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P798S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P772S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	830	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTGGGGCCCCTCCAGGTCC	0.597000													52	59					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177226513	177226513	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:177226513C>T	ENST00000361539.4	+	4	974	c.662C>T	c.(661-663)gCc>gTc	p.A221V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		221						extracellular region				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						GCCACGGGGGCCATCAAGGTA	0.617000													3	13					0	0	0.004672	0	0
CXorf22	170063	broad.mit.edu	37	X	35971783	35971783	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:35971783C>T	ENST00000297866.5	+	7	1187	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	374										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGATTTGAGTCCGTAGGAAGT	0.323000													12	8					0	0	0.001855	0	0
HDC	3067	broad.mit.edu	37	15	50534909	50534909	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:50534909C>T	ENST00000267845.3	-	12	1939	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	HDC_ENST00000543581.1_Missense_Mutation_p.G480R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	513					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)	GGATCATCTCCTGCCCCACTG	0.582000													12	21					0	0	0.001855	0	0
BCORL1	63035	broad.mit.edu	37	X	129146564	129146564	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:129146564C>T	ENST00000540052.1	+	2	141	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	BCORL1_ENST00000218147.7_Missense_Mutation_p.L33F|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000303743.5_Missense_Mutation_p.L33F|BCORL1_ENST00000359304.2_Missense_Mutation_p.L33F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	33					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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						AAGAGCACCTCTTTCTGATGA	0.527000													59	96					0	0	0.003610	0	0
CRX	1406	broad.mit.edu	37	19	48339556	48339556	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:48339556G>A	ENST00000221996.7	+	3	363	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.E53K	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	53					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		CCAACTGGAGGAGCTGGAGGC	0.632000													28	44					0	0	0.007291	0	0
BUB1	699	broad.mit.edu	37	2	111398697	111398697	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:111398697G>A	ENST00000535254.1	-	22	2876	c.2809C>T	c.(2809-2811)Cca>Tca	p.P937S	BUB1_ENST00000409311.1_Missense_Mutation_p.P900S|BUB1_ENST00000302759.6_Missense_Mutation_p.P957S	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	957	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTCCTTTTGGAAAAAGTTTC	0.368000													16	16					0	0	0.004007	0	0
OR11G2	390439	broad.mit.edu	37	14	20666514	20666514	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:20666514G>A	ENST00000357366.3	+	1	1020	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	340					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)		AAGCTCTGAAGAAATTTTGGG	0.358000													37	51					0	0	0.008740	0	0
OR13C9	286362	broad.mit.edu	37	9	107380132	107380132	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:107380132C>T	ENST00000259362.1	-	1	353	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GGTCAAAGGCCATCATGCCCA	0.502000													12	5					0	0	0.002450	0	0
EZH2	2146	broad.mit.edu	37	7	148508728	148508728	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:148508728A>T	ENST00000320356.2	-	16	2057	c.1936T>A	c.(1936-1938)Tac>Aac	p.Y646N	EZH2_ENST00000541220.1_Missense_Mutation_p.Y590N|EZH2_ENST00000460911.1_Missense_Mutation_p.Y641N|EZH2_ENST00000483967.1_Missense_Mutation_p.Y632N|EZH2_ENST00000478654.1_Missense_Mutation_p.Y590N|EZH2_ENST00000350995.2_Missense_Mutation_p.Y602N|EZH2_ENST00000476773.1_Missense_Mutation_p.Y590N	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	641	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Y646N(51)|p.Y646H(19)|p.Y602N(14)|p.Y602H(6)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCCACAGTATTCTGAGATG	0.383000			Mis		DLBCL								9	12					0	0	0.006214	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2983757	2983757	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:2983757C>T	ENST00000399667.2	+	6	1653	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	FLYWCH1_ENST00000253928.9_Silent_p.F430F|FLYWCH1_ENST00000416288.2_Silent_p.F429F			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	430						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGGGCAGCTTCCTGGTGTACG	0.682000													9	11					0	0	0.008291	0	0
PCSK5	5125	broad.mit.edu	37	9	78965799	78965799	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:78965799G>A	ENST00000545128.1	+	35	5479	c.4941G>A	c.(4939-4941)ggG>ggA	p.G1647G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	812					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCATGGGAGGGATCTGCACCT	0.488000													14	46					0	0	0.004990	0	0
SORT1	6272	broad.mit.edu	37	1	109897060	109897060	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:109897060G>A	ENST00000256637.6	-	5	695	c.637C>T	c.(637-639)Cct>Tct	p.P213S	SORT1_ENST00000538502.1_Missense_Mutation_p.P77S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	213					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGATGAAAAGGGAGATCTGTT	0.428000													73	102					0	0	0.003610	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819197	200819197	+	Silent	SNP	C	C	T	rs141562761		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:200819197C>T	ENST00000358823.2	+	11	3570	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	CAMSAP2_ENST00000413307.2_Silent_p.P1084P|CAMSAP2_ENST00000236925.4_Silent_p.P1111P	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1111						cytoplasm|microtubule	protein binding										CTCCTAAACCCGTTTTCCCAC	0.443000													11	18					0	0	0.000978	0	0
LOC442028	442028	broad.mit.edu	37	2	95558300	95558300	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:95558300G>A	ENST00000568768.1	-	0	476																											CACGTGTATGGATATTTCTTC	0.418000													5	6					0	0	0.001984	0	0
EPHA1	2041	broad.mit.edu	37	7	143098468	143098468	+	Missense_Mutation	SNP	C	C	T	rs111858878		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:143098468C>T	ENST00000275815.3	-	3	467	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	127						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTCACTCTCCATGTACAGAA	0.617000													74	95					0	0	0.003610	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166506	67166506	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:67166506C>T	ENST00000376745.4	-	5	800	c.652G>A	c.(652-654)Gag>Aag	p.E218K	PPP1CA_ENST00000358239.4_Missense_Mutation_p.E174K|PPP1CA_ENST00000312989.7_Missense_Mutation_p.E229K|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	218					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CGGTCGTTCTCGCCCCAGCCC	0.622000													28	38					0	0	0.008361	0	0
COL11A1	1301	broad.mit.edu	37	1	103381207	103381207	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:103381207G>A	ENST00000358392.2	-	50	4149	c.3832C>T	c.(3832-3834)Cct>Tct	p.P1278S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1150S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1227S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1266S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1266	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTCCCCAGGAGGCCCTGGG	0.363000													11	9					0	0	0.000978	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032423	9032423	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:9032423G>A	ENST00000383836.3	-	21	3086	c.2659C>T	c.(2659-2661)Ccc>Tcc	p.P887S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P863S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	887					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCAGCCCGGGGTGGTGTGTCT	0.697000			T	RAF1	pilocytic astrocytoma								11	25					0	0	0.000978	0	0
AKAP6	9472	broad.mit.edu	37	14	32902941	32902941	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:32902941C>T	ENST00000280979.4	+	2	412	c.242C>T	c.(241-243)tCa>tTa	p.S81L	AKAP6_ENST00000557354.1_Missense_Mutation_p.S81L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S81L|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	81					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGGATGACCTCAGAGAGGGTC	0.507000													6	11					0	0	0.001168	0	0
ACSM5	54988	broad.mit.edu	37	16	20430564	20430564	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:20430564C>T	ENST00000331849.4	+	4	577	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	ACSM5_ENST00000575584.1_Missense_Mutation_p.P144S	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	144					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTGATGATTCCGGGTGTGAC	0.557000													13	23					0	0	0.001855	0	0
THSD7B	80731	broad.mit.edu	37	2	137813992	137813992	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:137813992C>T	ENST00000409968.1	+	3	320	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S	THSD7B_ENST00000413152.2_Missense_Mutation_p.P17S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P48S					thrombospondin, type I, domain containing 7B											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)		GCCTGTAGGTCCGTGGGGAAG	0.473000													8	8					0	0	0.006214	0	0
KALRN	8997	broad.mit.edu	37	3	123987794	123987794	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:123987794G>A	ENST00000360013.3	+	5	782	c.655G>A	c.(655-657)Gat>Aat	p.D219N	KALRN_ENST00000460856.1_Missense_Mutation_p.D219N|KALRN_ENST00000240874.3_Missense_Mutation_p.D219N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	219					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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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						GTTTCCTGTGGATGTGGAGGG	0.627000													12	14					0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139164878	139164878	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:139164878C>T	ENST00000395297.1	-	13	2010	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	614										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)			GTACTTAATTCATGGAGAGTT	0.453000										HNSCC(54;0.14)			27	88					0	0	0.005443	0	0
ARPP21	10777	broad.mit.edu	37	3	35723313	35723313	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:35723313C>T	ENST00000187397.4	+	3	526	c.70C>T	c.(70-72)Cca>Tca	p.P24S	ARPP21_ENST00000428373.1_Missense_Mutation_p.P24S|ARPP21_ENST00000441454.1_Missense_Mutation_p.P24S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P24S|ARPP21_ENST00000412048.1_Missense_Mutation_p.P24S|ARPP21_ENST00000396482.2_Missense_Mutation_p.P24S|ARPP21_ENST00000396481.2_Missense_Mutation_p.P24S|ARPP21_ENST00000432682.1_Missense_Mutation_p.P24S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P24S|ARPP21_ENST00000436702.1_Missense_Mutation_p.P24S|ARPP21_ENST00000427542.1_Missense_Mutation_p.P24S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P24S|ARPP21_ENST00000474696.1_Missense_Mutation_p.P24S|ARPP21_ENST00000438071.1_Missense_Mutation_p.P24S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P24S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	24						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GACGGCCACTCCAGAGAACGG	0.468000													4	4					0	0	0.000248	0	0
DPPA2	151871	broad.mit.edu	37	3	109023485	109023485	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:109023485G>A	ENST00000478945.1	-	7	937	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	231						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGCCGAGAGAAGTCTGCCA	0.502000													19	20					0	0	0.007413	0	0
RASGRP2	10235	broad.mit.edu	37	11	64503020	64503020	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:64503020C>T	ENST00000377494.1	-	10	2212	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	RASGRP2_ENST00000394432.3_Missense_Mutation_p.M430I|RASGRP2_ENST00000354024.3_Missense_Mutation_p.M430I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.M430I			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	430	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCACCTCCACCATCTTCTCGA	0.647000													19	26					0	0	0.006122	0	0
PRSS58	136541	broad.mit.edu	37	7	141952372	141952372	+	Missense_Mutation	SNP	G	G	A	rs146814209		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:141952372G>A	ENST00000552471.1	-	4	815	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	PRSS58_ENST00000547058.2_Missense_Mutation_p.R166C			Q8IYP2	PRS58_HUMAN	protease, serine, 58	166	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TAGGCATCGCGACACTGAGGC	0.433000													15	13					0	0	0.004007	0	0
USP54	159195	broad.mit.edu	37	10	75258465	75258465	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:75258465C>T	ENST00000339859.4	-	23	5077	c.4977G>A	c.(4975-4977)gaG>gaA	p.E1659E	RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.E1509E|USP54_ENST00000422491.2_Silent_p.E794E|USP54_ENST00000408019.1_Silent_p.E1659E|USP54_ENST00000394811.2_Silent_p.E700E			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1659					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)					ACAGAAACCCCTCTCCCACTG	0.517000													23	40					0	0	0.002299	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454314	84454314	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:84454314G>A	ENST00000377084.2	-	1	2214	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	443						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)		GCAGCCCCGCGAATTTCTCCC	0.507000													29	33					0	0	0.005443	0	0
XIRP2	129446	broad.mit.edu	37	2	168103940	168103940	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:168103940G>A	ENST00000409195.1	+	9	6127	c.6038G>A	c.(6037-6039)aGa>aAa	p.R2013K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2013K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1791K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1838					actin cytoskeleton organization	cell junction	actin binding	p.R2013I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAGAAGAAAGAACTGAGGTT	0.448000													4	2					0	0	0.000248	0	0
SRRT	51593	broad.mit.edu	37	7	100484465	100484465	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100484465T>A	ENST00000388793.4	+	14	1914	c.1694T>A	c.(1693-1695)aTc>aAc	p.I565N	SRRT_ENST00000432932.1_Missense_Mutation_p.I565N|SRRT_ENST00000347433.4_Missense_Mutation_p.I566N|SRRT_ENST00000457580.2_Missense_Mutation_p.I566N	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	566					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACTACCTGATCGAGGAAGTA	0.582000													25	25					0	0	0.003330	0	0
OR52M1	119772	broad.mit.edu	37	11	4567217	4567217	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:4567217G>A	ENST00000360213.1	+	1	797	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATTCACCGATTTGGTCAG	0.507000													9	15					0	0	0.006214	0	0
COBLL1	22837	broad.mit.edu	37	2	165584664	165584664	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:165584664G>A	ENST00000375458.2	-	4	697	c.476C>T	c.(475-477)aCc>aTc	p.T159I	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.T212I|COBLL1_ENST00000409184.3_Missense_Mutation_p.T197I|COBLL1_ENST00000392717.2_Missense_Mutation_p.T197I|COBLL1_ENST00000342193.4_Missense_Mutation_p.T159I	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	197										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTCACTATGGTCTTCTGTGT	0.363000													10	13					0	0	0.008291	0	0
GPR128	84873	broad.mit.edu	37	3	100413831	100413831	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:100413831A>G	ENST00000273352.3	+	16	2648	c.2380A>G	c.(2380-2382)Aag>Gag	p.K794E	GPR128_ENST00000475887.1_Missense_Mutation_p.K499E|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	794					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGACAATGCAAAGGAAAGCAT	0.408000													22	26					0	0	0.002299	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378150	31378150	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:31378150C>T	ENST00000297142.3	-	2	1055	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	245					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						GAAGTACTTTCATAGAAGGAT	0.473000													25	32					0	0	0.005443	0	0
GALC	2581	broad.mit.edu	37	14	88454820	88454820	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:88454820C>A	ENST00000261304.2	-	2	349	c.243G>T	c.(241-243)caG>caT	p.Q81H	GALC_ENST00000393569.2_Missense_Mutation_p.Q55H|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Missense_Mutation_p.Q25H|GALC_ENST00000393568.4_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	81					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCCAATATCTGAGAACGAT	0.303000													30	47					1.56738e-10	1.74319e-10	0.004289	1	0
EPHB2	2048	broad.mit.edu	37	1	23208919	23208919	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:23208919C>T	ENST00000400191.3	+	6	1389	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	EPHB2_ENST00000374630.3_Silent_p.S457S|EPHB2_ENST00000544305.1_Silent_p.S457S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S451S|EPHB2_ENST00000374632.3_Silent_p.S457S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	457	Fibronectin type-III 2.				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)		TGTCGTGGTCCCAGCCGGACC	0.592000													21	36					0	0	0.002299	0	0
BTBD16	118663	broad.mit.edu	37	10	124043430	124043430	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:124043430G>A	ENST00000368994.2	+	4	486	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	BTBD16_ENST00000260723.4_Missense_Mutation_p.G78R			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	78										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CATCCAAAGTGGGGAAGCAGG	0.398000													6	16					0	0	0.001168	0	0
VPS13A	23230	broad.mit.edu	37	9	79984267	79984267	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:79984267C>T	ENST00000360280.3	+	63	8866	c.8606C>T	c.(8605-8607)cCa>cTa	p.P2869L	VPS13A_ENST00000376636.3_Missense_Mutation_p.P2830L|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2869L|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2869L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2869					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						TTGGGAAATCCATTTGGCTTA	0.294000													7	20					0	0	0.003080	0	0
COL6A3	1293	broad.mit.edu	37	2	238249496	238249496	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:238249496G>A	ENST00000295550.4	-	38	8515	c.8063C>T	c.(8062-8064)tCc>tTc	p.S2688F	COL6A3_ENST00000347401.3_Missense_Mutation_p.S2487F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2488F|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2081F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2482F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2482F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2688	Nonhelical region.|VWFA 12.				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)		GTCAGTCAGGGAGAATTCCAC	0.582000													22	28					0	0	0.001882	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737760	62737760	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:62737760C>T	ENST00000369768.1	-	1	764	c.425G>A	c.(424-426)cGa>cAa	p.R142Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	142						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACCAGGTATCGGTCCACGCT	0.647000													16	30					0	0	0.004990	0	0
USH2A	7399	broad.mit.edu	37	1	215813981	215813981	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:215813981C>T	ENST00000366943.2	-	68	15273	c.14887G>A	c.(14887-14889)Gag>Aag	p.E4963K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4963K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4963	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AACACGTACTCCTTCAGTTGG	0.547000										HNSCC(13;0.011)			21	14					0	0	0.008871	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366767	60366767	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:60366767C>T	ENST00000371204.3	-	8	1243	c.1200G>A	c.(1198-1200)atG>atA	p.M400I	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	400					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TGGTCAGGATCATGGTACCCT	0.547000													11	24					0	0	0.002450	0	0
TCEAL4	79921	broad.mit.edu	37	X	102842186	102842186	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:102842186C>T	ENST00000472745.1	+	3	1135	c.583C>T	c.(583-585)Cca>Tca	p.P195S	TCEAL4_ENST00000494801.1_Missense_Mutation_p.P195S|TCEAL4_ENST00000472484.1_Missense_Mutation_p.P195S|TCEAL4_ENST00000468024.1_Missense_Mutation_p.P195S|TCEAL4_ENST00000415568.2_Missense_Mutation_p.P195S|TCEAL4_ENST00000372629.4_Missense_Mutation_p.P338S			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CCCTAGAGGTCCAAGGGAATT	0.493000													61	75					0	0	0.003610	0	0
PON1	5444	broad.mit.edu	37	7	94953774	94953774	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:94953774A>G	ENST00000222381.3	-	1	245	c.14T>C	c.(13-15)aTt>aCt	p.I5T	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	5					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			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)	GGTGAGCGCAATCAGCTTCGC	0.622000													12	21					0	0	0.001368	0	0
XDH	7498	broad.mit.edu	37	2	31599977	31599977	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:31599977C>T	ENST00000379416.3	-	14	1417	c.1369G>A	c.(1369-1371)Ggt>Agt	p.G457S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	457					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)	GCCATTCCACCATAGCAAAGG	0.507000													34	42					0	0	0.003755	0	0
PIGG	54872	broad.mit.edu	37	4	520987	520987	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:520987C>T	ENST00000453061.2	+	10	2335	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	PIGG_ENST00000383028.4_Silent_p.F610F|PIGG_ENST00000310340.5_Silent_p.F735F|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.F654F	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	743					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						GTGTCCGGTTCCCGTGGCGGC	0.652000													24	28					0	0	0.006320	0	0
GPR112	139378	broad.mit.edu	37	X	135428482	135428482	+	Missense_Mutation	SNP	G	G	A	rs143735478		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:135428482G>A	ENST00000394143.1	+	6	2908	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	GPR112_ENST00000412101.1_Missense_Mutation_p.E668K|GPR112_ENST00000394141.1_Missense_Mutation_p.E668K|GPR112_ENST00000370652.1_Missense_Mutation_p.E873K|GPR112_ENST00000287534.4_Missense_Mutation_p.E810K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	873					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)					AGTGACAGACGAATCAGCACA	0.403000													21	15					0	0	0.008871	0	0
AADACL3	126767	broad.mit.edu	37	1	12779546	12779546	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:12779546C>T	ENST00000359318.5	+	2	272	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	23							hydrolase activity			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)		AGATCTGCCTCCGCTAAAGTA	0.483000													46	66					0	0	0.002522	0	0
CTNND2	1501	broad.mit.edu	37	5	11159700	11159700	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:11159700G>A	ENST00000304623.8	-	12	2336	c.2147C>T	c.(2146-2148)aCc>aTc	p.T716I	CTNND2_ENST00000511377.1_Missense_Mutation_p.T625I|CTNND2_ENST00000458100.2_Missense_Mutation_p.T283I|CTNND2_ENST00000359640.2_Missense_Mutation_p.T716I|CTNND2_ENST00000503622.1_Missense_Mutation_p.T379I|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	716					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAGGCACCCGGTGGCGTTACG	0.532000													12	18					0	0	0.003163	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625174	56625174	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:56625174A>C	ENST00000266980.4	+	2	409	c.116A>C	c.(115-117)tAc>tCc	p.Y39S	SLC39A5_ENST00000454355.2_Missense_Mutation_p.Y39S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	39					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAACCATTACCTGGCCCAG	0.652000													63	81					0	0	0.003610	0	0
DDX39B	7919	broad.mit.edu	37	6	31500599	31500599	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:31500599G>C	ENST00000417556.2	-	8	1500	c.870C>G	c.(868-870)aaC>aaG	p.N290K	DDX39B_ENST00000396172.1_Missense_Mutation_p.N275K|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.N197K|DDX39B_ENST00000458640.1_Missense_Mutation_p.N275K|DDX39B_ENST00000376177.2_Missense_Mutation_p.N275K			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	275	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGAGCTTCCGGTTCTTCTCGT	0.522000													63	40					0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14756441	14756441	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:14756441T>G	ENST00000380881.4	-	30	6156	c.5341A>C	c.(5341-5343)Aac>Cac	p.N1781H	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380880.3_Missense_Mutation_p.N1780H|FREM1_ENST00000422223.2_Missense_Mutation_p.N1780H|FREM1_ENST00000380894.1_Missense_Mutation_p.N316H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1780	Calx-beta.				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)		GACACTTGGTTGACCTTAGGA	0.353000													3	2					0	0	0.004672	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534842	24534842	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:24534842G>A	ENST00000342740.5	+	34	3562	c.3408G>A	c.(3406-3408)ggG>ggA	p.G1136G	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1136										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCACTGAGGGGTCAGAGCCAG	0.617000													43	68					0	0	0.003610	0	0
NUP155	9631	broad.mit.edu	37	5	37328482	37328482	+	Silent	SNP	G	G	A	rs73749020		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:37328482G>A	ENST00000231498.3	-	17	2057	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	NUP155_ENST00000381843.2_Silent_p.S559S|NUP155_ENST00000513532.1_Silent_p.S618S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	618	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCCAAAAAGGATGGATTTG	0.353000													8	9					0	0	0.006214	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890120	20890120	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:20890120G>A	ENST00000381552.1	+	11	1830	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E370K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E439K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E488K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.E488K			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	488	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GACAAAATGGGAACCCATGTG	0.378000													6	11					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2807767	2807767	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:2807767C>T	ENST00000602557.1	-	68	10858	c.10303G>A	c.(10303-10305)Gga>Aga	p.G3435R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3258R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3257R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3434R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3435R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3258R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3435						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)		CCATCTAGTCCCCAGTTGTCA	0.433000													15	72					0	0	0.003163	0	0
HNRNPR	10236	broad.mit.edu	37	1	23645128	23645128	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:23645128G>A	ENST00000478691.1	-	7	842	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	HNRNPR_ENST00000427764.2_Missense_Mutation_p.R251W|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R129W|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R292W|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R289W|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R150W|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R289W	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	289	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGAACCCCCGATTCTTCTTT	0.453000													15	29					0	0	0.006122	0	0
VARS	7407	broad.mit.edu	37	6	31750940	31750940	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:31750940G>A	ENST00000375663.3	-	14	2135	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	VARS_ENST00000444930.2_Silent_p.I270I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	565					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGAATGGGTGGATCACGTTCT	0.552000													86	222					0	0	0.003610	0	0
RFPL1	5988	broad.mit.edu	37	22	29835113	29835113	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:29835113G>A	ENST00000354373.2	+	1	542	c.333G>A	c.(331-333)aaG>aaA	p.K111K	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	111	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCAAGCTGAAGAAGATTCTGC	0.517000													26	46					0	0	0.007291	0	0
SLC37A3	84255	broad.mit.edu	37	7	140069425	140069425	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:140069425T>C	ENST00000326232.9	-	4	459	c.256A>G	c.(256-258)Aca>Gca	p.T86A	SLC37A3_ENST00000447932.2_Missense_Mutation_p.T86A|SLC37A3_ENST00000340308.3_Missense_Mutation_p.T86A|SLC37A3_ENST00000429996.2_Missense_Mutation_p.T86A|SLC37A3_ENST00000461089.1_5'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	86					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTATCCAGTGTGCCGAGGAAA	0.443000													24	21					0	0	0.001786	0	0
SYT1	6857	broad.mit.edu	37	12	79837936	79837936	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:79837936C>T	ENST00000261205.4	+	10	1669	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SYT1_ENST00000552744.1_Missense_Mutation_p.P338S|SYT1_ENST00000457153.2_Missense_Mutation_p.P335S|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.P338S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	338	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACACTTAACCCCTACTACAA	0.358000													18	21					0	0	0.006122	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450857	85450857	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:85450857G>A	ENST00000393217.2	+	8	2347	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	762										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAACAAAAGAAAATTGTTA	0.378000													20	22					0	0	0.008871	0	0
PARVB	29780	broad.mit.edu	37	22	44395501	44395501	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:44395501C>T	ENST00000406477.3	+	2	289	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001003828.2	NP_001003828.1	Q9HBI1	PARVB_HUMAN	parvin, beta	0					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				gttcacttctccctggctcag	0.557000													67	109					0	0	0.003610	0	0
NIN	51199	broad.mit.edu	37	14	51196294	51196294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:51196294G>A	ENST00000245441.5	-	29	6215	c.6025C>T	c.(6025-6027)Cag>Tag	p.Q2009*	NIN_ENST00000382041.3_Nonsense_Mutation_p.Q2009*|NIN_ENST00000453196.1_Nonsense_Mutation_p.Q2009*|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382043.4_Nonsense_Mutation_p.Q1296*|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Nonsense_Mutation_p.Q2009*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2009					centrosome localization	centrosome|microtubule	calcium ion binding|GTP 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)					TGCAGGTGCTGGTTTATCCTT	0.517000			T	PDGFRB	MPD								12	21					0	0	0.002450	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1857613	1857613	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:1857613C>T	ENST00000518288.1	+	19	2355	c.2192C>T	c.(2191-2193)gCc>gTc	p.A731V	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A732V|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A732V|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A707V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A669V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	732					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGAGCCTGGCCGTGGTTGCT	0.622000													29	91					0	0	0.001786	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:103698526G>A	ENST00000245312.3	-	6	1600	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000													6	7					0	0	0.001984	0	0
SVEP1	79987	broad.mit.edu	37	9	113170312	113170312	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:113170312G>A	ENST00000401783.2	-	38	7904	c.7568C>T	c.(7567-7569)tCt>tTt	p.S2523F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2500F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S449F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2523	Sushi 19.				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						TCGGTTGCAAGAGTAGGTAAC	0.483000													13	5					0	0	0.001368	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510406	167510406	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:167510406G>A	ENST00000295777.5	+	4	941	c.510G>A	c.(508-510)agG>agA	p.R170R	SERPINI1_ENST00000446050.2_Silent_p.R170R	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	170					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATCCCCAAGGGATTTTGATG	0.383000													8	11					0	0	0.003080	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:183824092G>A	ENST00000415389.2	+	8	1568	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	HTR3E_ENST00000440596.2_Missense_Mutation_p.E394K|HTR3E_ENST00000436361.2_Missense_Mutation_p.E368K|HTR3E_ENST00000425359.2_Missense_Mutation_p.E353K|HTR3E_ENST00000335304.2_Missense_Mutation_p.E383K	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000													11	8					0	0	0.001368	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:140255890C>T	ENST00000398631.2	+	1	833	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.S278F(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000													75	88					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179452725	179452725	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:179452725C>T	ENST00000589042.1	-	305	63633	c.63409G>A	c.(63409-63411)Gaa>Aaa	p.E21137K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19496K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12072K|TTN_ENST00000342992.6_Missense_Mutation_p.E18569K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12264K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12197K|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19496	Fibronectin type-III 53.						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)			TCCTGGTTTTCATCCAAGCTG	0.468000													5	1					0	0	0.000602	0	0
PPM1A	5494	broad.mit.edu	37	14	60712730	60712730	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:60712730G>A	ENST00000325642.3	+	1	261	c.165G>A	c.(163-165)atG>atA	p.M55I	CTD-2184C24.2_ENST00000529171.1_RNA|PPM1A_ENST00000529574.1_5'UTR	NM_177952.2	NP_808821.2	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	67					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		gaAACCAAATGAAGAGGATGT	0.403000													4	6					0	0	0.001168	0	0
RCBTB1	55213	broad.mit.edu	37	13	50140769	50140769	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:50140769G>A	ENST00000378302.2	-	4	522	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	RCBTB1_ENST00000546015.1_Missense_Mutation_p.L88F|RCBTB1_ENST00000258646.3_Missense_Mutation_p.L88F	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	88					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GTGCTGAGAAGAACATGTGGT	0.433000													30	46					0	0	0.001786	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909486	94909486	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:94909486G>A	ENST00000334708.3	-	4	1058	c.994C>T	c.(994-996)Ctc>Ttc	p.L332F	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	332					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		ATGTTGGTGAGACCAATTTGG	0.438000													24	19					0	0	0.002299	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340728	49340728	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:49340728G>A	ENST00000263265.6	-	20	2713	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	720						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)		GATCTGGGGGGAGGGGTCTCC	0.687000													42	63					0	0	0.003610	0	0
CHST1	8534	broad.mit.edu	37	11	45671313	45671313	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:45671313G>A	ENST00000308064.2	-	4	1831	c.1161C>T	c.(1159-1161)atC>atT	p.I387I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	387					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)		CCGAGGCGGCGATCTTGTAGC	0.701000													36	51					0	0	0.007835	0	0
SYT9	143425	broad.mit.edu	37	11	7334957	7334957	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:7334957C>T	ENST00000318881.6	+	3	1066	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	SYT9_ENST00000396716.2_Missense_Mutation_p.H245Y	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	277	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GACTAAAGTTCACAGAAAGAC	0.433000													17	38					0	0	0.004990	0	0
C6orf165	154313	broad.mit.edu	37	6	88123580	88123580	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:88123580A>G	ENST00000507897.1	+	4	328	c.245A>G	c.(244-246)aAg>aGg	p.K82R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.K82R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	82										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACACTATTAAGATGCAAGTC	0.328000													15	9					0	0	0.006122	0	0
SVOPL	136306	broad.mit.edu	37	7	138312175	138312175	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:138312175G>A	ENST00000421622.1	-	8	949	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SVOPL_ENST00000436657.1_Silent_p.F215F|SVOPL_ENST00000419765.3_Silent_p.F367F|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.F215F			Q8N434	SVOPL_HUMAN	SVOP-like	367						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						GTCTTCCCAGGAAATTGATGC	0.403000													3	6					0	0	0.000602	0	0
RNF148	378925	broad.mit.edu	37	7	122342642	122342642	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:122342642C>T	ENST00000434824.1	-	1	379	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	55						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCTCCTAATTCCGATGTGATC	0.448000													5	10					0	0	0.001168	0	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291803	65291803	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:65291803G>A	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							GGAGCCTACGGCTGCACTTGA	0.498000													8	46					0	0	0.004482	0	0
TLR7	51284	broad.mit.edu	37	X	12906165	12906165	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:12906165C>T	ENST00000380659.3	+	3	2677	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	846					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCTCACTTTCCATATCTGTAT	0.448000													23	40					0	0	0.004656	0	0
GPLD1	2822	broad.mit.edu	37	6	24447092	24447092	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:24447092C>T	ENST00000230036.1	-	18	1904	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	598						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGGTCGGGCTCCCAACCAACA	0.577000													16	40					0	0	0.007413	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403731	28403731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:28403731G>A	ENST00000289788.4	-	2	458	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	105	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						ACCCAGGCCTGGAGCTCCTCA	0.592000													5	19					0	0	0.001168	0	0
IFRD2	7866	broad.mit.edu	37	3	50327709	50327709	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:50327709C>T	ENST00000436390.1	-	7	777	c.280G>A	c.(280-282)Ggt>Agt	p.G94S	IFRD2_ENST00000429673.2_Missense_Mutation_p.G158S|IFRD2_ENST00000417626.2_Missense_Mutation_p.G94S|IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000336089.4_Missense_Mutation_p.G260S			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	158							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCAAGAGCACCCTGCCGGGTC	0.652000													13	11					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	3889491	3889491	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:3889491G>A	ENST00000602557.1	-	4	1101	c.546C>T	c.(544-546)atC>atT	p.I182I	CSMD1_ENST00000400186.3_Silent_p.I182I|CSMD1_ENST00000542608.1_Silent_p.I182I|CSMD1_ENST00000537824.1_Silent_p.I182I|CSMD1_ENST00000520002.1_Silent_p.I182I|CSMD1_ENST00000602723.1_Silent_p.I182I|CSMD1_ENST00000539096.1_Silent_p.I182I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	182	Sushi 1.					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)		TGCAGGTCAGGATGGCGTGGC	0.542000													14	42					0	0	0.002450	0	0
GPR111	222611	broad.mit.edu	37	6	47650081	47650081	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:47650081C>T	ENST00000398742.2	+	5	1631	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	GPR111_ENST00000296862.1_Missense_Mutation_p.L596F|GPR111_ENST00000507065.1_Missense_Mutation_p.L528F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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						GATCTGCTGGCTCAACTGGGA	0.527000													13	9					0	0	0.001855	0	0
ARID5B	84159	broad.mit.edu	37	10	63700073	63700073	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:63700073G>A	ENST00000279873.7	+	3	818	c.408G>A	c.(406-408)agG>agA	p.R136R		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	136					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCTTGGGAAGGAATGGACAGA	0.488000													8	8					0	0	0.003080	0	0
IQSEC3	440073	broad.mit.edu	37	12	247568	247568	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:247568C>T	ENST00000538872.1	+	4	1157	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.L347L|IQSEC3_ENST00000382841.2_Silent_p.L44L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	347					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGAGAGCCGCCTGCCACGGCG	0.667000													13	9					0	0	0.001855	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977182	56977182	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:56977182C>T	ENST00000439977.2	+	8	1353	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	HERPUD1_ENST00000344114.4_Missense_Mutation_p.P227S|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P385S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.P361S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	386						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TCCAGAAGGCCCCCCAGCCAT	0.527000			T	ERG	prostate								53	98					0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62672587	62672587	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:62672587C>T	ENST00000498273.1	+	3	582	c.287C>T	c.(286-288)tCc>tTc	p.S96F		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	96										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tcaGAGAACTCCAGTAGTAGG	0.368000													28	38					0	0	0.002096	0	0
ABCC11	85320	broad.mit.edu	37	16	48261785	48261785	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:48261785C>T	ENST00000394747.1	-	3	676	c.327G>A	c.(325-327)cgG>cgA	p.R109R	ABCC11_ENST00000353782.5_Silent_p.R109R|ABCC11_ENST00000394748.1_Silent_p.R109R|ABCC11_ENST00000356608.2_Silent_p.R109R|ABCC11_ENST00000537808.1_Silent_p.R109R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	109						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTAAGCGACTCCGTAAGCTTT	0.552000													21	41					0	0	0.001882	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622269	106622269	+	RNA	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:106622269C>T	ENST00000390604.2	-	0	120																											CATGTCCACTCACTCAATATC	0.448000													24	21					0	0	0.002780	0	0
FAM221B	392307	broad.mit.edu	37	9	35825669	35825669	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:35825669C>T	ENST00000423537.2	-	2	759	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	164										endometrium(2)|kidney(1)|lung(4)	7						TCCACTTGGACCTGGGATGAA	0.522000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	64					0	0	0.003610	0	0
OSMR	9180	broad.mit.edu	37	5	38884043	38884043	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:38884043C>T	ENST00000274276.3	+	5	935	c.533C>T	c.(532-534)tCc>tTc	p.S178F	OSMR_ENST00000502536.1_Missense_Mutation_p.S178F	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	178					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)					AATAATGTATCCTGTTATTTG	0.373000													11	16					0	0	0.008291	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136298631	136298631	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:136298631G>A	ENST00000371929.3	+	10	1670	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R81Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R409Q|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R378Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	409	TSP type-1 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCAGGAGGCGGCAGTGCAAC	0.627000													4	28					0	0	0.000602	0	0
CXCR3	2833	broad.mit.edu	37	X	70836447	70836447	+	Missense_Mutation	SNP	C	C	T	rs139226823		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:70836447C>T	ENST00000373691.4	-	2	1179	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	CXCR3_ENST00000373693.3_Missense_Mutation_p.R292Q	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	292					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCTGCTTTCTCGGCCACAGTT	0.617000													26	38					0	0	0.001786	0	0
GPC3	2719	broad.mit.edu	37	X	132670265	132670265	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:132670265G>A	ENST00000370818.3	-	8	2075	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	GPC3_ENST00000543339.1_Missense_Mutation_p.P490S|GPC3_ENST00000394299.2_Missense_Mutation_p.P567S	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	544						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGTCCTTCGGAGTTGCCTGC	0.493000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				20	24					0	0	0.001882	0	0
TRAV24	28659	broad.mit.edu	37	14	22573656	22573656	+	RNA	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:22573656C>T	ENST00000390453.1	+	0	37																											ATTACTAATCCTCTGGTTTCA	0.458000													12	14					0	0	0.003163	0	0
CHD7	55636	broad.mit.edu	37	8	61654288	61654288	+	Silent	SNP	G	G	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:61654288G>C	ENST00000423902.2	+	2	776	c.297G>C	c.(295-297)gcG>gcC	p.A99A	CHD7_ENST00000525508.1_Silent_p.A99A|CHD7_ENST00000524602.1_Silent_p.A99A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	99					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACGGACTCGCGTCTCCGCACT	0.527000													29	12					0	0	0.001786	0	0
FRMD3	257019	broad.mit.edu	37	9	85958140	85958140	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:85958140G>A	ENST00000304195.3	-	5	643	c.437C>T	c.(436-438)tCt>tTt	p.S146F	FRMD3_ENST00000376438.1_Missense_Mutation_p.S146F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	146	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCAGCATCAGAAAAGGAGCA	0.478000													14	22					0	0	0.004007	0	0
NPY4R	5540	broad.mit.edu	37	10	47087692	47087692	+	Silent	SNP	C	C	T	rs138885771	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:47087692C>T	ENST00000374312.1	+	3	1328	c.909C>T	c.(907-909)atC>atT	p.I303I	NPY4R_ENST00000395716.1_Silent_p.I303I	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GGAACCTCATCTTCTTAGTGT	0.552000													15	66					0	0	0.002450	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209946292	209946292	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:209946292G>A	ENST00000367024.1	+	9	1218		c.e9-1		TRAF3IP3_ENST00000400959.3_Splice_Site|TRAF3IP3_ENST00000367023.1_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000477431.1_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATTTGCTCCAGGGACAGCTTA	0.438000													15	10					0	0	0.008871	0	0
RANBP2	5903	broad.mit.edu	37	2	109382668	109382668	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:109382668C>T	ENST00000283195.6	+	20	5799	c.5673C>T	c.(5671-5673)atC>atT	p.I1891I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1891					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTTCCATCCCTGTGTCTG	0.378000													35	53					0	0	0.004878	0	0
HYDIN	54768	broad.mit.edu	37	16	70926412	70926412	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:70926412C>T	ENST00000393567.2	-	56	9419	c.9269G>A	c.(9268-9270)gGg>gAg	p.G3090E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3090										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)				TGTTGAAATCCCTACAGAGTC	0.433000													12	19					0	0	0.002450	0	0
BRCA2	675	broad.mit.edu	37	13	32914692	32914692	+	Missense_Mutation	SNP	C	C	T	rs80359565		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:32914692C>T	ENST00000544455.1	+	11	6427	c.6200C>T	c.(6199-6201)tCc>tTc	p.S2067F	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2067F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2067					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGCAAGTTTCCATTTTAGAA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	22					0	0	0.001368	0	0
SAMD12	401474	broad.mit.edu	37	8	119391893	119391893	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:119391893C>T	ENST00000409003.4	-	4	497	c.369G>A	c.(367-369)ggG>ggA	p.G123G	SAMD12_ENST00000314727.4_Silent_p.G123G|AC023590.1_ENST00000430457.1_Intron	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	123	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCTGGGCAATCCCCATTCGCT	0.478000													11	32					0	0	0.001855	0	0
DTNA	1837	broad.mit.edu	37	18	32345942	32345942	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:32345942C>T	ENST00000283365.9	+	4	436	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	DTNA_ENST00000598142.1_Missense_Mutation_p.R29C|DTNA_ENST00000598774.1_Missense_Mutation_p.R29C|DTNA_ENST00000399121.5_Missense_Mutation_p.R29C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.R29C|DTNA_ENST00000399113.3_Missense_Mutation_p.R29C|DTNA_ENST00000269190.7_Missense_Mutation_p.R29C|DTNA_ENST00000598334.1_Missense_Mutation_p.R29C|DTNA_ENST00000348997.5_Missense_Mutation_p.R29C|DTNA_ENST00000269191.6_Missense_Mutation_p.R29C|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000596745.1_Missense_Mutation_p.R29C|DTNA_ENST00000444659.1_Missense_Mutation_p.R29C|DTNA_ENST00000315456.6_Missense_Mutation_p.R29C|DTNA_ENST00000554864.3_Missense_Mutation_p.R29C|DTNA_ENST00000597599.1_Missense_Mutation_p.R29C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	29	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						AGATCTGGATCGCATCCGACT	0.408000													12	13					0	0	0.004007	0	0
MYPN	84665	broad.mit.edu	37	10	69882042	69882042	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:69882042G>A	ENST00000358913.5	+	2	1335	c.847G>A	c.(847-849)Gga>Aga	p.G283R	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.G283R|MYPN_ENST00000373675.3_Missense_Mutation_p.G283R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	283	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTTCCAGAAGGAACTCGAGT	0.468000													20	22					0	0	0.001523	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999964	46999964	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:46999964G>T	ENST00000374314.4	+	1	2039	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	GPRIN2_ENST00000374317.1_Missense_Mutation_p.V362L			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	362										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCCCTGCATGTGTTCCCAGA	0.672000													24	101					4.26978e-12	4.76009e-12	0.003330	1	0
NBEA	26960	broad.mit.edu	37	13	36229125	36229125	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:36229125C>T	ENST00000400445.3	+	53	8640	c.8106C>T	c.(8104-8106)ttC>ttT	p.F2702F	NBEA_ENST00000379922.3_Silent_p.F280F|NBEA_ENST00000379939.2_Silent_p.F2699F|NBEA_ENST00000540320.1_Silent_p.F2702F|NBEA_ENST00000537702.1_Silent_p.F495F|NBEA_ENST00000310336.4_Silent_p.F2702F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2702						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)		ATAAGAGCTTCAGAGTTTATT	0.343000													9	8					0	0	0.004482	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240746	1240746	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:1240746A>G	ENST00000324642.3	+	7	1069	c.946A>G	c.(946-948)Act>Gct	p.T316A	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	316					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCAAAGCAACTAATGACTA	0.612000													23	34					0	0	0.004656	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555495	155555495	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:155555495G>A	ENST00000295101.2	+	1	685	c.208G>A	c.(208-210)Gac>Aac	p.D70N	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D70N	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	70					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D70Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACCTCTCGGACCTCTTCAC	0.592000													16	26					0	0	0.004007	0	0
CXCR2	3579	broad.mit.edu	37	2	218999642	218999642	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:218999642G>A	ENST00000318507.2	+	3	545	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	40					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CGCCCCATGTGAACCAGAATC	0.468000													48	67					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158656289	158656289	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:158656289C>T	ENST00000368148.3	-	1	199	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E7K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	7					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)					CTTACGGTTTCCTTTGGAAAT	0.333000													5	4					0	0	0.001168	0	0
KCNA6	3742	broad.mit.edu	37	12	4919931	4919931	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:4919931G>A	ENST00000433855.1	+	1	1590	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCNA6_ENST00000280684.3_Missense_Mutation_p.E242K	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACCCCTGGGGAAATGGGGAC	0.557000										HNSCC(72;0.22)			53	75					0	0	0.003610	0	0
SS18	6760	broad.mit.edu	37	18	23619270	23619270	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:23619270T>C	ENST00000415083.2	-	6	813	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	SS18_ENST00000542743.1_Missense_Mutation_p.Y201C|SS18_ENST00000539849.1_Missense_Mutation_p.Y171C|SS18_ENST00000542420.2_Missense_Mutation_p.Y230C|SS18_ENST00000545952.1_Missense_Mutation_p.Y201C|SS18_ENST00000269137.7_Missense_Mutation_p.Y253C	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	253	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					AGGAGGTCTATAGGGAGGAAT	0.408000			T	"""SSX1,  SSX2"""	synovial sarcoma								6	43					0	0	0.001168	0	0
OR2W1	26692	broad.mit.edu	37	6	29012041	29012041	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:29012041C>T	ENST00000377175.1	-	1	976	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAAATCTCATCAGTTTCTTCA	0.363000													3	8					0	0	0.000248	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398304	23398304	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:23398304G>A	ENST00000379361.4	+	2	1808	c.948G>A	c.(946-948)ggG>ggA	p.G316G		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	316	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGCAGCCGGGATCATCAATC	0.522000													30	52					0	0	0.001786	0	0
FAM13A	10144	broad.mit.edu	37	4	89658687	89658687	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:89658687C>T	ENST00000264344.5	-	21	2789	c.2582G>A	c.(2581-2583)cGg>cAg	p.R861Q	FAM13A_ENST00000513837.1_Missense_Mutation_p.R507Q|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000508369.1_Missense_Mutation_p.R535Q|FAM13A_ENST00000503556.1_Missense_Mutation_p.R521Q|FAM13A_ENST00000511976.1_Missense_Mutation_p.R447Q	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	861					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGGGCTTCTCCGCTTGCTGGA	0.537000													13	23					0	0	0.002450	0	0
C3orf20	84077	broad.mit.edu	37	3	14813578	14813578	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:14813578C>T	ENST00000253697.3	+	16	2952	c.2500C>T	c.(2500-2502)Ccc>Tcc	p.P834S	C3orf20_ENST00000435614.1_Missense_Mutation_p.P712S|C3orf20_ENST00000412910.1_Missense_Mutation_p.P712S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	834						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGCAGTGTTCCCAACTCTGT	0.577000													29	40					0	0	0.008361	0	0
AVPR2	554	broad.mit.edu	37	X	153170623	153170623	+	Splice_Site	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:153170623C>T	ENST00000358927.2	+	2	233	c.25_splice	c.e2+1	p.S8_splice	AVPR2_ENST00000370049.1_Splice_Site_p.S8_splice|AVPR2_ENST00000337474.5_Splice_Site_p.S8_splice			P30518	V2R_HUMAN	arginine vasopressin receptor 2	8					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCACCACTTCCGGTAAGGCTT	0.597000													41	71					0	0	0.002222	0	0
FAM13A	10144	broad.mit.edu	37	4	89658686	89658686	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:89658686C>T	ENST00000264344.5	-	21	2790	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	FAM13A_ENST00000513837.1_Silent_p.R507R|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000508369.1_Silent_p.R535R|FAM13A_ENST00000503556.1_Silent_p.R521R|FAM13A_ENST00000511976.1_Silent_p.R447R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	861					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGGGCTTCTCCGCTTGCTGG	0.537000													13	23					0	0	0.002450	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781885	128781885	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:128781885C>T	ENST00000529694.1	+	2	1093	c.717C>T	c.(715-717)atC>atT	p.I239I	KCNJ5_ENST00000533599.1_Silent_p.I239I|KCNJ5_ENST00000338350.4_Silent_p.I239I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	239					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			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)	CCAAGCTCATCAAGTCCCGGC	0.612000													44	62					0	0	0.003610	0	0
STRA6	64220	broad.mit.edu	37	15	74486141	74486141	+	Splice_Site	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:74486141C>T	ENST00000323940.5	-	8	965	c.720_splice	c.e8+1	p.K240_splice	STRA6_ENST00000574278.1_Splice_Site_p.K255_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Splice_Site_p.K279_splice|STRA6_ENST00000535552.1_Splice_Site_p.K277_splice|STRA6_ENST00000449139.2_Splice_Site_p.K240_splice|STRA6_ENST00000423167.2_Splice_Site_p.K231_splice|STRA6_ENST00000416286.3_Splice_Site_p.K232_splice|STRA6_ENST00000395105.4_Splice_Site_p.K240_splice	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	240					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCCCCTTTACCTTGGAGCCTG	0.607000													63	59					0	0	0.003610	0	0
CEP350	9857	broad.mit.edu	37	1	180034295	180034295	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:180034295C>T	ENST00000367607.3	+	27	5873	c.5455C>T	c.(5455-5457)Cct>Tct	p.P1819S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1819						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGCAACCAGTCCTGGTCCAAC	0.428000													6	7					0	0	0.001168	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968666	76968666	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:76968666G>A	ENST00000591778.1	-	5	614	c.497C>T	c.(496-498)tCc>tTc	p.S166F	LGALS3BP_ENST00000262776.3_Silent_p.L250L			Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	0	BTB.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCTGGGGGAGGAGGATGGCAA	0.617000													61	9					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:51025778C>T	ENST00000442544.2	+	27	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				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)		AGCTTGTGTTCGACCAACTCA	0.532000													13	35					0	0	0.001855	0	0
LOC101928663	101928663	broad.mit.edu	37	6	25261617	25261617	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:25261617G>A	ENST00000413898.2	-	0	22																											TGTTCAAAAAGGAATGCCCCA	0.398000													3	9					0	0	0.004672	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323983	79323983	+	Silent	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:79323983A>G	ENST00000428286.1	-	8	3330	c.2130T>C	c.(2128-2130)gaT>gaC	p.D710D	PRUNE2_ENST00000376718.3_Silent_p.D1069D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1069					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCCGACGTCATCCTCCATGG	0.453000													27	23					0	0	0.004656	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238729	71238729	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:71238729A>G	ENST00000398536.4	+	1	417	c.383A>G	c.(382-384)aAg>aGg	p.K128R		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	128	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						agctgctgtaagccctgctgc	0.617000													9	203					0	0	0.004482	0	0
GPR112	139378	broad.mit.edu	37	X	135427542	135427542	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:135427542C>T	ENST00000394143.1	+	6	1968	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	GPR112_ENST00000412101.1_Silent_p.F354F|GPR112_ENST00000394141.1_Silent_p.F354F|GPR112_ENST00000370652.1_Silent_p.F559F|GPR112_ENST00000287534.4_Silent_p.F496F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	559					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)					CCTTTTCTTTCTTAACATCCT	0.403000													5	6					0	0	0.001984	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431239	117431239	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:117431239C>T	ENST00000160373.3	-	4	2102	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	671										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACTAACGGGGTTTATG	0.498000													25	31					0	0	0.004656	0	0
PASK	23178	broad.mit.edu	37	2	242077394	242077394	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:242077394G>A	ENST00000403638.3	-	6	941	c.850C>T	c.(850-852)Cct>Tct	p.P284S	PASK_ENST00000358649.4_Missense_Mutation_p.P284S|PASK_ENST00000405260.1_Missense_Mutation_p.P284S|PASK_ENST00000539818.1_Missense_Mutation_p.P68S|PASK_ENST00000234040.4_Missense_Mutation_p.P284S|PASK_ENST00000544142.1_Missense_Mutation_p.P98S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	284					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCAGAAGGAGGGAGCTGCACA	0.562000													29	25					0	0	0.001786	0	0
LRP1B	53353	broad.mit.edu	37	2	141986907	141986907	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:141986907C>T	ENST00000389484.3	-	6	1666	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AATTTCATTTCCATTGACTGA	0.299000										TSP Lung(27;0.18)			12	6					0	0	0.001368	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571751	44571751	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:44571751C>T	ENST00000289547.4	-	9	2530	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	NPC1L1_ENST00000546276.1_Silent_p.E825E|NPC1L1_ENST00000381160.3_Silent_p.E825E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	825					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAGGAGCCCCTCTCCCTGGC	0.642000													44	51					0	0	0.003610	0	0
ACE	1636	broad.mit.edu	37	17	61560861	61560861	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:61560861G>A	ENST00000290866.4	+	10	1552	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.E510K|ACE_ENST00000538928.1_Silent_p.T461T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	510	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TACCCGAAACGAAACCCACTT	0.478000													107	15					0	0	0.003610	0	0
PGAP2	27315	broad.mit.edu	37	11	3832517	3832517	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:3832517C>T	ENST00000278243.4	+	2	229	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	PGAP2_ENST00000396986.2_Missense_Mutation_p.R67W|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000463452.2_Missense_Mutation_p.R10W|PGAP2_ENST00000300730.6_Missense_Mutation_p.R67W|PGAP2_ENST00000396991.2_Missense_Mutation_p.R10W|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000493547.2_Missense_Mutation_p.R10W	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	10					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						ACCACTGGATCGGGATGGGAC	0.607000													29	27					0	0	0.002096	0	0
TMEM26	219623	broad.mit.edu	37	10	63170314	63170314	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:63170314C>T	ENST00000399298.3	-	6	1241	c.873G>A	c.(871-873)gcG>gcA	p.A291A	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	291						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGAAGTTCTTCGCGGCAAAGA	0.507000													7	5					0	0	0.003080	0	0
YAP1	10413	broad.mit.edu	37	11	102056830	102056830	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:102056830C>T	ENST00000282441.5	+	4	1158	c.770C>T	c.(769-771)tCt>tTt	p.S257F	YAP1_ENST00000526343.1_Intron|YAP1_ENST00000345877.2_Intron|YAP1_ENST00000531439.1_Missense_Mutation_p.S257F|YAP1_ENST00000524575.1_Missense_Mutation_p.S79F|YAP1_ENST00000537274.1_Missense_Mutation_p.S257F	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	257	WW 2.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AAGACCACCTCTTGGCTAGAC	0.373000													18	11					0	0	0.008871	0	0
F11	2160	broad.mit.edu	37	4	187197489	187197489	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:187197489C>T	ENST00000264692.4	+	7	877	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	F11_ENST00000403665.2_Missense_Mutation_p.P234S			P03951	FA11_HUMAN	coagulation factor XI	234	Apple 2.				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)	CACTCATCATCCCGGTTGCTT	0.413000													9	11					0	0	0.004482	0	0
DLG5	9231	broad.mit.edu	37	10	79569428	79569428	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:79569428G>A	ENST00000372391.2	-	24	4529	c.4524C>T	c.(4522-4524)tcC>tcT	p.S1508S	DLG5_ENST00000372388.2_Silent_p.S1168S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1508	PDZ 4.				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.S1508S(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)			GCTCCAGCTGGGACTTTTTGA	0.547000													63	127					0	0	0.003610	0	0
AQP3	360	broad.mit.edu	37	9	33442346	33442346	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:33442346G>A	ENST00000297991.4	-	5	743	c.663C>T	c.(661-663)ggC>ggT	p.G221G	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	221					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AAAGGCGGGGGCCAAAGTCCC	0.662000													14	21					0	0	0.002450	0	0
USP54	159195	broad.mit.edu	37	10	75258464	75258464	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:75258464C>T	ENST00000339859.4	-	23	5078	c.4978G>A	c.(4978-4980)Ggg>Agg	p.G1660R	RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.G1510R|USP54_ENST00000422491.2_Missense_Mutation_p.G795R|USP54_ENST00000408019.1_Missense_Mutation_p.G1660R|USP54_ENST00000394811.2_Missense_Mutation_p.G701R			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1660					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)					AACAGAAACCCCTCTCCCACT	0.517000													23	41					0	0	0.002299	0	0
AHNAK	79026	broad.mit.edu	37	11	62301548	62301548	+	Splice_Site	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:62301548T>C	ENST00000378024.4	-	5	617		c.e5-2		AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein						nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCCCGCTCTGCAGAAAGAC	0.597000													19	11					0	0	0.001882	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718677	1718677	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:1718677G>A	ENST00000382160.1	+	1	253	c.202G>A	c.(202-204)Ggg>Agg	p.G68R		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	68	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGCTCCAAAGGGGGCTGTGG	0.642000													88	101					0	0	0.003610	0	0
TXLNA	200081	broad.mit.edu	37	1	32653642	32653642	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:32653642G>A	ENST00000373609.1	+	4	966	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TXLNA_ENST00000373610.3_Missense_Mutation_p.G229S			P40222	TXLNA_HUMAN	taxilin alpha	229					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCACCTGCGCGGTGAGCACAG	0.622000													6	10					0	0	0.001984	0	0
KRT75	9119	broad.mit.edu	37	12	52818522	52818522	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:52818522G>A	ENST00000252245.5	-	9	1655	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	479	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCACTGGAAAGAGTAGAGGTG	0.612000													39	36					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70926411	70926411	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:70926411C>T	ENST00000393567.2	-	56	9420	c.9270G>A	c.(9268-9270)ggG>ggA	p.G3090G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3090										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)				GTGTTGAAATCCCTACAGAGT	0.433000													13	19					0	0	0.003163	0	0
LRRN2	10446	broad.mit.edu	37	1	204588452	204588452	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:204588452C>T	ENST00000367175.1	-	1	2881	c.669G>A	c.(667-669)atG>atA	p.M223I	LRRN2_ENST00000367176.3_Missense_Mutation_p.M223I|LRRN2_ENST00000367177.3_Missense_Mutation_p.M223I			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	223					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCGCAGGTTCATGCCTGCTA	0.607000													36	50					0	0	0.004289	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756511	94756511	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:94756511G>A	ENST00000554723.1	-	2	958	c.540C>T	c.(538-540)ctC>ctT	p.L180L	SERPINA10_ENST00000554173.1_Silent_p.L140L|SERPINA10_ENST00000261994.4_Silent_p.L140L|SERPINA10_ENST00000393096.1_Silent_p.L140L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	140					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGAAGGCAGGAGCCCGGGCT	0.592000													16	25					0	0	0.003163	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004042	75004042	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:75004042G>T	ENST00000373359.2	-	1	1037	c.845C>A	c.(844-846)cCa>cAa	p.P282Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	282	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATATTCTTCTGGCCAGCTCCA	0.478000													25	25					3.73988e-18	4.18939e-18	0.006320	1	0
OR5H2	79310	broad.mit.edu	37	3	98002205	98002205	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:98002205C>T	ENST00000355273.2	+	1	474	c.474C>T	c.(472-474)ttC>ttT	p.F158F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TAGGTGGCTTCCTCCATGCCT	0.343000													13	16					0	0	0.001855	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183232	11183232	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:11183232G>C	ENST00000390675.2	-	1	774	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CATAACAAGAGGAAAAAGATC	0.403000													7	119					0	0	0.003080	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431495	140431495	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:140431495C>T	ENST00000306549.3	+	1	517	c.440C>T	c.(439-441)cCt>cTt	p.P147L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		147	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGCACCCCTTTGGGTTCA	0.532000													12	20					0	0	0.003163	0	0
SETBP1	26040	broad.mit.edu	37	18	42618621	42618621	+	Splice_Site	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:42618621G>A	ENST00000282030.5	+	5	4467		c.e5+1			NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCGGATGCAGGTGAGCACTTT	0.493000									Schinzel-Giedion syndrome				8	11					0	0	0.004482	0	0
GLIS3	169792	broad.mit.edu	37	9	4118848	4118848	+	Silent	SNP	C	C	T	rs143229220	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:4118848C>T	ENST00000324333.10	-	3	358	c.165G>A	c.(163-165)acG>acA	p.T55T	GLIS3_ENST00000381971.3_Silent_p.T210T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	55	Ser-rich.				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)		GACTCAAGGTCGTGGACGCCA	0.512000													11	14					0	0	0.001368	0	0
FAM71B	153745	broad.mit.edu	37	5	156590570	156590570	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:156590570C>T	ENST00000302938.4	-	2	801	c.706G>A	c.(706-708)Gga>Aga	p.G236R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	236	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTGGATTCCCTCTCCCCCA	0.587000													59	88					0	0	0.003610	0	0
IGF2R	3482	broad.mit.edu	37	6	160445692	160445692	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:160445692C>T	ENST00000356956.1	+	5	750	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	201					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTGGATGACTCCGATCCGGAC	0.478000													34	5					0	0	0.003271	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274140	123274140	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:123274140C>T	ENST00000264501.4	+	81	14304	c.13931C>T	c.(13930-13932)cCa>cTa	p.P4644L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4644L			Q2LD37	K1109_HUMAN	KIAA1109	4644					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						TTTCAGATTCCATTACCAGAA	0.393000													8	14					0	0	0.003080	0	0
TAF1L	138474	broad.mit.edu	37	9	32631964	32631964	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:32631964C>T	ENST00000242310.4	-	1	3703	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1205					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|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			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)		AGCTGGTTTTCGGACTGTCTC	0.423000													17	34					0	0	0.001523	0	0
MCC	4163	broad.mit.edu	37	5	112406892	112406892	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:112406892G>A	ENST00000302475.4	-	10	1817	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	MCC_ENST00000515367.2_Silent_p.T355T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.T608T	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	418					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCAAGGTTATGGTCAGGAGGT	0.453000													38	62					0	0	0.006230	0	0
PRDM13	59336	broad.mit.edu	37	6	100057179	100057179	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:100057179G>T	ENST00000369214.1	+	3	684	c.423G>T	c.(421-423)gaG>gaT	p.E141D	PRDM13_ENST00000369215.4_Missense_Mutation_p.E131D	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTCACGACGAGAAAGGTACCC	0.542000													16	3					2.48551e-13	2.77757e-13	0.004990	1	0
ZNF716	441234	broad.mit.edu	37	7	57522288	57522288	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:57522288C>T	ENST00000420713.1	+	2	274	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACCTGGTCTCCCTGGGTGAGG	0.368000													11	6					0	0	0.008291	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000													6	156					0.00307968	0.00340886	0.003080	1	0
HRNR	388697	broad.mit.edu	37	1	152188374	152188374	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:152188374C>T	ENST00000368801.2	-	3	5806	c.5731G>A	c.(5731-5733)Gaa>Aaa	p.E1911K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1911					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGTTCACCCCTAGAT	0.557000													145	2688					0	0	0.006230	0	0
GCNT3	9245	broad.mit.edu	37	15	59910454	59910454	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:59910454G>A	ENST00000396065.1	+	3	465	c.17G>A	c.(16-18)aGa>aAa	p.R6K	GCNT3_ENST00000560585.1_Missense_Mutation_p.R6K	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	6					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATGGAAGAGACTCTGCCAG	0.522000													21	30					0	0	0.002780	0	0
BPIFC	254240	broad.mit.edu	37	22	32853355	32853355	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:32853355G>A	ENST00000397452.1	-	2	129	c.19C>T	c.(19-21)Cca>Tca	p.P7S	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000397450.1_Missense_Mutation_p.P7S|BPIFC_ENST00000300399.3_Missense_Mutation_p.P7S			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	7						extracellular region	lipopolysaccharide binding|phospholipid binding										CAGAGGACTGGGATTGTCTTT	0.398000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	29					0	0	0.004007	0	0
FLNA	2316	broad.mit.edu	37	X	153595841	153595841	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:153595841G>A	ENST00000422373.1	-	5	1040	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FLNA_ENST00000360319.4_Silent_p.F264F|FLNA_ENST00000344736.4_Silent_p.F264F|FLNA_ENST00000369850.3_Silent_p.F264F	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	264	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCCTTGGGGAACTGGGACA	0.627000													45	66					0	0	0.003610	0	0
NME9	347736	broad.mit.edu	37	3	138022439	138022439	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:138022439C>T	ENST00000383180.2	-	11	892	c.655G>A	c.(655-657)Gga>Aga	p.G219R	NME9_ENST00000333911.3_Missense_Mutation_p.G280R|NME9_ENST00000484930.1_Missense_Mutation_p.G217R|NME9_ENST00000536478.1_Missense_Mutation_p.G219R|NME9_ENST00000341790.5_Missense_Mutation_p.G217R|NME9_ENST00000317876.4_Missense_Mutation_p.G219R	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	280	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCCCGGCTTCCATGGACGGCA	0.448000													67	115					0	0	0.003610	0	0
OR5M3	219482	broad.mit.edu	37	11	56237408	56237408	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:56237408C>T	ENST00000312240.2	-	1	606	c.566G>A	c.(565-567)gGg>gAg	p.G189E		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TACAAAGGTCCCAGCACAGGC	0.398000													7	18					0	0	0.003080	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966904	39966904	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:39966904C>T	ENST00000336649.4	+	1	147	c.147C>T	c.(145-147)gtC>gtT	p.V49V	CACNA1I_ENST00000404898.1_Silent_p.V49V|CACNA1I_ENST00000407673.1_Silent_p.V49V|CACNA1I_ENST00000400164.3_Silent_p.V49V|CACNA1I_ENST00000402142.3_Silent_p.V49V|CACNA1I_ENST00000401624.1_Silent_p.V49V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	49					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			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)	ATCCTCATGTCCCACACCCAG	0.657000													41	54					0	0	0.002222	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095880	8095880	+	RNA	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:8095880C>T	ENST00000523017.1	-	0	608																											GCCACATGGCCCCAGGCCCAA	0.617000													6	26					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9047571	9047571	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:9047571G>A	ENST00000397910.4	-	5	34263	c.34060C>T	c.(34060-34062)Cct>Tct	p.P11354S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11356	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						GTGACTGCAGGATGAGTAACC	0.512000													54	59					0	0	0.003610	0	0
FCN1	2219	broad.mit.edu	37	9	137801662	137801662	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:137801662C>T	ENST00000371806.3	-	9	1054	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	321	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCGCACCTTCATCTCTGACA	0.577000													24	51					0	0	0.004656	0	0
GSX2	170825	broad.mit.edu	37	4	54966573	54966573	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:54966573C>T	ENST00000326902.2	+	1	376	c.62C>T	c.(61-63)tCg>tTg	p.S21L	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Missense_Mutation_p.S21L	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	21						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CCTGCGCCCTCGCTGCCTGAA	0.672000													9	22					0	0	0.000978	0	0
CACNA1A	773	broad.mit.edu	37	19	13427954	13427954	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:13427954G>A	ENST00000360228.5	-	11	1526	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	CACNA1A_ENST00000573710.2_Silent_p.N510N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	510					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)	ACTCGGGCTGGTTGTAGTGAA	0.527000													5	7					0	0	0.001168	0	0
MSN	4478	broad.mit.edu	37	X	64955230	64955230	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:64955230C>T	ENST00000360270.5	+	8	1069	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	299					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCCTGATACCATTGAGGTGC	0.587000			T	ALK	ALCL								3	9					0	0	0.004672	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024764	45024764	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:45024764G>A	ENST00000454753.1	-	0	1052							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane		p.V258V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGAAGGCACGACTTGAGGCA	0.522000													127	191					0	0	0.003610	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:348139C>T	ENST00000419235.2	+	6	378	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000													60	326					0	0	0.003610	0	0
ADD1	118	broad.mit.edu	37	4	2900234	2900234	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:2900234C>T	ENST00000355842.3	+	9	1823	c.960C>T	c.(958-960)aaC>aaT	p.N320N	ADD1_ENST00000398123.2_Silent_p.N320N|ADD1_ENST00000264758.7_Silent_p.N320N|ADD1_ENST00000398129.1_Silent_p.N320N|ADD1_ENST00000398125.1_Silent_p.N320N|ADD1_ENST00000513328.2_Silent_p.N320N|ADD1_ENST00000446856.1_Silent_p.N320N|ADD1_ENST00000503455.2_Silent_p.N320N			P35611	ADDA_HUMAN	adducin 1 (alpha)	320					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACATCCATAACCTTGTGGTTG	0.473000													61	59					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104063322	104063322	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:104063322C>T	ENST00000388887.2	+	21	2380	c.2176C>T	c.(2176-2178)Cca>Tca	p.P726S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	726					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTTCAGATTCCAAAGTGCTG	0.438000													44	52					0	0	0.002522	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999963	46999963	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:46999963T>G	ENST00000374314.4	+	1	2038	c.1083T>G	c.(1081-1083)caT>caG	p.H361Q	GPRIN2_ENST00000374317.1_Missense_Mutation_p.H361Q			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	361										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGCCCTGCATGTGTTCCCAG	0.672000													25	102					0	0	0.003954	0	0
COL11A1	1301	broad.mit.edu	37	1	103428225	103428225	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:103428225C>T	ENST00000358392.2	-	39	3361	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	COL11A1_ENST00000512756.1_Missense_Mutation_p.G887E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G964E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1003E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1003	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCTTTTCCTGCAGCACC	0.473000													13	13					0	0	0.004007	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562584	61562584	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:61562584C>T	ENST00000457692.1	+	4	588	c.255C>T	c.(253-255)atC>atT	p.I85I	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.I85I	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	85					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGCAGCAGATCCAGAAGGGTA	0.433000													53	24					0	0	0.003610	0	0
NIPA1	123606	broad.mit.edu	37	15	23049282	23049282	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:23049282G>A	ENST00000437912.2	-	5	1609	c.312C>T	c.(310-312)atC>atT	p.I104I	NIPA1_ENST00000561183.1_Silent_p.I104I|NIPA1_ENST00000337435.4_Silent_p.I179I|NIPA1_ENST00000538684.1_Silent_p.I9I			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	179					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGCCGGCGCGATCCAGAAGA	0.607000													6	9					0	0	0.001168	0	0
GALNT15	117248	broad.mit.edu	37	3	16237400	16237400	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:16237400G>A	ENST00000339732.5	+	2	1176	c.673G>A	c.(673-675)Gag>Aag	p.E225K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E225K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CTTCCTGAAGGAGATCATCCT	0.607000													15	20					0	0	0.004990	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054286	40054286	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr22:40054286G>A	ENST00000336649.4	+	14	2140	c.2140G>A	c.(2140-2142)Gac>Aac	p.D714N	CACNA1I_ENST00000404898.1_Missense_Mutation_p.D673N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D673N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D673N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D708N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D708N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	708					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			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)	CAACATCTTCGACAGCATCAT	0.542000													20	26					0	0	0.007413	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968665	76968665	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:76968665G>A	ENST00000262776.3	-	6	1059	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	LGALS3BP_ENST00000591778.1_Silent_p.S166S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	251					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCTGGGGGAGGAGGATGGCA	0.622000													65	9					0	0	0.003610	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568213	99568213	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:99568213C>T	ENST00000331335.5	-	5	2777	c.2307G>A	c.(2305-2307)aaG>aaA	p.K769K	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.K529K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Silent_p.K345K|FILIP1L_ENST00000383694.2_Silent_p.K529K|FILIP1L_ENST00000354552.3_Silent_p.K769K	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	769						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCTCTAACTCCTTAGTGAGGT	0.408000													18	20					0	0	0.008871	0	0
FRMPD4	9758	broad.mit.edu	37	X	12704292	12704292	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:12704292C>T	ENST00000380682.1	+	7	1156	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	217	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGACCAAATCATTTCGTTTT	0.413000													12	16					0	0	0.002450	0	0
PLCG2	5336	broad.mit.edu	37	16	81969973	81969973	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:81969973C>T	ENST00000359376.3	+	27	3256	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1014	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACTCAATTTCCAGACGGCAG	0.582000													7	12					0	0	0.001984	0	0
LMCD1	29995	broad.mit.edu	37	3	8579092	8579092	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:8579092A>G	ENST00000157600.3	+	3	585	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	LMCD1_ENST00000454244.1_Missense_Mutation_p.Y45C|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.Y118C|LMCD1_ENST00000397386.3_Intron	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	118	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ACCATCACCTACGAGTGGGCT	0.502000													31	51					0	0	0.002836	0	0
ADAM21	8747	broad.mit.edu	37	14	70924572	70924572	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:70924572C>T	ENST00000603540.1	+	2	614	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ADAM21_ENST00000267499.3_Missense_Mutation_p.P119L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	119					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGCAGCCCCTGAGTCTCTG	0.498000													8	61					0	0	0.008291	0	0
GRID1	2894	broad.mit.edu	37	10	87484330	87484330	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:87484330T>C	ENST00000327946.7	-	11	1722	c.1637A>G	c.(1636-1638)aAg>aGg	p.K546R	GRID1_ENST00000536331.1_Missense_Mutation_p.K117R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	546						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTCGGGCTTCTTAATTAGAAT	0.527000										Multiple Myeloma(13;0.14)			19	15					0	0	0.008871	0	0
ABCA12	26154	broad.mit.edu	37	2	215852497	215852497	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:215852497G>A	ENST00000272895.7	-	27	4069	c.3850C>T	c.(3850-3852)Ccc>Tcc	p.P1284S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P966S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1284					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)		AAATACCAGGGAGCTGCCATA	0.403000													4	6					0	0	0.000248	0	0
SORBS2	8470	broad.mit.edu	37	4	186544548	186544548	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:186544548C>T	ENST00000431808.1	-	14	2586	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.E579K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.E775K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E675K			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	675						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGCTCTTTCGTGTTTTAAC	0.542000													63	92					0	0	0.003610	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123565	108123565	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:108123565A>G	ENST00000374720.3	+	8	1101	c.854A>G	c.(853-855)aAt>aGt	p.N285S	SLC44A1_ENST00000374723.1_Missense_Mutation_p.N285S|SLC44A1_ENST00000374724.1_Missense_Mutation_p.N285S|SLC44A1_ENST00000343170.7_Missense_Mutation_p.N77S	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	285						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCTGAAGACAATCTTCGGGCC	0.463000													23	43					0	0	0.002780	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926361	106926361	+	RNA	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:106926361C>T	ENST00000434710.1	-	0	260																											AGACCCTTCCCCGGAGCTTGA	0.547000													39	55					0	0	0.005524	0	0
PWP1	11137	broad.mit.edu	37	12	108102893	108102893	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:108102893G>A	ENST00000412830.3	+	13	1342	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	PWP1_ENST00000541166.1_Missense_Mutation_p.D330N	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	392					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TTTAGGTCTTGATCTTAGCAG	0.388000													12	14					0	0	0.000978	0	0
SPTA1	6708	broad.mit.edu	37	1	158606485	158606485	+	Silent	SNP	C	C	T	rs141683960	by1000genomes	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:158606485C>T	ENST00000368148.3	-	37	5436	c.5256G>A	c.(5254-5256)ctG>ctA	p.L1752L	SPTA1_ENST00000368147.3_Silent_p.L1752L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1752					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)					TGTGCTTCTTCAGCAAGTTCT	0.463000													16	29					0	0	0.004990	0	0
DEFB125	245938	broad.mit.edu	37	20	77012	77012	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr20:77012C>T	ENST00000382410.2	+	2	425	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	142					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACTGCTACTTCCGAGACTATG	0.438000													27	39					0	0	0.001786	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103432657	103432657	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:103432657C>G	ENST00000361246.2	-	18	2827	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	847					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCAAAGCCTCGAGCTCTTCG	0.453000													28	37					0	0	0.006320	0	0
PRB2	653247	broad.mit.edu	37	12	11546911	11546911	+	Splice_Site	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:11546911C>T	ENST00000389362.4	-	3	136	c.100_splice	c.e3-1	p.G34_splice	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											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)			TTGTGGATTTCCTGGAGAACA	0.483000													29	43					0	0	0.002096	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997134	19997134	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:19997134C>T	ENST00000391403.2	-	1	744	c.641G>A	c.(640-642)aGa>aAa	p.R214K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	214						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)					TTCAAATGTTCTTTTCTGTTT	0.363000													55	40					0	0	0.003610	0	0
EDEM3	80267	broad.mit.edu	37	1	184663419	184663419	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:184663419G>A	ENST00000318130.8	-	20	2843	c.2577C>T	c.(2575-2577)tcC>tcT	p.S859S	EDEM3_ENST00000367512.3_Silent_p.S832S	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	859					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCAGAAGGGGAAATGCTTG	0.373000													8	4					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802668	185802668	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:185802668A>G	ENST00000302277.6	+	4	3139	c.2545A>G	c.(2545-2547)Ata>Gta	p.I849V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	849						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATAGGTTAATAAGTGAAGA	0.348000													7	11					0	0	0.004482	0	0
TMC5	79838	broad.mit.edu	37	16	19481053	19481053	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:19481053G>A	ENST00000396229.2	+	10	2437	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	TMC5_ENST00000219821.5_Missense_Mutation_p.G317E|TMC5_ENST00000381414.4_Missense_Mutation_p.G563E|TMC5_ENST00000564959.1_Missense_Mutation_p.G246E|TMC5_ENST00000561503.1_Missense_Mutation_p.G204E|TMC5_ENST00000542583.2_Missense_Mutation_p.G563E|TMC5_ENST00000541464.1_Missense_Mutation_p.G563E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	563						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						ATTTACTCCGGAGGGATCACC	0.448000													27	36					0	0	0.005443	0	0
ZNF765	91661	broad.mit.edu	37	19	53911308	53911308	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:53911308C>T	ENST00000396408.3	+	4	617	c.500C>T	c.(499-501)tCt>tTt	p.S167F	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTTGTGAAGTCTATCCACGAT	0.378000													24	18					0	0	0.002780	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816459	16816459	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:16816459G>A	ENST00000355661.3	-	18	2526	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P839L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P839L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	839					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CATCTCACCCGGATTTTTTAC	0.512000													41	40					0	0	0.002222	0	0
BIN2	51411	broad.mit.edu	37	12	51675263	51675263	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:51675263G>A	ENST00000604560.1	-	11	1561	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F	BIN2_ENST00000544402.1_3'UTR|BIN2_ENST00000452142.2_3'UTR|BIN2_ENST00000267012.4_3'UTR			Q9UBW5	BIN2_HUMAN	bridging integrator 2	0						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGGGCAGGAGGAGTCTTGGT	0.488000													14	24					0	0	0.004007	0	0
DMRT3	58524	broad.mit.edu	37	9	990589	990589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:990589C>T	ENST00000190165.2	+	2	1041	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	335					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATCAGCCTTTCGAGTCCCAGA	0.577000													26	17					0	0	0.007291	0	0
VAV2	7410	broad.mit.edu	37	9	136672436	136672436	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:136672436G>A	ENST00000371851.1	-	7	989	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	VAV2_ENST00000406606.3_Missense_Mutation_p.P222S|VAV2_ENST00000371850.3_Missense_Mutation_p.P227S			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	227	DH.				angiogenesis|apoptosis|axon guidance|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	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGCCGCAGGGGGCTCATGTAG	0.652000													29	22					0	0	0.003755	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496610	20496610	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:20496610G>A	ENST00000555186.1	+	0	663					NR_038836.1																						TCTACTAGTCGAAAGTGGCCT	0.438000													9	75					0	0	0.006214	0	0
DEF6	50619	broad.mit.edu	37	6	35285757	35285757	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:35285757G>A	ENST00000316637.5	+	6	902	c.897G>A	c.(895-897)caG>caA	p.Q299Q	DEF6_ENST00000542066.1_Silent_p.Q44Q|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	299	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ACACGCGCCAGCGCCAGGAGT	0.597000													7	25					0	0	0.003080	0	0
CELF4	56853	broad.mit.edu	37	18	34853081	34853081	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:34853081C>T	ENST00000420428.2	-	7	1242	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	CELF4_ENST00000334919.5_Missense_Mutation_p.G273S|CELF4_ENST00000601019.1_Missense_Mutation_p.G281S|CELF4_ENST00000361795.5_Missense_Mutation_p.G281S|CELF4_ENST00000412753.1_Missense_Mutation_p.G282S|CELF4_ENST00000603232.1_Missense_Mutation_p.G282S|CELF4_ENST00000591287.1_Missense_Mutation_p.G282S|CELF4_ENST00000591282.1_Missense_Mutation_p.G283S|CELF4_ENST00000588597.1_Missense_Mutation_p.G272S	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	283	Ala-rich.|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						TTCAGGTAGCCGCCCTGCGCG	0.642000													50	32					0	0	0.003610	0	0
DCAF13	25879	broad.mit.edu	37	8	104427557	104427557	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:104427557C>T	ENST00000297579.5	+	1	616	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCCGCCGCTCCGCGAGTCACG	0.637000													34	88					0	0	0.003755	0	0
OR14K1	343170	broad.mit.edu	37	1	247902629	247902629	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:247902629A>G	ENST00000283225.2	+	1	713	c.713A>G	c.(712-714)aAc>aGc	p.N238S	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GCCTTTTCCAACTGTGTGCCT	0.408000													4	4					0	0	0.000248	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281564	145281564	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:145281564C>T	ENST00000369340.3	+	5	938	c.494C>T	c.(493-495)tCc>tTc	p.S165F	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S165F|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S165F|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S165F			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	165	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.S165F(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGCCTGGTTCCTACCAGTGC	0.577000													63	592					0	0	0.003610	0	0
PAFAH2	5051	broad.mit.edu	37	1	26301060	26301060	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:26301060G>A	ENST00000374282.3	-	9	1019	c.840C>T	c.(838-840)atC>atT	p.I280I	PAFAH2_ENST00000374284.1_Silent_p.I280I	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	280					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTATTGATAAAGAACA	0.463000													14	27					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179638750	179638750	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:179638750T>G	ENST00000589042.1	-	31	7369	c.7145A>C	c.(7144-7146)gAa>gCa	p.E2382A	TTN_ENST00000360870.5_Missense_Mutation_p.E2382A|TTN_ENST00000591111.1_Missense_Mutation_p.E2382A|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2336A|TTN_ENST00000342992.6_Missense_Mutation_p.E2382A|TTN_ENST00000342175.6_Missense_Mutation_p.E2336A|TTN_ENST00000359218.5_Missense_Mutation_p.E2336A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2105	Ig-like 13.						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)			TTCCACACTTTCCAAGGAGAC	0.463000													10	12					0	0	0.006214	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949059	96949059	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:96949059G>A	ENST00000323853.5	-	34	4872	c.4795C>T	c.(4795-4797)Ccg>Tcg	p.P1599S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1599	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCAGGTACGGAATCAGATCC	0.567000													29	33					0	0	0.007291	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714022	70714022	+	RNA	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr14:70714022G>A	ENST00000530196.1	-	0	496					NR_003951.1																						CAGAGACTCAGGGGCACCCTC	0.502000													15	28					0	0	0.002299	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049314	36049314	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:36049314C>T	ENST00000282507.3	-	4	621	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E140K|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	174						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCCAAATTCCAAAGAGCCG	0.448000													8	8					0	0	0.003080	0	0
MAP4K4	9448	broad.mit.edu	37	2	102446002	102446002	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:102446002C>G	ENST00000413150.2	+	6	509	c.454C>G	c.(454-456)Cgg>Ggg	p.R152G	MAP4K4_ENST00000350198.4_Missense_Mutation_p.R152G|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R152G|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R132G|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R152G|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R152G|MAP4K4_ENST00000347699.4_Missense_Mutation_p.R152G|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R152G	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	152	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTGATTCACCGGGATATCAA	0.443000													4	3					0	0	0.000602	0	0
IRF3	3661	broad.mit.edu	37	19	50166467	50166467	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:50166467C>T	ENST00000597198.1	-	4	767	c.386G>A	c.(385-387)gGa>gAa	p.G129E	IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.G129E|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.G129E|IRF3_ENST00000309877.7_Missense_Mutation_p.G129E|IRF3_ENST00000599223.1_Missense_Mutation_p.G129E|IRF3_ENST00000601291.1_Missense_Mutation_p.G129E|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377135.4_Missense_Mutation_p.G129E|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000442265.2_Missense_Mutation_p.E72K			Q14653	IRF3_HUMAN	interferon regulatory factor 3	129					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGTACTGCCTCCACCATTGGT	0.572000													67	85					0	0	0.003610	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:121469308G>A	ENST00000257570.5	-	3	864	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_ENST00000339275.5_Silent_p.F198F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000													148	185					0	0	0.003610	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376574	18376574	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:18376574G>A	ENST00000392413.3	-	3	1991	c.1776C>T	c.(1774-1776)gtC>gtT	p.V592V	KIAA1683_ENST00000600359.2_Silent_p.V546V|KIAA1683_ENST00000600328.2_Silent_p.V592V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	592						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCCCTGGGGACCCCAGTTC	0.552000													19	21					0	0	0.008871	0	0
C12orf50	160419	broad.mit.edu	37	12	88379815	88379815	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:88379815C>T	ENST00000298699.2	-	11	1118	c.938G>A	c.(937-939)aGa>aAa	p.R313K	C12orf50_ENST00000550553.1_Missense_Mutation_p.R274K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	313										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTTGGGGTCTTGGGGCCTG	0.423000													11	11					0	0	0.000978	0	0
ABCC11	85320	broad.mit.edu	37	16	48231955	48231955	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:48231955C>T	ENST00000394747.1	-	16	2590	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	ABCC11_ENST00000353782.5_Silent_p.K747K|ABCC11_ENST00000394748.1_Silent_p.K747K|ABCC11_ENST00000356608.2_Silent_p.K747K|ABCC11_ENST00000537808.1_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	747						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCTCTGCTATCTTTGCTGTGT	0.557000													25	42					0	0	0.004656	0	0
COL4A2	1284	broad.mit.edu	37	13	111156271	111156271	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr13:111156271C>T	ENST00000360467.5	+	44	4522	c.4216C>T	c.(4216-4218)Ccc>Tcc	p.P1406S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1406	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)			GACAGTGGGTCCCCAGGGGAG	0.711000													34	44					0	0	0.002445	0	0
NLRP10	338322	broad.mit.edu	37	11	7984773	7984773	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:7984773G>A	ENST00000328600.2	-	1	431	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	90	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)		AAATATGGCTGAGCTGGTCCA	0.527000													15	24					0	0	0.004007	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960249	73960249	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:73960249G>A	ENST00000373468.1	-	3	4794	c.4143C>T	c.(4141-4143)atC>atT	p.I1381I	KIAA2022_ENST00000055682.5_Silent_p.I1381I			Q5QGS0	K2022_HUMAN	KIAA2022	1381					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						ACCCACTGTTGATCTTTTTCT	0.443000													21	23					0	0	0.001882	0	0
FER1L6	654463	broad.mit.edu	37	8	125107223	125107223	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:125107223C>T	ENST00000522917.1	+	35	4845	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1547S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1547						integral to membrane		p.P1547S(1)		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)			TAGGCTGGTTCCTGAACACAT	0.483000													32	17					0	0	0.004289	0	0
LILRP2	79166	broad.mit.edu	37	19	55221674	55221674	+	RNA	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:55221674C>T	ENST00000413439.1	+	0	1415																											ACCCACGCTCCGCACAGGCCC	0.667000													5	13					0	0	0.000602	0	0
POTEC	388468	broad.mit.edu	37	18	14542973	14542973	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr18:14542973C>T	ENST00000358970.5	-	1	172	c.173G>A	c.(172-174)aGg>aAg	p.R58K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	58										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CATCTTGCTCCTGAGCATCTT	0.582000													43	319					0	0	0.003610	0	0
SRSF11	9295	broad.mit.edu	37	1	70715641	70715641	+	Silent	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr1:70715641A>G	ENST00000370950.3	+	11	1111	c.1029A>G	c.(1027-1029)agA>agG	p.R343R	SRSF11_ENST00000370951.1_Silent_p.R343R|SRSF11_ENST00000370949.1_Silent_p.R283R|SRSF11_ENST00000405432.1_Silent_p.R343R|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	343	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CTAGAGAGAGACGACGACGAA	0.408000													3	20					0	0	0.004672	0	0
PZP	5858	broad.mit.edu	37	12	9346693	9346693	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr12:9346693C>T	ENST00000261336.2	-	11	1262	c.1234G>A	c.(1234-1236)Gtt>Att	p.V412I	PZP_ENST00000381997.2_Missense_Mutation_p.V281I	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGTTTATTAACCGAGATACTG	0.378000													11	29					0	0	0.002450	0	0
RNF123	63891	broad.mit.edu	37	3	49753064	49753064	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr3:49753064C>T	ENST00000327697.6	+	32	3211	c.3067C>T	c.(3067-3069)Cct>Tct	p.P1023S	RNF123_ENST00000433785.1_Missense_Mutation_p.P135S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1023						cytoplasm	ligase activity|protein binding|zinc ion binding			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)		ACAGCAGGGTCCTGATGTGGC	0.612000													20	34					0	0	0.008871	0	0
GGT6	124975	broad.mit.edu	37	17	4461605	4461605	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr17:4461605C>T	ENST00000301395.3	-	3	1150	c.1091G>A	c.(1090-1092)aGt>aAt	p.S364N	GGT6_ENST00000381550.3_Missense_Mutation_p.S402N|GGT6_ENST00000574154.1_Missense_Mutation_p.S396N|GGT6_ENST00000573591.1_Missense_Mutation_p.S248N	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	396					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGCCCAGGCACTAGTGGTAGA	0.622000													26	41					0	0	0.006320	0	0
MTM1	4534	broad.mit.edu	37	X	149831957	149831957	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:149831957G>A	ENST00000370396.2	+	14	1573	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E392K|MTM1_ENST00000413012.2_Missense_Mutation_p.E470K|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	507	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTAATAAAGAAAAATTCAA	0.363000													8	17					0	0	0.004482	0	0
VPS13B	157680	broad.mit.edu	37	8	100479817	100479817	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr8:100479817C>T	ENST00000395996.1	+	24	3732	c.3621C>T	c.(3619-3621)ctC>ctT	p.L1207L	VPS13B_ENST00000358544.2_Silent_p.L1207L|VPS13B_ENST00000357162.2_Silent_p.L1207L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1207					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGTCTGTCTCCATGTTGACC	0.408000													18	25					0	0	0.008871	0	0
AKAP13	11214	broad.mit.edu	37	15	86265545	86265545	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr15:86265545G>A	ENST00000394518.2	+	25	6558	c.6463G>A	c.(6463-6465)Gtt>Att	p.V2155I	AKAP13_ENST00000361243.2_Missense_Mutation_p.V2159I|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.V400I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2155	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAGTACCCAGTTTTATTCCA	0.433000													29	43					0	0	0.008361	0	0
MUC17	140453	broad.mit.edu	37	7	100684532	100684532	+	Missense_Mutation	SNP	G	G	A	rs143002700	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:100684532G>A	ENST00000306151.4	+	3	9899	c.9835G>A	c.(9835-9837)Gga>Aga	p.G3279R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3279	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)					TCCTAGTGAAGGAAGCACTCC	0.512000													88	185					0	0	0.003610	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000													10	14					0	0	0.008291	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018757	34018757	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:34018757G>A	ENST00000382499.2	-	24	3309	c.3310C>T	c.(3310-3312)Ccc>Tcc	p.P1104S	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1104S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1060S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1065S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1065S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1065	Pro-rich.			Missing (in Ref. 1; BAA74933).			inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTCTGATGGGAAGGGAAGGT	0.527000													59	77					0	0	0.003610	0	0
OR1S1	219959	broad.mit.edu	37	11	57982301	57982301	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:57982301G>A	ENST00000309433.6	+	1	85	c.85G>A	c.(85-87)Gga>Aga	p.G29R		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CATTCTCCTGGGATTTTTCAA	0.418000													14	28					0	0	0.002450	0	0
CEL	1056	broad.mit.edu	37	9	135940078	135940078	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:135940078C>T	ENST00000372080.4	+	3	294	c.278C>T	c.(277-279)aCc>aTc	p.T93I	CEL_ENST00000351304.7_Missense_Mutation_p.T90I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	90	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCACCATCACCCAGGACAGC	0.617000													46	154					0	0	0.003610	0	0
GOT1	2805	broad.mit.edu	37	10	101165984	101165984	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr10:101165984G>A	ENST00000370508.5	-	4	474	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GOT1_ENST00000543866.1_Silent_p.S128S	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	149					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACCAGCAGCGGAAAACACAG	0.463000													29	31					0	0	0.002836	0	0
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373000													7	13					0	0	0.004482	0	0
TTC7A	57217	broad.mit.edu	37	2	47249054	47249054	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:47249054C>T	ENST00000319190.5	+	12	1814	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.A448A|TTC7A_ENST00000394850.2_Silent_p.A482A|TTC7A_ENST00000263737.6_Silent_p.A128A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	482							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAGAGGAAGCCGGGGAGTTCC	0.607000													39	44					0	0	0.007835	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951827	46951827	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr21:46951827G>A	ENST00000311124.4	-	3	577	c.425C>T	c.(424-426)tCt>tTt	p.S142F	SLC19A1_ENST00000567670.1_Missense_Mutation_p.S142F|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S102F|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S142F	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	142					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCACGAGAGAGAAGATGTA	0.672000													3	6					0	0	0.004672	0	0
SPN	6693	broad.mit.edu	37	16	29675424	29675424	+	Silent	SNP	A	A	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:29675424A>G	ENST00000360121.3	+	2	467	c.375A>G	c.(373-375)ctA>ctG	p.L125L	SPN_ENST00000395389.2_Silent_p.L125L|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	125					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAAACTCTCTAGGATCCCACA	0.527000													47	50					0	0	0.003610	0	0
CCDC138	165055	broad.mit.edu	37	2	109489947	109489947	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:109489947A>T	ENST00000295124.4	+	14	1794	c.1734A>T	c.(1732-1734)ttA>ttT	p.L578F	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	578										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GCAACTCTTTATTTTTTCGTA	0.368000													13	9					0	0	0.001368	0	0
BCL11A	53335	broad.mit.edu	37	2	60689199	60689199	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:60689199C>T	ENST00000335712.6	-	4	1075	c.848G>A	c.(847-849)gGg>gAg	p.G283E	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.G249E|BCL11A_ENST00000358510.4_Missense_Mutation_p.G249E|BCL11A_ENST00000356842.4_Missense_Mutation_p.G283E|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	283	Pro-rich.				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)			CTCTTCCGCCCCCAGGCGCTC	0.627000			T	IGH@	B-CLL								242	334					0	0	0.003610	0	0
SOX3	6658	broad.mit.edu	37	X	139586840	139586840	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:139586840C>G	ENST00000370536.2	-	1	385	c.386G>C	c.(385-387)gGa>gCa	p.G129A		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	129	Poly-Gly.				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			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCCGCCACCTCCGCTCGCACC	0.721000													4	29					0	0	0.000248	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455739	5455739	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:5455739C>T	ENST00000222033.4	+	1	314	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	79						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGGGCCGAGCCCTCGTGGCAG	0.667000													51	61					0	0	0.003610	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606060	71606060	+	Missense_Mutation	SNP	G	G	A	rs138893749		TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr9:71606060G>A	ENST00000265382.3	+	15	1812	c.1507G>A	c.(1507-1509)Ggg>Agg	p.503_503insR	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTCCAGCAAAGGGTTACCTTC	0.478000													23	20					0	0	0.002780	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085151	80085151	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:80085151G>A	ENST00000466387.1	+	8	1035	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R104Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R138Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R104Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R104Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R104Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	104					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						GAGACGATGCGGATCGCCTCC	0.562000													33	49					0	0	0.002836	0	0
ITGAX	3687	broad.mit.edu	37	16	31382410	31382410	+	Silent	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:31382410C>T	ENST00000268296.4	+	15	1837	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	ITGAX_ENST00000562522.1_Silent_p.I572I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	572					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCAGCGGATCGCGGGCTCCC	0.567000													55	79					0	0	0.003610	0	0
FARP2	9855	broad.mit.edu	37	2	242396210	242396210	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr2:242396210C>T	ENST00000264042.3	+	14	1630	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	FARP2_ENST00000373287.4_Missense_Mutation_p.P487L|FARP2_ENST00000545004.1_Missense_Mutation_p.P487L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	487	Pro-rich.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CGGAAGAGCCCCCTGAGTCTG	0.617000													46	64					0	0	0.003610	0	0
THOC2	57187	broad.mit.edu	37	X	122747910	122747910	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:122747910C>T	ENST00000245838.8	-	34	4473	c.4442G>A	c.(4441-4443)cGg>cAg	p.R1481Q	THOC2_ENST00000355725.4_Missense_Mutation_p.R1481Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R1366Q|THOC2_ENST00000464992.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1481	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AACCCTTTTCCGCTCTTTCCT	0.348000													4	15					0	0	0.000602	0	0
AFM	173	broad.mit.edu	37	4	74353509	74353509	+	Silent	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr4:74353509G>A	ENST00000226355.3	+	6	777	c.684G>A	c.(682-684)ttG>ttA	p.L228L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	228	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGCACTTTTGAAATTTGGAA	0.328000													7	9					0	0	0.001984	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781893	128781893	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr11:128781893G>A	ENST00000529694.1	+	2	1101	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R242Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R242Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	242					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			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)	ATCAAGTCCCGGCAGACCAAA	0.612000													42	66					0	0	0.002852	0	0
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr6:32063513_32063514delAC	ENST00000375244.3	-	3	2317_2318	c.2116_2117delGT	c.(2116-2118)afs	p.V706fs	TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs			P22105	TENX_HUMAN	tenascin XB	706	EGF-like 18.				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						GAAGCCCTCTACACACACACAC	0.668													7	523	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2397)ttt>tCTCtt	p.799_799F>SL	POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													9	66	---	---	---	---					
PPL	5493	broad.mit.edu	37	16	4943544	4943544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr16:4943544delC	ENST00000345988.2	-	13	1579	c.1490delG	c.(1489-1491)gafs	p.G497fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.G495fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	497					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCACCCACCTCCGGGATTCTC	0.687													6	13	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chr19:45381749_45381751delGAG	ENST00000252485.4	+	6	1663_1665	c.1312_1314delGAG	c.(1312-1314)del	p.E445del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	504					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591													13	462	---	---	---	---					
ZFX	7543	broad.mit.edu	37	X	24225559	24225560	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:24225559_24225560insT	ENST00000379177.1	+	7	1190_1191	c.763_764insT	c.(763-765)tttfs	p.F255fs	ZFX_ENST00000338565.3_Intron|ZFX_ENST00000379188.3_Frame_Shift_Ins_p.F255fs|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.F255fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.F294fs|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.F26fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAAGGTGTACATTTTTAAAGCT	0.406													31	44	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119077457	119077459	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:119077457_119077459delGCG	ENST00000371410.3	-	1	276_278	c.110_112delCGC	c.(109-114)cgg>c	p.PR37del		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	37	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	p.R38W(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGGCGGCCCCGCGGGGAGCGGGC	0.685													17	28	---	---	---	---					
CNGA2	1260	broad.mit.edu	37	X	150911948	150911948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A1PV-01A-11D-A19A-08	TCGA-BF-A1PV-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db1b3b6-b61c-4718-9cbf-65550d399bc7	792d1c6e-02b2-442b-a36e-d5a4afa5a6aa	g.chrX:150911948delA	ENST00000329903.4	+	6	1006	c.973delA	c.(973-975)tcfs	p.I325fs		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	325					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGGAATACATCTATTGCCT	0.478													10	150	---	---	---	---					
